##SnpEffVersion="4.1a (build 2015-01-14), by Pablo Cingolani"
##SnpEffCmd="SnpEff  GRCh37.75 examples/test.chr22.vcf "
##INFO=<ID=ANN,Number=.,Type=String,Description="Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO' ">
##INFO=<ID=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' ">
##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' ">
##SnpSiftVersion="SnpSift 4.1a (build 2015-01-14), by Pablo Cingolani"
##SnpSiftCmd="SnpSift filter 'ANN[0].EFFECT = 'missense_variant'' examples/test.chr22.ann.vcf"
##FILTER=<ID=SnpSift,Description="SnpSift 4.1a (build 2015-01-14), by Pablo Cingolani, Expression used: ANN[0].EFFECT = 'missense_variant'">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
22	17072035	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.1406G>A|p.Gly469Glu|1666/2034|1406/1674|469/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||3944|
22	17072258	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.1183G>T|p.Gly395Cys|1443/2034|1183/1674|395/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>T|||||3721|
22	17072674	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.767C>T|p.Pro256Leu|1027/2034|767/1674|256/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>T|||||3305|
22	17072747	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.694A>G|p.Met232Val|954/2034|694/1674|232/557||,C|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397A>G|||||3232|
22	17073043	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.398G>A|p.Arg133Gln|658/2034|398/1674|133/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2936|
22	17073119	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.322G>A|p.Val108Met|582/2034|322/1674|108/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2860|
22	17073131	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.310G>A|p.Gly104Ser|570/2034|310/1674|104/557||,T|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>A|||||2848|
22	17073134	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.307G>T|p.Asp103Tyr|567/2034|307/1674|103/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397G>T|||||2845|
22	17073145	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.296A>C|p.Glu99Ala|556/2034|296/1674|99/557||,G|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397A>C|||||2834|
22	17073148	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.293C>T|p.Ala98Val|553/2034|293/1674|98/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>T|||||2831|
22	17073275	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.166C>T|p.Arg56Trp|426/2034|166/1674|56/557||,A|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript|ENST00000430910|processed_pseudogene||n.*397C>T|||||2704|
22	17280774	.	T	C	.	.	ANN=C|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.476A>G|p.Gln159Arg|579/1690|476/1380|159/459||
22	17280778	.	T	C	.	.	ANN=C|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.472A>G|p.Met158Val|575/1690|472/1380|158/459||
22	17280822	.	G	A	.	.	ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.428C>T|p.Thr143Met|531/1690|428/1380|143/459||
22	17280882	.	C	A	.	.	ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.368G>T|p.Trp123Leu|471/1690|368/1380|123/459||
22	17280889	.	G	A	.	.	ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|3/4|c.361C>T|p.His121Tyr|464/1690|361/1380|121/459||
22	17288641	.	C	A	.	.	ANN=A|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|2/4|c.323G>T|p.Gly108Val|426/1690|323/1380|108/459||,A|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|2/4|c.323G>T||||||,A|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|3/4|c.323G>T||||||
22	17288849	.	A	G	.	.	ANN=G|missense_variant|MODERATE|XKR3|ENSG00000172967|transcript|ENST00000331428|protein_coding|2/4|c.115T>C|p.Phe39Leu|218/1690|115/1380|39/459||,G|sequence_feature|LOW|XKR3|ENSG00000172967|transmembrane_region:Transmembrane_region|ENST00000331428|protein_coding|2/4|c.115T>C||||||
22	17444640	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|9/10|c.1556C>T|p.Ala519Val|1664/2630|1556/1725|519/574||,A|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/9|n.*1681C>T|||||4579|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>T|||||2350|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||3551|,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|8/9|n.*1681C>T||||||
22	17445711	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|8/10|c.1421C>T|p.Thr474Met|1529/2630|1421/1725|474/574||,A|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1546C>T|||||3508|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>T|||||1279|,A|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>T|||||2480|,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|7/9|n.*1546C>T||||||
22	17446153	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|7/10|c.1294C>G|p.Pro432Ala|1402/2630|1294/1725|432/574||,C|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|6/9|n.*1419C>G|||||3066|,C|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.*170C>G|||||837|,C|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594C>G|||||2038|,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|6/9|n.*1419C>G||||||
22	17446995	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1283A>G|p.Gln428Arg|1391/2630|1283/1725|428/574||,C|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1408A>G|||||2224|,C|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594A>G|||||1196|,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1408A>G||||||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|2/2|n.165A>G||||||
22	17447036	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1242G>C|p.Glu414Asp|1350/2630|1242/1725|414/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1367G>C|||||2183|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||1155|,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1367G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|2/2|n.124G>C||||||
22	17447138	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1140G>C|p.Gln380His|1248/2630|1140/1725|380/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1265G>C|||||2081|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||1053|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-65G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1265G>C||||||
22	17447184	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1094G>C|p.Gly365Ala|1202/2630|1094/1725|365/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1219G>C|||||2035|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594G>C|||||1007|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-111G>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1219G>C||||||
22	17447241	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|6/10|c.1037T>C|p.Leu346Pro|1145/2630|1037/1725|346/574||,G|3_prime_UTR_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1162T>C|||||1978|,G|downstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.*594T>C|||||950|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/1|n.87-168T>C||||||,G|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|5/9|n.*1162T>C||||||
22	17449238	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|5/10|c.973A>G|p.Asn325Asp|1081/2630|973/1725|325/574||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|4/9|n.554A>G||||||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript|1/2|n.36A>G||||||,C|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|3/4|n.399A>G||||||
22	17450920	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.850A>G|p.Arg284Gly|958/2630|850/1725|284/574||,C|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1A>G|||||1647|,C|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1647A>G||||||,C|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1647A>G||||||
22	17450929	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.841G>A|p.Ala281Thr|949/2630|841/1725|281/574||,T|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1G>A|||||1656|,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1656G>A||||||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1656G>A||||||
22	17450952	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|4/10|c.818T>C|p.Leu273Pro|926/2630|818/1725|273/574||,G|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000520505|processed_transcript||n.-1T>C|||||1679|,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/8|n.519-1679T>C||||||,G|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.364-1679T>C||||||
22	17468875	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.661G>A|p.Ala221Thr|769/2630|661/1725|221/574||,T|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3888G>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.493G>A||||||
22	17468886	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.650C>T|p.Ser217Leu|758/2630|650/1725|217/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3877C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.482C>T||||||
22	17468901	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.635C>T|p.Pro212Leu|743/2630|635/1725|212/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3862C>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.467C>T||||||
22	17468918	.	C	A	.	.	ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|3/10|c.618G>T|p.Trp206Cys|726/2630|618/1725|206/574||,A|intron_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/3|n.363+3845G>T||||||,A|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|3/9|n.450G>T||||||
22	17472967	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|2/10|c.274C>A|p.Arg92Ser|382/2630|274/1725|92/574||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|2/10|c.274C>A||||||,T|sequence_feature|LOW|GAB4|ENSG00000215568|domain:PH|ENST00000400588|protein_coding|1/10|c.274C>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay|2/9|n.157C>A||||||,T|non_coding_exon_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript|2/4|n.159C>A||||||
22	17488938	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/10|c.67T>C|p.Ser23Pro|175/2630|67/1725|23/574||,G|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1A>G|||||4356|,G|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay||n.-3T>C|||||49|,G|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.-1T>C|||||49|
22	17488995	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAB4|ENSG00000215568|transcript|ENST00000400588|protein_coding|1/10|c.10C>T|p.Pro4Ser|118/2630|10/1725|4/574||,A|upstream_gene_variant|MODIFIER|AC006548.26|ENSG00000270226|transcript|ENST00000605217|processed_pseudogene||n.-1G>A|||||4299|,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000465611|nonsense_mediated_decay||n.-3C>T|||||106|,A|upstream_gene_variant|MODIFIER|GAB4|ENSG00000215568|transcript|ENST00000523144|processed_transcript||n.-1C>T|||||106|
22	17577965	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|2/13|c.152C>T|p.Thr51Met|285/8607|152/2601|51/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|2/13|c.152C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|3/13|c.152C>T||||||,T|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1G>A|||||3136|,T|intron_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|1/3|n.277-722C>T||||||,T|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron|2/2|n.187C>T||||||
22	17578788	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|3/13|c.265G>A|p.Asp89Asn|398/8607|265/2601|89/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|4/13|c.265G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|disulfide_bond|ENST00000319363|protein_coding|3/13|c.265G>A||||||,A|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1C>T|||||3959|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||389|,A|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|2/4|n.378G>A||||||
22	17579761	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|4/13|c.407G>A|p.Arg136Lys|540/8607|407/2601|136/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.407G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.407G>A||||||,A|upstream_gene_variant|MODIFIER|AC006946.12|ENSG00000235328|transcript|ENST00000429106|processed_pseudogene||n.-1C>T|||||4932|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>A|||||1362|,A|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|3/4|n.520G>A||||||
22	17581248	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|5/13|c.427C>T|p.Arg143Cys|560/8607|427/2601|143/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.427C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|5/13|c.427C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621C>T|||||2849|,T|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|4/4|n.540C>T||||||
22	17581286	.	G	C	.	.	ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|5/13|c.465G>C|p.Gln155His|598/8607|465/2601|155/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.465G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|5/13|c.465G>C||||||,C|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>C|||||2887|,C|non_coding_exon_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript|4/4|n.578G>C||||||
22	17583085	.	G	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|7/13|c.655G>T|p.Val219Leu|788/8607|655/2601|219/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.655G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|7/13|c.655G>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>T|||||1726|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000459971|retained_intron||n.*621G>T|||||4686|
22	17584454	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|8/13|c.833G>A|p.Arg278His|966/8607|833/2601|278/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|8/13|c.833G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.833G>A||||||,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651G>A|||||3095|
22	17585658	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/13|c.889C>T|p.His297Tyr|1022/8607|889/2601|297/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.889C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.889C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||4299|
22	17585668	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|9/13|c.899C>T|p.Thr300Ile|1032/8607|899/2601|300/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.899C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|9/13|c.899C>T||||||,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000477874|processed_transcript||n.*651C>T|||||4309|
22	17586751	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/13|c.952C>T|p.Pro318Ser|1085/8607|952/2601|318/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.952C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.952C>T||||||
22	17586757	.	T	C	.	.	ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|11/13|c.958T>C|p.Trp320Arg|1091/8607|958/2601|320/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|11/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|2/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|8/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|9/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|5/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|6/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|1/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|10/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|7/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|4/13|c.958T>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Extracellular|ENST00000319363|protein_coding|3/13|c.958T>C||||||
22	17589209	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1100C>T|p.Ala367Val|1233/8607|1100/2601|367/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1100C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1100C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1100C>T||||||
22	17589283	.	G	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1174G>T|p.Val392Leu|1307/8607|1174/2601|392/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1174G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1174G>T||||||
22	17589341	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1232C>T|p.Ala411Val|1365/8607|1232/2601|411/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1232C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|beta_strand|ENST00000319363|protein_coding|13/13|c.1232C>T||||||
22	17589362	.	A	C	.	.	ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1253A>C|p.Gln418Pro|1386/8607|1253/2601|418/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1253A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1253A>C||||||
22	17589412	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1303G>A|p.Glu435Lys|1436/8607|1303/2601|435/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1303G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|helix|ENST00000319363|protein_coding|13/13|c.1303G>A||||||
22	17589490	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1381C>T|p.Arg461Trp|1514/8607|1381/2601|461/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1381C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1381C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1381C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1381C>T||||||
22	17589521	.	A	G	.	.	ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1412A>G|p.His471Arg|1545/8607|1412/2601|471/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1412A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1412A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1412A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|domain:SEFIR|ENST00000319363|protein_coding|13/13|c.1412A>G||||||
22	17589794	.	C	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1685C>A|p.Pro562Gln|1818/8607|1685/2601|562/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1685C>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1685C>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1685C>A||||||
22	17589856	.	G	C	.	.	ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1747G>C|p.Asp583His|1880/8607|1747/2601|583/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1747G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1747G>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1747G>C||||||
22	17589928	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1819G>A|p.Glu607Lys|1952/8607|1819/2601|607/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1819G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1819G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1819G>A||||||
22	17590006	.	C	G	.	.	ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.1897C>G|p.Leu633Val|2030/8607|1897/2601|633/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.1897C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.1897C>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.1897C>G||||||
22	17590180	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2071G>A|p.Ala691Thr|2204/8607|2071/2601|691/866||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2071G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2071G>A||||||,A|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2071G>A||||||
22	17590261	.	T	G	.	.	ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2152T>G|p.Phe718Val|2285/8607|2152/2601|718/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2152T>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2152T>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2152T>G||||||
22	17590313	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2204C>T|p.Ala735Val|2337/8607|2204/2601|735/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2204C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2204C>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2204C>T||||||
22	17590399	.	G	T	.	.	ANN=T|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2290G>T|p.Ala764Ser|2423/8607|2290/2601|764/866||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2290G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2290G>T||||||,T|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2290G>T||||||
22	17590439	.	A	G	.	.	ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2330A>G|p.Asp777Gly|2463/8607|2330/2601|777/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2330A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2330A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2330A>G||||||
22	17590490	.	A	C	.	.	ANN=C|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2381A>C|p.Gln794Pro|2514/8607|2381/2601|794/866||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2381A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2381A>C||||||,C|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2381A>C||||||
22	17590498	.	A	G	.	.	ANN=G|missense_variant|MODERATE|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding|13/13|c.2389A>G|p.Ile797Val|2522/8607|2389/2601|797/866||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|11/13|c.2389A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|13/13|c.2389A>G||||||,G|sequence_feature|LOW|IL17RA|ENSG00000177663|topological_domain:Cytoplasmic|ENST00000319363|protein_coding|12/13|c.2389A>G||||||
22	17600313	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1705G>A|p.Val569Ile|1831/4954|1705/1737|569/578||,T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.640G>A|p.Val214Ile|837/3961|640/672|214/223||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335C>T|||||2172|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344C>T|||||2163|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734C>T|||||3730|
22	17600393	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1625C>T|p.Pro542Leu|1751/4954|1625/1737|542/578||,A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.560C>T|p.Pro187Leu|757/3961|560/672|187/223||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Pro|ENST00000331437|protein_coding|1/1|c.1625C>T||||||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Pro|ENST00000399875|protein_coding|2/2|c.560C>T||||||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||2092|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||2083|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||3810|
22	17600448	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1570C>T|p.Arg524Trp|1696/4954|1570/1737|524/578||,A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.505C>T|p.Arg169Trp|702/3961|505/672|169/223||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||2037|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||2028|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||3865|
22	17600672	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1346C>T|p.Ala449Val|1472/4954|1346/1737|449/578||,A|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.281C>T|p.Ala94Val|478/3961|281/672|94/223||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Ala|ENST00000331437|protein_coding|1/1|c.1346C>T||||||,A|sequence_feature|LOW|CECR6|ENSG00000183307|compositionally_biased_region:Poly-Ala|ENST00000399875|protein_coding|2/2|c.281C>T||||||,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>A|||||1813|,A|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>A|||||1804|,A|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>A|||||4089|
22	17600895	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.1123G>A|p.Ala375Thr|1249/4954|1123/1737|375/578||,T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|2/2|c.58G>A|p.Ala20Thr|255/3961|58/672|20/223||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335C>T|||||1590|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344C>T|||||1581|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734C>T|||||4312|
22	17601438	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CECR6|ENSG00000183307|transcript|ENST00000331437|protein_coding|1/1|c.580C>A|p.Pro194Thr|706/4954|580/1737|194/578||,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000441544|protein_coding||c.-335G>T|||||1047|,T|upstream_gene_variant|MODIFIER|AC006946.15|ENSG00000235478|transcript|ENST00000428078|nonsense_mediated_decay||n.-344G>T|||||1038|,T|downstream_gene_variant|MODIFIER|IL17RA|ENSG00000177663|transcript|ENST00000319363|protein_coding||c.*2734G>T|||||4855|,T|intron_variant|MODIFIER|CECR6|ENSG00000183307|transcript|ENST00000399875|protein_coding|1/1|c.-81-405C>A||||||
22	17618937	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|8/8|c.1246C>T|p.Arg416Cys|1272/1799|1246/1272|416/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|8/8|c.1156C>T|p.Arg386Cys|1199/1735|1156/1182|386/393||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|4/4|c.646C>T|p.Arg216Cys|650/1118|646/672|216/223||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|3/3|n.3089C>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|4/4|n.1126C>T||||||
22	17619076	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|8/8|c.1107G>C|p.Arg369Ser|1133/1799|1107/1272|369/423||,G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|8/8|c.1017G>C|p.Arg339Ser|1060/1735|1017/1182|339/393||,G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|4/4|c.507G>C|p.Arg169Ser|511/1118|507/672|169/223||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|3/3|n.2950G>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|4/4|n.987G>C||||||
22	17622001	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|6/8|c.694G>A|p.Val232Ile|720/1799|694/1272|232/423||,T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|6/8|c.604G>A|p.Val202Ile|647/1735|604/1182|202/393||,T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/4|c.283G>A|p.Val95Ile|287/1118|283/672|95/223||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2537G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|2/4|n.574G>A||||||
22	17622089	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|6/8|c.606G>T|p.Glu202Asp|632/1799|606/1272|202/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|6/8|c.516G>T|p.Glu172Asp|559/1735|516/1182|172/393||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|3/4|c.195G>T|p.Glu65Asp|199/1118|195/672|65/223||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron|1/3|n.2449G>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron|2/4|n.486G>T||||||
22	17625970	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|4/8|c.481C>T|p.Arg161Trp|507/1799|481/1272|161/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|4/8|c.391C>T|p.Arg131Trp|434/1735|391/1182|131/393||,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1C>T|||||1433|,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000486462|retained_intron||n.-1C>T|||||3237|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.*643C>T|||||3368|,A|downstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript||n.*1028C>T|||||3369|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-1949C>T||||||
22	17629357	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|3/8|c.424G>C|p.Val142Leu|450/1799|424/1272|142/423||,G|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|3/8|c.334G>C|p.Val112Leu|377/1735|334/1182|112/393||,G|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1G>C|||||4820|,G|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-5336G>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|2/2|n.624G>C||||||,G|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|3/3|n.1010G>C||||||
22	17629383	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|3/8|c.398G>A|p.Arg133Gln|424/1799|398/1272|133/423||,T|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|3/8|c.308G>A|p.Arg103Gln|351/1735|308/1182|103/393||,T|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000477157|retained_intron||n.-1G>A|||||4846|,T|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/3|c.127-5362G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript|2/2|n.598G>A||||||,T|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|3/3|n.984G>A||||||
22	17640045	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000336737|protein_coding|1/8|c.97C>T|p.Arg33Cys|123/1799|97/1272|33/423||,A|missense_variant|MODERATE|CECR5|ENSG00000069998|transcript|ENST00000399852|protein_coding|1/4|c.97C>T|p.Arg33Cys|101/1118|97/672|33/223||,A|upstream_gene_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000431923|antisense||n.-1G>A|||||244|,A|upstream_gene_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000463033|processed_transcript||n.-1C>T|||||169|,A|upstream_gene_variant|MODIFIER|CECR5-AS1|ENSG00000185837|transcript|ENST00000329743|antisense||n.-1G>A|||||229|,A|intron_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000155674|protein_coding|1/7|c.36+6054C>T||||||,A|non_coding_exon_variant|MODIFIER|CECR5|ENSG00000069998|transcript|ENST00000480451|processed_transcript|1/3|n.14C>T||||||
22	17662444	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|9/9|c.1465G>C|p.Glu489Gln|1677/3925|1465/1536|489/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|10/10|c.1465G>C|p.Glu489Gln|1736/3986|1465/1536|489/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|7/7|c.742G>C|p.Glu248Gln|947/3195|742/813|248/270||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|10/10|c.1339G>C|p.Glu447Gln|1508/2072|1339/1410|447/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|10/10|c.1465G>C|p.Glu489Gln|1532/1603|1465/1536|489/511||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|7/7|c.742G>C||||||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|10/10|c.1465G>C||||||,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510G>C|||||1087|
22	17662767	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|8/9|c.1385T>C|p.Ile462Thr|1597/3925|1385/1536|462/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|9/10|c.1385T>C|p.Ile462Thr|1656/3986|1385/1536|462/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|6/7|c.662T>C|p.Ile221Thr|867/3195|662/813|221/270||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|9/10|c.1259T>C|p.Ile420Thr|1428/2072|1259/1410|420/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|9/10|c.1385T>C|p.Ile462Thr|1452/1603|1385/1536|462/511||,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.*510T>C|||||764|
22	17669238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1072G>A|p.Gly358Arg|1284/3925|1072/1536|358/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1072G>A|p.Gly358Arg|1343/3986|1072/1536|358/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.349G>A|p.Gly117Arg|554/3195|349/813|117/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.946G>A|p.Gly316Arg|1115/2072|946/1410|316/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1072G>A|p.Gly358Arg|1139/1603|1072/1536|358/511||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4588|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1436|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.380G>A||||||
22	17669245	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1065C>A|p.Phe355Leu|1277/3925|1065/1536|355/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1065C>A|p.Phe355Leu|1336/3986|1065/1536|355/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.342C>A|p.Phe114Leu|547/3195|342/813|114/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.939C>A|p.Phe313Leu|1108/2072|939/1410|313/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1065C>A|p.Phe355Leu|1132/1603|1065/1536|355/511||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>T|||||4581|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570C>A|||||1429|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.373C>A||||||
22	17669265	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1045G>A|p.Val349Ile|1257/3925|1045/1536|349/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1045G>A|p.Val349Ile|1316/3986|1045/1536|349/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.322G>A|p.Val108Ile|527/3195|322/813|108/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.919G>A|p.Val307Ile|1088/2072|919/1410|307/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1045G>A|p.Val349Ile|1112/1603|1045/1536|349/511||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||4561|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570G>A|||||1409|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.353G>A||||||
22	17669306	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|6/9|c.1004A>G|p.His335Arg|1216/3925|1004/1536|335/511||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|7/10|c.1004A>G|p.His335Arg|1275/3986|1004/1536|335/511||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|4/7|c.281A>G|p.His94Arg|486/3195|281/813|94/270||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|7/10|c.878A>G|p.His293Arg|1047/2072|878/1410|293/469||,C|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|7/10|c.1004A>G|p.His335Arg|1071/1603|1004/1536|335/511||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|4/7|c.281A>G||||||,C|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|7/10|c.1004A>G||||||,C|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1T>C|||||4520|,C|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.*570A>G|||||1368|,C|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript|1/2|n.312A>G||||||
22	17670854	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/9|c.950C>T|p.Thr317Met|1162/3925|950/1536|317/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/10|c.950C>T|p.Thr317Met|1221/3986|950/1536|317/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/7|c.227C>T|p.Thr76Met|432/3195|227/813|76/270||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/10|c.824C>T|p.Thr275Met|993/2072|824/1410|275/469||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/10|c.950C>T|p.Thr317Met|1017/1603|950/1536|317/511||,A|sequence_feature|LOW|CECR1|ENSG00000093072|turn|ENST00000330232|protein_coding|3/7|c.227C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|turn|ENST00000399837|protein_coding|6/10|c.950C>T||||||,A|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1G>A|||||2972|,A|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1C>T|||||1237|,A|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.390C>T||||||
22	17670877	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|5/9|c.927G>A|p.Met309Ile|1139/3925|927/1536|309/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|6/10|c.927G>A|p.Met309Ile|1198/3986|927/1536|309/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding|3/7|c.204G>A|p.Met68Ile|409/3195|204/813|68/270||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|6/10|c.801G>A|p.Met267Ile|970/2072|801/1410|267/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|6/10|c.927G>A|p.Met309Ile|994/1603|927/1536|309/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000330232|protein_coding|3/7|c.204G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|6/10|c.927G>A||||||,T|upstream_gene_variant|MODIFIER|AC005300.5|ENSG00000236325|transcript|ENST00000428401|processed_pseudogene||n.-1C>T|||||2949|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000469063|processed_transcript||n.-1G>A|||||1260|,T|non_coding_exon_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript|3/3|n.367G>A||||||
22	17684517	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.689G>A|p.Arg230Gln|901/3925|689/1536|230/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.689G>A|p.Arg230Gln|960/3986|689/1536|230/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.563G>A|p.Arg188Gln|732/2072|563/1410|188/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.689G>A|p.Arg230Gln|756/1603|689/1536|230/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.689G>A||||||,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206G>A|||||3844|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1G>A|||||4836|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549G>A|||||3530|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581G>A|||||3579|WARNING_TRANSCRIPT_INCOMPLETE
22	17684619	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.587T>C|p.Ile196Thr|799/3925|587/1536|196/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.587T>C|p.Ile196Thr|858/3986|587/1536|196/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.461T>C|p.Ile154Thr|630/2072|461/1410|154/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.587T>C|p.Ile196Thr|654/1603|587/1536|196/511||,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.587T>C||||||,G|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206T>C|||||3946|,G|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1T>C|||||4938|,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549T>C|||||3428|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581T>C|||||3477|WARNING_TRANSCRIPT_INCOMPLETE
22	17684628	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|3/9|c.578C>A|p.Pro193Gln|790/3925|578/1536|193/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|4/10|c.578C>A|p.Pro193Gln|849/3986|578/1536|193/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|4/10|c.452C>A|p.Pro151Gln|621/2072|452/1410|151/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|4/10|c.578C>A|p.Pro193Gln|645/1603|578/1536|193/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|4/10|c.578C>A||||||,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000330232|protein_coding||c.-206C>A|||||3955|,T|upstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000480276|processed_transcript||n.-1C>A|||||4947|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549C>A|||||3419|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581C>A|||||3468|WARNING_TRANSCRIPT_INCOMPLETE
22	17687992	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.511C>T|p.Arg171Trp|723/3925|511/1536|171/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.511C>T|p.Arg171Trp|782/3986|511/1536|171/511||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.385C>T|p.Arg129Trp|554/2072|385/1410|129/469||,A|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.511C>T|p.Arg171Trp|578/1603|511/1536|171/511||,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|4/10|c.511C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|3/10|c.511C>T||||||,A|sequence_feature|LOW|CECR1|ENSG00000093072|beta_strand|ENST00000399837|protein_coding|3/10|c.511C>T||||||,A|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1G>A|||||2781|,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549C>T|||||55|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581C>T|||||104|WARNING_TRANSCRIPT_INCOMPLETE
22	17687997	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.506G>A|p.Arg169Gln|718/3925|506/1536|169/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.506G>A|p.Arg169Gln|777/3986|506/1536|169/511||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.380G>A|p.Arg127Gln|549/2072|380/1410|127/469||,T|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.506G>A|p.Arg169Gln|573/1603|506/1536|169/511||,T|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|4/10|c.506G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|region_of_interest:PRB_domain|ENST00000399837|protein_coding|3/10|c.506G>A||||||,T|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|3/10|c.506G>A||||||,T|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1C>T|||||2776|,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding||c.*549G>A|||||50|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding||c.*581G>A|||||99|WARNING_TRANSCRIPT_INCOMPLETE
22	17688141	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000262607|protein_coding|2/9|c.362T>C|p.Met121Thr|574/3925|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399839|protein_coding|3/10|c.362T>C|p.Met121Thr|633/3986|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000449907|protein_coding|3/10|c.236T>C|p.Met79Thr|405/2072|236/1410|79/469||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000399837|protein_coding|3/10|c.362T>C|p.Met121Thr|429/1603|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000543038|protein_coding|3/3|c.362T>C|p.Met121Thr|455/549|362/456|121/151||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CECR1|ENSG00000093072|transcript|ENST00000441548|protein_coding|3/3|c.362T>C|p.Met121Thr|536/581|362/407|121/134||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CECR1|ENSG00000093072|helix|ENST00000399837|protein_coding|3/10|c.362T>C||||||,G|upstream_gene_variant|MODIFIER|AC005399.1|ENSG00000269774|transcript|ENST00000600045|pseudogene||n.-1A>G|||||2632|
22	18063849	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|4/11|c.67G>A|p.Val23Met|605/2244|67/948|23/315||,A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|3/10|c.67G>A|p.Val23Met|531/2057|67/948|23/315||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.67G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|transmembrane_region:Transmembrane_region|ENST00000399813|protein_coding|3/10|c.67G>A||||||,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|3/3|n.1663+251C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron|3/4|n.1527G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|3/6|n.553G>A||||||
22	18065385	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/11|c.256A>C|p.Asn86His|794/2244|256/948|86/315||,C|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/10|c.256A>C|p.Asn86His|720/2057|256/948|86/315||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.256A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.256A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.256A>C||||||,C|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.256A>C||||||,C|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454A>C|||||411|,C|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-247T>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/6|n.742A>C||||||
22	18065388	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|6/11|c.259G>A|p.Asp87Asn|797/2244|259/948|87/315||,A|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|5/10|c.259G>A|p.Asp87Asn|723/2057|259/948|87/315||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|4/10|c.259G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|2/10|c.259G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|5/10|c.259G>A||||||,A|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_1|ENST00000399813|protein_coding|3/10|c.259G>A||||||,A|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000467228|retained_intron||n.*2454G>A|||||414|,A|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1327-250C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript|5/6|n.745G>A||||||
22	18070015	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|8/11|c.523C>T|p.Arg175Cys|1061/2244|523/948|175/315||,T|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|7/10|c.523C>T|p.Arg175Cys|987/2057|523/948|175/315||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.523C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.523C>T||||||,T|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.523C>T||||||,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864G>A|||||4887|,T|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845C>T|||||3765|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703G>A|||||4920|,T|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+618G>A||||||
22	18070022	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000327451|protein_coding|8/11|c.530A>G|p.Gln177Arg|1068/2244|530/948|177/315||,G|missense_variant|MODERATE|SLC25A18|ENSG00000182902|transcript|ENST00000399813|protein_coding|7/10|c.530A>G|p.Gln177Arg|994/2057|530/948|177/315||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|7/10|c.530A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|6/10|c.530A>G||||||,G|sequence_feature|LOW|SLC25A18|ENSG00000182902|repeat:Solcar_2|ENST00000399813|protein_coding|8/10|c.530A>G||||||,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding||c.*864T>C|||||4880|,G|downstream_gene_variant|MODIFIER|SLC25A18|ENSG00000182902|transcript|ENST00000497401|processed_transcript||n.*845A>G|||||3772|,G|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding||c.*703T>C|||||4913|,G|intron_variant|MODIFIER|AC004019.13|ENSG00000236754|transcript|ENST00000443935|antisense|1/3|n.1326+611T>C||||||
22	18082836	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|6/9|c.392G>A|p.Arg131Gln|575/1402|392/681|131/226||,T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|5/8|c.302G>A|p.Arg101Gln|414/1208|302/591|101/196||,T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|5/8|c.326G>A|p.Arg109Gln|440/994|326/615|109/204||,T|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|7/9|c.395G>A|p.Arg132Gln|584/800|395/611|132/202||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000473248|retained_intron||n.-1G>A|||||4778|,T|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron||n.*747G>A|||||610|,T|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|5/6|n.361G>A||||||
22	18095609	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000253413|protein_coding|4/9|c.245A>G|p.Lys82Arg|428/1402|245/681|82/226||,C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399796|protein_coding|4/8|c.245A>G|p.Lys82Arg|357/1208|245/591|82/196||,C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000399798|protein_coding|3/8|c.179A>G|p.Lys60Arg|293/994|179/615|60/204||,C|missense_variant|MODERATE|ATP6V1E1|ENSG00000131100|transcript|ENST00000413576|protein_coding|5/9|c.248A>G|p.Lys83Arg|437/800|248/611|83/202||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000460085|processed_transcript||n.*558A>G|||||133|,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000481365|retained_intron|3/6|n.214A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000484653|retained_intron|3/4|n.214A>G||||||,C|non_coding_exon_variant|MODIFIER|ATP6V1E1|ENSG00000131100|transcript|ENST00000478963|processed_transcript|4/4|n.358A>G||||||
22	18165995	.	T	G	.	.	ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|3/7|c.137T>G|p.Ile46Arg|484/2992|137/1458|46/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|4/7|c.137T>G|p.Ile46Arg|876/1381|137/606|46/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|3/6|c.137T>G|p.Ile46Arg|302/2112|137/606|46/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|3/5|c.137T>G|p.Ile46Arg|263/4458|137/516|46/171||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|2/5|c.137T>G|p.Ile46Arg|137/1342|137/315|46/104||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/6|c.-193T>G|||||19044|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/5|c.-123T>G|||||19044|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-19014T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/5|n.838T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/6|n.137T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|2/4|n.146T>G||||||
22	18166021	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|3/7|c.163A>G|p.Ile55Val|510/2992|163/1458|55/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|4/7|c.163A>G|p.Ile55Val|902/1381|163/606|55/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|3/6|c.163A>G|p.Ile55Val|328/2112|163/606|55/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|3/5|c.163A>G|p.Ile55Val|289/4458|163/516|55/171||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|2/5|c.163A>G|p.Ile55Val|163/1342|163/315|55/104||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/6|c.-167A>G|||||19018|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/5|c.-97A>G|||||19018|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-18988A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/5|n.864A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/6|n.163A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|2/4|n.172A>G||||||
22	18171776	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|4/7|c.254G>A|p.Arg85His|601/2992|254/1458|85/485||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|5/7|c.254G>A|p.Arg85His|993/1381|254/606|85/201||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|4/6|c.254G>A|p.Arg85His|419/2112|254/606|85/201||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/5|c.254G>A|p.Arg85His|380/4458|254/516|85/171||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/5|c.*37G>A|||||4316|,A|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay||n.-2G>A|||||64|,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/4|n.930+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/5|n.229+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/5|c.-101+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-13233G>A||||||,A|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-31+5689G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|3/4|n.263G>A||||||
22	18171842	.	T	G	.	.	ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|4/7|c.320T>G|p.Leu107Arg|667/2992|320/1458|107/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|5/7|c.320T>G|p.Leu107Arg|1059/1381|320/606|107/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|4/6|c.320T>G|p.Leu107Arg|485/2112|320/606|107/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/5|c.320T>G|p.Leu107Arg|446/4458|320/516|107/171||,G|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH3|ENST00000317582|protein_coding|4/7|c.320T>G||||||,G|sequence_feature|LOW|BCL2L13|ENSG00000099968|short_sequence_motif:BH3|ENST00000399782|protein_coding|5/7|c.320T>G||||||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/5|c.*103T>G|||||4382|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399781|processed_transcript|4/4|n.930+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|3/5|n.229+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|3/5|c.-101+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|2/3|c.85-13167T>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|3/4|c.-31+5755T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000464649|processed_transcript|3/4|n.329T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|1/3|n.2T>G||||||
22	18185118	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|6/7|c.566A>G|p.Tyr189Cys|913/2992|566/1458|189/485||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|7/7|c.566A>G|p.Tyr189Cys|1305/1381|566/606|189/201||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|5/6|c.80A>G|p.Tyr27Cys|605/2662|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|3/4|c.194A>G|p.Tyr65Cys|411/1469|194/1086|65/361||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|4/5|c.80A>G|p.Tyr27Cys|512/1532|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|6/6|c.566A>G|p.Tyr189Cys|731/2112|566/606|189/201||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*172A>G|||||6204|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*64A>G|||||64|,G|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript||n.-1A>G|||||4358|,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+13210A>G||||||,G|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+13210A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*172A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*64A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|2/2|n.583A>G||||||
22	18185123	.	G	T	.	.	ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|6/7|c.571G>T|p.Ala191Ser|918/2992|571/1458|191/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000399782|protein_coding|7/7|c.571G>T|p.Ala191Ser|1310/1381|571/606|191/201||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|5/6|c.85G>T|p.Ala29Ser|610/2662|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|3/4|c.199G>T|p.Ala67Ser|416/1469|199/1086|67/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|4/5|c.85G>T|p.Ala29Ser|517/1532|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000493680|protein_coding|6/6|c.571G>T|p.Ala191Ser|736/2112|571/606|191/201||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*177G>T|||||6209|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*69G>T|||||69|,T|upstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript||n.-1G>T|||||4353|,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|4/4|c.386+13215G>T||||||,T|intron_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|4/4|c.*169+13215G>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|5/6|n.*177G>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|2/3|n.*69G>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000479296|processed_transcript|2/2|n.588G>T||||||
22	18209496	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.440A>G|p.Gln147Arg|566/4458|440/516|147/171||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.654A>G|p.Ala218Ala|1001/2992|654/1458|218/485||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.168A>G|p.Ala56Ala|693/2662|168/972|56/323||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.282A>G|p.Ala94Ala|499/1469|282/1086|94/361||,G|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.168A>G|p.Ala56Ala|600/1532|168/972|56/323||,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*260A>G|||||30582|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*223A>G|||||42036|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*152A>G|||||24442|,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*260A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*152A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.170A>G||||||
22	18209524	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.682C>T|p.Pro228Ser|1029/2992|682/1458|228/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.196C>T|p.Pro66Ser|721/2662|196/972|66/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.310C>T|p.Pro104Ser|527/1469|310/1086|104/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.196C>T|p.Pro66Ser|628/1532|196/972|66/323||,T|synonymous_variant|LOW|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.468C>T|p.Cys156Cys|594/4458|468/516|156/171||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*288C>T|||||30610|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*251C>T|||||42064|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*180C>T|||||24470|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*288C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*180C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.198C>T||||||
22	18209599	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.757C>T|p.Pro253Ser|1104/2992|757/1458|253/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.271C>T|p.Pro91Ser|796/2662|271/972|91/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.385C>T|p.Pro129Ser|602/1469|385/1086|129/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.271C>T|p.Pro91Ser|703/1532|271/972|91/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|repeat:A|ENST00000317582|protein_coding|7/7|c.757C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*363C>T|||||30685|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*27C>T|||||27|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*326C>T|||||42139|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*255C>T|||||24545|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*363C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*255C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.273C>T||||||
22	18209719	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.877G>A|p.Gly293Arg|1224/2992|877/1458|293/485||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.391G>A|p.Gly131Arg|916/2662|391/972|131/323||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.505G>A|p.Gly169Arg|722/1469|505/1086|169/361||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.391G>A|p.Gly131Arg|823/1532|391/972|131/323||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*483G>A|||||30805|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*147G>A|||||147|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*446G>A|||||42259|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*375G>A|||||24665|,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*483G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*375G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.393G>A||||||
22	18209920	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1078C>T|p.Pro360Ser|1425/2992|1078/1458|360/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.592C>T|p.Pro198Ser|1117/2662|592/972|198/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.706C>T|p.Pro236Ser|923/1469|706/1086|236/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.592C>T|p.Pro198Ser|1024/1532|592/972|198/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|compositionally_biased_region:Glu-rich|ENST00000317582|protein_coding|7/7|c.1078C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*684C>T|||||31006|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*348C>T|||||348|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*647C>T|||||42460|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*576C>T|||||24866|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*684C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*576C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.594C>T||||||
22	18209989	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1147G>A|p.Glu383Lys|1494/2992|1147/1458|383/485||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.661G>A|p.Glu221Lys|1186/2662|661/972|221/323||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.775G>A|p.Glu259Lys|992/1469|775/1086|259/361||,A|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.661G>A|p.Glu221Lys|1093/1532|661/972|221/323||,A|sequence_feature|LOW|BCL2L13|ENSG00000099968|compositionally_biased_region:Glu-rich|ENST00000317582|protein_coding|7/7|c.1147G>A||||||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*753G>A|||||31075|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*417G>A|||||417|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*716G>A|||||42529|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*645G>A|||||24935|,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*753G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*645G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.663G>A||||||
22	18210242	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000317582|protein_coding|7/7|c.1400C>T|p.Ala467Val|1747/2992|1400/1458|467/485||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000543133|protein_coding|6/6|c.914C>T|p.Ala305Val|1439/2662|914/972|305/323||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000538149|protein_coding|4/4|c.1028C>T|p.Ala343Val|1245/1469|1028/1086|343/361||,T|missense_variant|MODERATE|BCL2L13|ENSG00000099968|transcript|ENST00000337612|protein_coding|5/5|c.914C>T|p.Ala305Val|1346/1532|914/972|305/323||,T|sequence_feature|LOW|BCL2L13|ENSG00000099968|transmembrane_region:Transmembrane_region|ENST00000317582|protein_coding|7/7|c.1400C>T||||||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*1006C>T|||||31328|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding|5/5|c.*670C>T|||||670|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000418951|protein_coding|5/5|c.*969C>T|||||42782|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*898C>T|||||25188|,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000498133|nonsense_mediated_decay|6/6|n.*1006C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000399777|nonsense_mediated_decay|3/3|n.*898C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000485631|processed_transcript|2/2|n.916C>T||||||
22	18218353	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|6/6|c.719T>C|p.Met240Thr|1046/2493|719/726|240/241||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|5/5|c.293T>C|p.Met98Thr|681/2126|293/300|98/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|6/6|c.581T>C|p.Met194Thr|751/2167|581/588|194/195||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|4/4|c.293T>C|p.Met98Thr|467/1879|293/300|98/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|6/6|c.581T>C|p.Met194Thr|665/700|581/588|194/195||,G|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|7/7|c.*262T>C|||||3806|,G|downstream_gene_variant|MODIFIER|BCL2L13|ENSG00000099968|transcript|ENST00000355028|protein_coding||c.*642A>G|||||4965|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638T>C|||||2471|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330T>C|||||3861|,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|3/3|n.2064T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|6/6|n.1359T>C||||||
22	18220811	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.686G>A|p.Arg229His|1013/2493|686/726|229/241||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.260G>A|p.Arg87His|648/2126|260/300|87/99||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.548G>A|p.Arg183His|718/2167|548/588|183/195||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.260G>A|p.Arg87His|434/1879|260/300|87/99||,T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.548G>A|p.Arg183His|632/700|548/588|183/195||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.686G>A||||||,T|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.548G>A||||||,T|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*229G>A|||||1348|,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript||n.*638G>A|||||13|,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330G>A|||||1403|,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.2031G>A||||||,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1326G>A||||||
22	18220857	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.640C>T|p.Arg214Cys|967/2493|640/726|214/241||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.214C>T|p.Arg72Cys|602/2126|214/300|72/99||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.502C>T|p.Arg168Cys|672/2167|502/588|168/195||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.214C>T|p.Arg72Cys|388/1879|214/300|72/99||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.502C>T|p.Arg168Cys|586/700|502/588|168/195||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.640C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.502C>T||||||,A|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*183C>T|||||1302|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||1357|,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.1985C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1280C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|4/4|n.605C>T||||||
22	18220916	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|5/6|c.581T>C|p.Met194Thr|908/2493|581/726|194/241||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|4/5|c.155T>C|p.Met52Thr|543/2126|155/300|52/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|5/6|c.443T>C|p.Met148Thr|613/2167|443/588|148/195||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|3/4|c.155T>C|p.Met52Thr|329/1879|155/300|52/99||,G|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|5/6|c.443T>C|p.Met148Thr|527/700|443/588|148/195||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|5/6|c.581T>C||||||,G|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|5/6|c.443T>C||||||,G|3_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|6/7|c.*124T>C|||||1243|,G|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330T>C|||||1298|,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|2/3|n.1926T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|5/6|n.1221T>C||||||,G|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|4/4|n.546T>C||||||
22	18222169	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/7|c.404G>A|p.Arg135Gln|494/854|404/414|135/137||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/6|c.447G>A|p.Pro149Pro|774/2493|447/726|149/241||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/5|c.21G>A|p.Pro7Pro|409/2126|21/300|7/99||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/6|c.309G>A|p.Pro103Pro|479/2167|309/588|103/195||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/4|c.21G>A|p.Pro7Pro|195/1879|21/300|7/99||,T|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/6|c.309G>A|p.Pro103Pro|393/700|309/588|103/195||,T|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330G>A|||||45|,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/3|n.1792G>A||||||,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/6|n.1087G>A||||||,T|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/4|n.412G>A||||||
22	18222199	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|5/7|c.374C>T|p.Ser125Leu|464/854|374/414|125/137||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|4/6|c.417C>T|p.Val139Val|744/2493|417/726|139/241||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|4/6|c.279C>T|p.Val93Val|449/2167|279/588|93/195||,A|synonymous_variant|LOW|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|4/6|c.279C>T|p.Val93Val|363/700|279/588|93/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/5|c.-10C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/4|c.-10C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|short_sequence_motif:BH3|ENST00000317361|protein_coding|4/6|c.417C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|4/6|c.417C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|short_sequence_motif:BH3|ENST00000551952|protein_coding|4/6|c.279C>T||||||,A|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|4/6|c.279C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|3/5|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|2/4|c.-10C>T|||||10|,A|downstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript||n.*330C>T|||||15|,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron|1/3|n.1762C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|4/6|n.1057C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|3/4|n.382C>T||||||
22	18226590	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.340C>T|p.Arg114Cys|667/2493|340/726|114/241||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.202C>T|p.Arg68Cys|372/2167|202/588|68/195||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.202C>T|p.Arg68Cys|292/854|202/414|68/137||,A|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.202C>T|p.Arg68Cys|286/700|202/588|68/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-87C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-87C>T|||||4401|,A|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1C>T|||||2630|,A|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4336C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.292C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.305C>T||||||,A|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.268C>T||||||
22	18226689	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.241A>G|p.Arg81Gly|568/2493|241/726|81/241||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.103A>G|p.Arg35Gly|273/2167|103/588|35/195||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.103A>G|p.Arg35Gly|193/854|103/414|35/137||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.103A>G|p.Arg35Gly|187/700|103/588|35/195||,C|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000317361|protein_coding|3/6|c.241A>G||||||,C|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000342111|protein_coding|3/7|c.103A>G||||||,C|sequence_feature|LOW|BID|ENSG00000015475|helix|ENST00000551952|protein_coding|3/6|c.103A>G||||||,C|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-186A>G|||||4500|,C|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1A>G|||||2729|,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4435A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.193A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.206A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.169A>G||||||
22	18226764	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000317361|protein_coding|3/6|c.166A>G|p.Ser56Gly|493/2493|166/726|56/241||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000399774|protein_coding|3/6|c.28A>G|p.Ser10Gly|198/2167|28/588|10/195||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000342111|protein_coding|3/7|c.28A>G|p.Ser10Gly|118/854|28/414|10/137||,C|missense_variant|MODERATE|BID|ENSG00000015475|transcript|ENST00000551952|protein_coding|3/6|c.28A>G|p.Ser10Gly|112/700|28/588|10/195||,C|5_prime_UTR_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399767|protein_coding|2/5|c.-261A>G|||||4575|,C|upstream_gene_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000494097|retained_intron||n.-1A>G|||||2804|,C|intron_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000399765|protein_coding|1/3|c.-65-4510A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000550946|retained_intron|3/6|n.118A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000473439|processed_transcript|2/4|n.131A>G||||||,C|non_coding_exon_variant|MODIFIER|BID|ENSG00000015475|transcript|ENST00000552886|processed_transcript|2/3|n.94A>G||||||
22	18273560	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|32/32|c.5947G>C|p.Glu1983Gln|6300/9445|5947/6009|1983/2002||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5947G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5947G>C||||||,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.*3622G>C|||||43|,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807G>C|||||152|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519G>C|||||470|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|5/5|n.1186G>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|3/3|n.663G>C||||||
22	18273641	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|32/32|c.5866A>G|p.Ile1956Val|6219/9445|5866/6009|1956/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5866A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5866A>G||||||,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.*807A>G|||||71|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519A>G|||||389|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|5/5|n.1105A>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|3/3|n.582A>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|6/6|n.3584A>G||||||
22	18274009	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|30/32|c.5709G>C|p.Glu1903Asp|6062/9445|5709/6009|1903/2002||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|7/8|c.639G>C|p.Glu213Asp|640/807|639/806|213/267||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5709G>C||||||,G|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5709G>C||||||,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.*519G>C|||||21|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|3/5|n.948G>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000252134|retained_intron|1/3|n.425G>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|4/6|n.3427G>C||||||
22	18293533	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|28/32|c.5492G>A|p.Arg1831His|5845/9445|5492/6009|1831/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|4/8|c.371G>A|p.Arg124His|372/807|371/806|124/267||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|3/6|c.257G>A|p.Arg86His|257/519|257/519|86/172||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|32/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|29/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|31/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|28/32|c.5492G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|coiled-coil_region|ENST00000441493|protein_coding|30/32|c.5492G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000584751|protein_coding||c.-2G>A|||||31|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|XXbac-B461K10.4|ENSG00000093100|transcript|ENST00000476405|retained_intron|1/5|n.731G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript|2/6|n.3210G>A||||||
22	18300089	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5338G>A|p.Val1780Ile|5691/9445|5338/6009|1780/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.166G>A|p.Val56Ile|167/807|166/806|56/267||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/6|c.103G>A|p.Val35Ile|103/519|103/519|35/172||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||1654|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||1699|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||1713|WARNING_TRANSCRIPT_INCOMPLETE
22	18300171	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5256G>T|p.Lys1752Asn|5609/9445|5256/6009|1752/2002||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.84G>T|p.Lys28Asn|85/807|84/806|28/267||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding|1/6|c.21G>T|p.Lys7Asn|21/519|21/519|7/172||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||1736|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1617|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1631|WARNING_TRANSCRIPT_INCOMPLETE
22	18300200	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5227G>T|p.Val1743Phe|5580/9445|5227/6009|1743/2002||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding|1/8|c.55G>T|p.Val19Phe|56/807|55/806|19/267||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||1765|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>T|||||9|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1588|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1602|WARNING_TRANSCRIPT_INCOMPLETE
22	18300277	.	T	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5150A>T|p.Glu1717Val|5503/9445|5150/6009|1717/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>T|||||1842|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>T|||||22|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>T|||||86|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>T|||||1511|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>T|||||1525|WARNING_TRANSCRIPT_INCOMPLETE
22	18300311	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.5116C>T|p.Arg1706Cys|5469/9445|5116/6009|1706/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||1876|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||56|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||120|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1477|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1491|WARNING_TRANSCRIPT_INCOMPLETE
22	18300470	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4957C>A|p.Pro1653Thr|5310/9445|4957/6009|1653/2002||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>A|||||2035|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>A|||||215|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>A|||||279|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>A|||||1318|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>A|||||1332|WARNING_TRANSCRIPT_INCOMPLETE
22	18300491	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4936C>T|p.Arg1646Trp|5289/9445|4936/6009|1646/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2056|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||236|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||300|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1297|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1311|WARNING_TRANSCRIPT_INCOMPLETE
22	18300610	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4817G>T|p.Ser1606Ile|5170/9445|4817/6009|1606/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>T|||||2175|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>T|||||355|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>T|||||419|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>T|||||1178|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>T|||||1192|WARNING_TRANSCRIPT_INCOMPLETE
22	18300637	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4790T>A|p.Met1597Lys|5143/9445|4790/6009|1597/2002||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1T>A|||||2202|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2T>A|||||382|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1T>A|||||446|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593T>A|||||1151|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569T>A|||||1165|WARNING_TRANSCRIPT_INCOMPLETE
22	18300641	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4786C>T|p.Arg1596Cys|5139/9445|4786/6009|1596/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2206|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||386|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||450|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1147|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1161|WARNING_TRANSCRIPT_INCOMPLETE
22	18300724	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4703T>C|p.Leu1568Pro|5056/9445|4703/6009|1568/2002||,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1T>C|||||2289|,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2T>C|||||469|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1T>C|||||533|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593T>C|||||1064|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569T>C|||||1078|WARNING_TRANSCRIPT_INCOMPLETE
22	18300775	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4652C>T|p.Pro1551Leu|5005/9445|4652/6009|1551/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2340|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||520|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||584|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||1013|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1027|WARNING_TRANSCRIPT_INCOMPLETE
22	18300793	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4634C>T|p.Thr1545Met|4987/9445|4634/6009|1545/2002||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2358|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||538|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||602|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||995|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||1009|WARNING_TRANSCRIPT_INCOMPLETE
22	18300844	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4583A>G|p.Asp1528Gly|4936/9445|4583/6009|1528/2002||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||2409|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||589|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||653|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||944|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||958|WARNING_TRANSCRIPT_INCOMPLETE
22	18300940	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4487G>A|p.Arg1496Gln|4840/9445|4487/6009|1496/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4487G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4487G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4487G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2505|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||685|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||749|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||848|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||862|WARNING_TRANSCRIPT_INCOMPLETE
22	18301084	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4343C>T|p.Ser1448Leu|4696/9445|4343/6009|1448/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4343C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4343C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4343C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2649|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||829|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||893|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||704|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||718|WARNING_TRANSCRIPT_INCOMPLETE,A|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.2|||||||||,A|TF_binding_site_variant|MODIFIER|||Nrsf|MA0138.1|||||||||
22	18301172	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4255C>T|p.Arg1419Cys|4608/9445|4255/6009|1419/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4255C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4255C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4255C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2737|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||917|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||981|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||616|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||630|WARNING_TRANSCRIPT_INCOMPLETE
22	18301186	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4241G>A|p.Ser1414Asn|4594/9445|4241/6009|1414/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4241G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4241G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4241G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2751|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||931|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||995|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||602|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||616|WARNING_TRANSCRIPT_INCOMPLETE
22	18301190	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4237C>T|p.Arg1413Cys|4590/9445|4237/6009|1413/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4237C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4237C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4237C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||2755|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||935|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||999|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||598|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||612|WARNING_TRANSCRIPT_INCOMPLETE
22	18301238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.4189G>A|p.Glu1397Lys|4542/9445|4189/6009|1397/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.4189G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.4189G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.4189G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||2803|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||983|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||1047|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||550|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||564|WARNING_TRANSCRIPT_INCOMPLETE
22	18301508	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3919A>G|p.Arg1307Gly|4272/9445|3919/6009|1307/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3919A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3919A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3919A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||3073|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||1253|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||1317|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||280|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||294|WARNING_TRANSCRIPT_INCOMPLETE
22	18301570	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3857C>T|p.Pro1286Leu|4210/9445|3857/6009|1286/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3857C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3857C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3857C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3135|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1315|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1379|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||218|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||232|WARNING_TRANSCRIPT_INCOMPLETE
22	18301600	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3827C>T|p.Thr1276Ile|4180/9445|3827/6009|1276/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3827C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3827C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3827C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3165|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1345|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1409|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||188|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||202|WARNING_TRANSCRIPT_INCOMPLETE
22	18301666	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3761C>T|p.Pro1254Leu|4114/9445|3761/6009|1254/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3761C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3761C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3761C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1C>T|||||3231|,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>T|||||1411|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>T|||||1475|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593C>T|||||122|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569C>T|||||136|WARNING_TRANSCRIPT_INCOMPLETE
22	18301685	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3742G>A|p.Val1248Met|4095/9445|3742/6009|1248/2002||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3742G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3742G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3742G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1G>A|||||3250|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||1430|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||1494|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593G>A|||||103|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569G>A|||||117|WARNING_TRANSCRIPT_INCOMPLETE
22	18301693	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|26/32|c.3734A>G|p.Gln1245Arg|4087/9445|3734/6009|1245/2002||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3734A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3734A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3734A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000580469|processed_transcript||n.-1A>G|||||3258|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||1438|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||1502|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.*593A>G|||||95|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.*569A>G|||||109|WARNING_TRANSCRIPT_INCOMPLETE
22	18304804	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3440A>G|p.Gln1147Arg|3793/9445|3440/6009|1147/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.392A>G|p.Gln131Arg|394/593|392/591|131/196||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.383A>G|p.Gln128Arg|384/569|383/568|128/188||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3440A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3440A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3440A>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2A>G|||||4549|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1A>G|||||4613|WARNING_TRANSCRIPT_NO_START_CODON
22	18304814	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3430C>G|p.Pro1144Ala|3783/9445|3430/6009|1144/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.382C>G|p.Pro128Ala|384/593|382/591|128/196||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.373C>G|p.Pro125Ala|374/569|373/568|125/188||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|25/32|c.3430C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|24/32|c.3430C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Pro-rich|ENST00000441493|protein_coding|26/32|c.3430C>G||||||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2C>G|||||4559|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1C>G|||||4623|WARNING_TRANSCRIPT_NO_START_CODON
22	18304891	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|24/32|c.3353G>A|p.Arg1118His|3706/9445|3353/6009|1118/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|3/5|c.305G>A|p.Arg102His|307/593|305/591|102/196||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|4/6|c.296G>A|p.Arg99His|297/569|296/568|99/188||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3353G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3353G>A||||||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000577821|protein_coding||c.-2G>A|||||4636|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000579997|protein_coding||c.-1G>A|||||4700|WARNING_TRANSCRIPT_NO_START_CODON
22	18305797	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|23/32|c.3223G>A|p.Asp1075Asn|3576/9445|3223/6009|1075/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|2/5|c.175G>A|p.Asp59Asn|177/593|175/591|59/196||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|3/6|c.166G>A|p.Asp56Asn|167/569|166/568|56/188||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3223G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3223G>A||||||
22	18310424	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|22/32|c.3179C>T|p.Ser1060Phe|3532/9445|3179/6009|1060/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3179C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3179C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/4|c.145+4196C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/5|c.74-1142C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	18310439	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|22/32|c.3164C>T|p.Ala1055Val|3517/9445|3164/6009|1055/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.3164C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.3164C>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding|1/4|c.145+4181C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding|1/5|c.74-1157C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	18314815	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|21/32|c.2860C>T|p.Pro954Ser|3213/9445|2860/6009|954/2002||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2860C>T||||||,A|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2860C>T||||||,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498573|protein_coding||c.-3C>T|||||49|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578984|protein_coding||c.-2C>T|||||122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding||c.*2924C>T|||||2279|,A|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding||c.*3254C>T|||||2289|
22	18324564	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|20/20|c.2909G>A|p.Arg970His|2909/4756|2909/2931|970/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|19/19|c.2825G>A|p.Arg942His|2840/2963|2825/2847|942/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|21/21|c.2909G>A|p.Arg970His|3262/3284|2909/2931|970/976||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2801+24G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2801+24G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1716G>A|||||55023|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|20/31|c.2801+24G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|19/19|c.2801+24G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|20/20|c.2801+24G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1716G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578905|retained_intron|1/1|n.685G>A||||||
22	18324571	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|20/20|c.2902G>A|p.Ala968Thr|2902/4756|2902/2931|968/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|19/19|c.2818G>A|p.Ala940Thr|2833/2963|2818/2847|940/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|21/21|c.2902G>A|p.Ala968Thr|3255/3284|2902/2931|968/976||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|23/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|24/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|22/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|21/32|c.2801+17G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|compositionally_biased_region:Glu-rich|ENST00000441493|protein_coding|20/32|c.2801+17G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1709G>A|||||55016|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|20/31|c.2801+17G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|19/19|c.2801+17G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|20/20|c.2801+17G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|19/19|n.*1709G>A||||||,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000578905|retained_intron|1/1|n.678G>A||||||
22	18347695	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/32|c.2575G>A|p.Ala859Thr|2928/9445|2575/6009|859/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/20|c.2575G>A|p.Ala859Thr|2598/3046|2575/2901|859/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/21|c.2575G>A|p.Ala859Thr|2928/3366|2575/2901|859/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/20|c.2659G>A|p.Ala887Thr|2659/4756|2659/2931|887/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/19|c.2575G>A|p.Ala859Thr|2590/2963|2575/2847|859/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/21|c.2659G>A|p.Ala887Thr|3012/3284|2659/2931|887/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.2947G>A|p.Ala983Thr|3300/8073|2947/3222|983/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1213G>A|p.Ala405Thr|1215/5981|1213/1488|405/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.2947G>A|p.Ala983Thr|3009/3323|2947/3222|983/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1466G>A|||||31892|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||995|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1466G>A||||||
22	18347707	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|19/32|c.2563G>A|p.Gly855Arg|2916/9445|2563/6009|855/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|18/20|c.2563G>A|p.Gly855Arg|2586/3046|2563/2901|855/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|19/21|c.2563G>A|p.Gly855Arg|2916/3366|2563/2901|855/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|19/20|c.2647G>A|p.Gly883Arg|2647/4756|2647/2931|883/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|18/19|c.2563G>A|p.Gly855Arg|2578/2963|2563/2847|855/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|20/21|c.2647G>A|p.Gly883Arg|3000/3284|2647/2931|883/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|23/23|c.2935G>A|p.Gly979Arg|3288/8073|2935/3222|979/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|11/11|c.1201G>A|p.Gly401Arg|1203/5981|1201/1488|401/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|22/22|c.2935G>A|p.Gly979Arg|2997/3323|2935/3222|979/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1454G>A|||||31880|,T|downstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.*572G>A|||||983|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|18/19|n.*1454G>A||||||
22	18354783	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|17/32|c.2248A>C|p.Met750Leu|2601/9445|2248/6009|750/2002||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|16/20|c.2248A>C|p.Met750Leu|2271/3046|2248/2901|750/966||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|17/21|c.2248A>C|p.Met750Leu|2601/3366|2248/2901|750/966||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|17/20|c.2332A>C|p.Met778Leu|2332/4756|2332/2931|778/976||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|16/19|c.2248A>C|p.Met750Leu|2263/2963|2248/2847|750/948||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|18/21|c.2332A>C|p.Met778Leu|2685/3284|2332/2931|778/976||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|21/23|c.2620A>C|p.Met874Leu|2973/8073|2620/3222|874/1073||,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|9/11|c.886A>C|p.Met296Leu|888/5981|886/1488|296/495||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|20/22|c.2620A>C|p.Met874Leu|2682/3323|2620/3222|874/1073||,G|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1139A>C|||||24804|,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|16/19|n.*1139A>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|2/3|n.303A>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|2/2|n.472A>C||||||,G|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|3/3|n.455A>C||||||
22	18355576	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|20/23|c.2550G>T|p.Glu850Asp|2903/8073|2550/3222|850/1073||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|19/22|c.2550G>T|p.Glu850Asp|2612/3323|2550/3222|850/1073||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-787G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.297-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.466-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|2/2|n.449-787G>T||||||
22	18358301	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|19/23|c.2417G>A|p.Arg806His|2770/8073|2417/3222|806/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|18/22|c.2417G>A|p.Arg806His|2479/3323|2417/3222|806/1073||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1133-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2326-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2326-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.880-3512G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript|1/2|n.296+873G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript|1/1|n.465+873G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript|1/2|n.333-209G>A||||||
22	18362122	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/23|c.2387A>G|p.His796Arg|2740/8073|2387/3222|796/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/22|c.2387A>G|p.His796Arg|2449/3323|2387/3222|796/1073||,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1A>G|||||2653|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1A>G|||||2484|,C|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1A>G|||||2617|,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4919A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4919A>G||||||,C|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4919A>G||||||WARNING_TRANSCRIPT_NO_START_CODON
22	18362128	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|18/23|c.2381G>A|p.Ser794Asn|2734/8073|2381/3222|794/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|17/22|c.2381G>A|p.Ser794Asn|2443/3323|2381/3222|794/1073||,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000462645|processed_transcript||n.-1G>A|||||2659|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000465886|processed_transcript||n.-1G>A|||||2490|,T|upstream_gene_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000498345|processed_transcript||n.-1G>A|||||2623|,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/31|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/19|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/20|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/18|n.*1132+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|16/19|c.2325+4913G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/18|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|17/20|c.2325+4913G>A||||||,T|intron_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|8/10|c.879+4913G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	18368793	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/32|c.2092G>A|p.Gly698Arg|2445/9445|2092/6009|698/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/20|c.2092G>A|p.Gly698Arg|2115/3046|2092/2901|698/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/21|c.2092G>A|p.Gly698Arg|2445/3366|2092/2901|698/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|15/20|c.2092G>A|p.Gly698Arg|2092/4756|2092/2931|698/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/19|c.2092G>A|p.Gly698Arg|2107/2963|2092/2847|698/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|16/21|c.2092G>A|p.Gly698Arg|2445/3284|2092/2931|698/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|16/23|c.2092G>A|p.Gly698Arg|2445/8073|2092/3222|698/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|7/11|c.646G>A|p.Gly216Arg|648/5981|646/1488|216/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|15/22|c.2092G>A|p.Gly698Arg|2154/3323|2092/3222|698/1073||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*983G>A|||||10794|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*983G>A||||||
22	18368805	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|16/32|c.2080C>T|p.Arg694Trp|2433/9445|2080/6009|694/2002||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|15/20|c.2080C>T|p.Arg694Trp|2103/3046|2080/2901|694/966||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|16/21|c.2080C>T|p.Arg694Trp|2433/3366|2080/2901|694/966||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|15/20|c.2080C>T|p.Arg694Trp|2080/4756|2080/2931|694/976||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|15/19|c.2080C>T|p.Arg694Trp|2095/2963|2080/2847|694/948||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|16/21|c.2080C>T|p.Arg694Trp|2433/3284|2080/2931|694/976||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|16/23|c.2080C>T|p.Arg694Trp|2433/8073|2080/3222|694/1073||,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|7/11|c.634C>T|p.Arg212Trp|636/5981|634/1488|212/495||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|15/22|c.2080C>T|p.Arg694Trp|2142/3323|2080/3222|694/1073||,A|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*971C>T|||||10782|,A|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|15/19|n.*971C>T||||||
22	18369986	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|15/32|c.2017A>G|p.Lys673Glu|2370/9445|2017/6009|673/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|14/20|c.2017A>G|p.Lys673Glu|2040/3046|2017/2901|673/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|15/21|c.2017A>G|p.Lys673Glu|2370/3366|2017/2901|673/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|14/20|c.2017A>G|p.Lys673Glu|2017/4756|2017/2931|673/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|14/19|c.2017A>G|p.Lys673Glu|2032/2963|2017/2847|673/948||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|15/21|c.2017A>G|p.Lys673Glu|2370/3284|2017/2931|673/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|15/23|c.2017A>G|p.Lys673Glu|2370/8073|2017/3222|673/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|6/11|c.571A>G|p.Lys191Glu|573/5981|571/1488|191/495||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|14/22|c.2017A>G|p.Lys673Glu|2079/3323|2017/3222|673/1073||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000441493|protein_coding|15/32|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000441493|protein_coding|14/32|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000400561|protein_coding|14/20|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000400561|protein_coding|13/20|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000383094|protein_coding|14/19|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000383094|protein_coding|13/19|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000207726|protein_coding|15/21|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000207726|protein_coding|14/21|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000585038|protein_coding|14/22|c.2017A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|short_sequence_motif:Nuclear_localization_signal|ENST00000585038|protein_coding|13/22|c.2017A>G||||||,C|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|14/19|n.*908A>G|||||9601|,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|14/19|n.*908A>G||||||
22	18371961	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|13/32|c.1730A>G|p.Lys577Arg|2083/9445|1730/6009|577/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|12/20|c.1730A>G|p.Lys577Arg|1753/3046|1730/2901|577/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|13/21|c.1730A>G|p.Lys577Arg|2083/3366|1730/2901|577/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|12/20|c.1730A>G|p.Lys577Arg|1730/4756|1730/2931|577/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|12/19|c.1730A>G|p.Lys577Arg|1745/2963|1730/2847|577/948||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|13/21|c.1730A>G|p.Lys577Arg|2083/3284|1730/2931|577/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|13/23|c.1730A>G|p.Lys577Arg|2083/8073|1730/3222|577/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|4/11|c.284A>G|p.Lys95Arg|286/5981|284/1488|95/495||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|12/22|c.1730A>G|p.Lys577Arg|1792/3323|1730/3222|577/1073||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|12/32|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000441493|protein_coding|13/32|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000441493|protein_coding|13/32|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|12/20|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000400561|protein_coding|11/20|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000400561|protein_coding|12/20|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|12/19|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000383094|protein_coding|11/19|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000383094|protein_coding|12/19|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|13/21|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000207726|protein_coding|12/21|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000207726|protein_coding|13/21|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|12/22|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|domain:CH|ENST00000585038|protein_coding|11/22|c.1730A>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|helix|ENST00000585038|protein_coding|12/22|c.1730A>G||||||,C|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|12/19|n.*621A>G|||||7626|,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|12/19|n.*621A>G||||||
22	18376646	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|11/32|c.1474G>A|p.Glu492Lys|1827/9445|1474/6009|492/2002||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|10/20|c.1474G>A|p.Glu492Lys|1497/3046|1474/2901|492/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|11/21|c.1474G>A|p.Glu492Lys|1827/3366|1474/2901|492/966||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|10/20|c.1474G>A|p.Glu492Lys|1474/4756|1474/2931|492/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|10/19|c.1474G>A|p.Glu492Lys|1489/2963|1474/2847|492/948||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|11/21|c.1474G>A|p.Glu492Lys|1827/3284|1474/2931|492/976||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|11/23|c.1474G>A|p.Glu492Lys|1827/8073|1474/3222|492/1073||,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000461307|protein_coding|2/11|c.28G>A|p.Glu10Lys|30/5981|28/1488|10/495||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|10/22|c.1474G>A|p.Glu492Lys|1536/3323|1474/3222|492/1073||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.1474G>A||||||,T|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.1474G>A||||||,T|3_prime_UTR_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|10/19|n.*365G>A|||||2941|,T|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|10/19|n.*365G>A||||||
22	18389548	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000441493|protein_coding|2/32|c.31C>G|p.Pro11Ala|384/9445|31/6009|11/2002||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000400561|protein_coding|1/20|c.31C>G|p.Pro11Ala|54/3046|31/2901|11/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000444520|protein_coding|2/21|c.31C>G|p.Pro11Ala|384/3366|31/2901|11/966||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000414725|protein_coding|1/20|c.31C>G|p.Pro11Ala|31/4756|31/2931|11/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000383094|protein_coding|1/19|c.31C>G|p.Pro11Ala|46/2963|31/2847|11/948||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000207726|protein_coding|2/21|c.31C>G|p.Pro11Ala|384/3284|31/2931|11/976||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000429452|protein_coding|2/23|c.31C>G|p.Pro11Ala|384/8073|31/3222|11/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000585038|protein_coding|1/22|c.31C>G|p.Pro11Ala|93/3323|31/3222|11/1073||,C|missense_variant|MODERATE|MICAL3|ENSG00000243156|transcript|ENST00000424046|protein_coding|2/3|c.31C>G|p.Pro11Ala|197/542|31/376|11/124||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|9/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|6/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|11/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|4/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|5/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|10/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|2/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|7/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|8/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000441493|protein_coding|3/32|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|8/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|1/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|5/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|10/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|3/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|6/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|7/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|4/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|2/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000400561|protein_coding|9/20|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|8/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|5/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|10/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|1/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|3/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|6/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|7/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|4/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|2/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000383094|protein_coding|9/19|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|9/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|6/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|2/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|11/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|4/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|7/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|8/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|5/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|3/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000207726|protein_coding|10/21|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|8/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|1/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|5/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|10/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|3/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|6/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|7/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|4/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|2/22|c.31C>G||||||,C|sequence_feature|LOW|MICAL3|ENSG00000243156|region_of_interest:Monooxygenase_domain|ENST00000585038|protein_coding|9/22|c.31C>G||||||,C|non_coding_exon_variant|MODIFIER|MICAL3|ENSG00000243156|transcript|ENST00000495076|nonsense_mediated_decay|2/19|n.31C>G||||||
22	18561272	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|2/6|c.130C>T|p.Leu44Phe|336/18445|130/918|44/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|1/5|c.130C>T|p.Leu44Phe|499/1672|130/918|44/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|1/4|c.130C>T|p.Leu44Phe|130/815|130/771|44/256||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.130C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.130C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.130C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.130C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1G>A|||||709|,T|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210G>A|||||2960|,T|non_coding_exon_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense|1/1|n.379G>A||||||,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|1/6|n.130C>T||||||
22	18562734	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|3/6|c.325T>C|p.Tyr109His|531/18445|325/918|109/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|2/5|c.325T>C|p.Tyr109His|694/1672|325/918|109/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|2/4|c.325T>C|p.Tyr109His|325/815|325/771|109/256||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.325T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.325T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.325T>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.325T>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1A>G|||||1084|,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000426483|antisense||n.-1A>G|||||2171|,C|downstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.*210A>G|||||1498|,C|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/6|n.325T>C||||||
22	18566240	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|4/6|c.409G>C|p.Val137Leu|615/18445|409/918|137/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|3/5|c.409G>C|p.Val137Leu|778/1672|409/918|137/305||,C|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/4|c.409G>C|p.Val137Leu|409/815|409/771|137/256||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.409G>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.409G>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.409G>C||||||,C|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.409G>C||||||,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1C>G|||||4590|,C|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1C>G|||||1799|,C|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+3460G>C||||||
22	18566288	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|4/6|c.457C>G|p.Leu153Val|663/18445|457/918|153/305||,G|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|3/5|c.457C>G|p.Leu153Val|826/1672|457/918|153/305||,G|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/4|c.457C>G|p.Leu153Val|457/815|457/771|153/256||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.457C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.457C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.457C>G||||||,G|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.457C>G||||||,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.9|ENSG00000225335|transcript|ENST00000607927|antisense||n.-1G>C|||||4638|,G|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1G>C|||||1847|,G|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+3508C>G||||||
22	18567938	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|5/6|c.728C>T|p.Ala243Val|934/18445|728/918|243/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|4/5|c.728C>T|p.Ala243Val|1097/1672|728/918|243/305||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|4/5|c.728C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|1/5|c.728C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|2/5|c.728C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Cytoplasmic|ENST00000399744|protein_coding|3/5|c.728C>T||||||,T|upstream_gene_variant|MODIFIER|XXbac-B476C20.11|ENSG00000236890|transcript|ENST00000427227|processed_pseudogene||n.-1G>A|||||3497|,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+5158C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|3/3|c.667+1440C>T||||||
22	18570774	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.851C>T|p.Ala284Val|1057/18445|851/918|284/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.851C>T|p.Ala284Val|1220/1672|851/918|284/305||,T|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.704C>T|p.Ala235Val|704/815|704/771|235/256||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|4/5|c.851C>T||||||,T|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|5/5|c.851C>T||||||,T|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+7994C>T||||||
22	18570834	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000329627|protein_coding|6/6|c.911G>A|p.Arg304His|1117/18445|911/918|304/305||,A|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000399744|protein_coding|5/5|c.911G>A|p.Arg304His|1280/1672|911/918|304/305||,A|missense_variant|MODERATE|PEX26|ENSG00000215193|transcript|ENST00000428061|protein_coding|4/4|c.764G>A|p.Arg255His|764/815|764/771|255/256||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|4/5|c.911G>A||||||,A|sequence_feature|LOW|PEX26|ENSG00000215193|topological_domain:Peroxisomal_matrix|ENST00000399744|protein_coding|5/5|c.911G>A||||||,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.371+8054G>A||||||
22	18604207	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.37C>A|p.Pro13Thr|334/1700|37/1403|13/466||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.372-39C>A||||||,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|1/2|c.-195-39C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|1/4|c.-195-39C>A||||||,A|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|1/4|c.4-39C>A||||||
22	18604238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.68C>T|p.Ser23Phe|365/1700|68/1403|23/466||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|2/5|n.372-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|1/2|c.-195-8C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|1/4|c.-195-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|1/4|c.4-8C>T||||||
22	18604298	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|1/4|c.128C>T|p.Ala43Val|425/1700|128/1403|43/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|2/5|c.56C>T|p.Ala19Val|129/2018|56/1350|19/449||,T|5_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|2/3|c.-143C>T|||||143|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|2/5|c.-143C>T|||||143|,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|3/6|n.424C>T||||||
22	18606946	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/4|c.322C>T|p.Arg108Cys|619/1700|322/1403|108/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|3/3|c.52C>T|p.Arg18Cys|493/582|52/141|18/46||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/5|c.52C>T|p.Arg18Cys|400/1518|52/1152|18/383||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/5|c.250C>T|p.Arg84Cys|323/2018|250/1350|84/449||,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*48C>T|||||2502|,T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2C>T|||||2528|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*48C>T||||||
22	18606947	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|2/4|c.323G>A|p.Arg108His|620/1700|323/1403|108/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding|3/3|c.53G>A|p.Arg18His|494/582|53/141|18/46||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|3/5|c.53G>A|p.Arg18His|401/1518|53/1152|18/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|3/5|c.251G>A|p.Arg84His|324/2018|251/1350|84/449||,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*49G>A|||||2503|,A|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2G>A|||||2527|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|4/6|n.*49G>A||||||
22	18609128	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.455C>T|p.Ala152Val|752/1700|455/1403|152/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.185C>T|p.Ala62Val|533/1518|185/1152|62/383||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.383C>T|p.Ala128Val|456/2018|383/1350|128/449||,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*181C>T|||||4684|,T|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2C>T|||||346|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2093|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*181C>T||||||
22	18609290	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.617T>C|p.Val206Ala|914/1700|617/1403|206/466||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.347T>C|p.Val116Ala|695/1518|347/1152|116/383||,C|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.545T>C|p.Val182Ala|618/2018|545/1350|182/449||,C|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*343T>C|||||4846|,C|upstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding||c.-2T>C|||||184|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582T>C|||||2255|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*343T>C||||||
22	18609481	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.808G>A|p.Gly270Arg|1105/1700|808/1403|270/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.538G>A|p.Gly180Arg|886/1518|538/1152|180/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.736G>A|p.Gly246Arg|809/2018|736/1350|246/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.7G>A|p.Gly3Arg|8/1391|7/825|3/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*534G>A|||||5037|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2446|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*534G>A||||||
22	18609493	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.820G>A|p.Val274Met|1117/1700|820/1403|274/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.550G>A|p.Val184Met|898/1518|550/1152|184/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.748G>A|p.Val250Met|821/2018|748/1350|250/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.19G>A|p.Val7Met|20/1391|19/825|7/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*546G>A|||||5049|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2458|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*546G>A||||||
22	18609647	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.974A>G|p.Gln325Arg|1271/1700|974/1403|325/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.704A>G|p.Gln235Arg|1052/1518|704/1152|235/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.902A>G|p.Gln301Arg|975/2018|902/1350|301/449||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.173A>G|p.Gln58Arg|174/1391|173/825|58/274||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*700A>G|||||5203|,G|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582A>G|||||2612|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*700A>G||||||
22	18609661	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.988G>A|p.Asp330Asn|1285/1700|988/1403|330/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.718G>A|p.Asp240Asn|1066/1518|718/1152|240/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.916G>A|p.Asp306Asn|989/2018|916/1350|306/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.187G>A|p.Asp63Asn|188/1391|187/825|63/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*714G>A|||||5217|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2626|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*714G>A||||||
22	18609703	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.1030C>T|p.Arg344Trp|1327/1700|1030/1403|344/466||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.760C>T|p.Arg254Trp|1108/1518|760/1152|254/383||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.958C>T|p.Arg320Trp|1031/2018|958/1350|320/449||,T|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.229C>T|p.Arg77Trp|230/1391|229/825|77/274||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*756C>T|||||5259|,T|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582C>T|||||2668|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*756C>T||||||
22	18609712	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|3/4|c.1039G>A|p.Val347Met|1336/1700|1039/1403|347/466||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|4/5|c.769G>A|p.Val257Met|1117/1518|769/1152|257/383||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|4/5|c.967G>A|p.Val323Met|1040/2018|967/1350|323/449||,A|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|1/3|c.238G>A|p.Val80Met|239/1391|238/825|80/274||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*765G>A|||||5268|,A|downstream_gene_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000426208|protein_coding||c.*582G>A|||||2677|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|5/6|n.*765G>A||||||
22	18613682	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1201A>G|p.Met401Val|1498/1700|1201/1403|401/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.931A>G|p.Met311Val|1279/1518|931/1152|311/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1129A>G|p.Met377Val|1202/2018|1129/1350|377/449||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/3|c.400A>G|p.Met134Val|401/1391|400/825|134/274||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*927A>G|||||9238|,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*927A>G||||||
22	18613770	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1289A>G|p.His430Arg|1586/1700|1289/1403|430/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.1019A>G|p.His340Arg|1367/1518|1019/1152|340/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1217A>G|p.His406Arg|1290/2018|1217/1350|406/449||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/3|c.488A>G|p.His163Arg|489/1391|488/825|163/274||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1015A>G|||||9326|,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1015A>G||||||
22	18613846	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000416740|protein_coding|4/4|c.1365T>G|p.Asp455Glu|1662/1700|1365/1403|455/466||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000316027|protein_coding|5/5|c.1095T>G|p.Asp365Glu|1443/1518|1095/1152|365/383||,G|missense_variant|MODERATE|TUBA8|ENSG00000183785|transcript|ENST00000330423|protein_coding|5/5|c.1293T>G|p.Asp431Glu|1366/2018|1293/1350|431/449||,G|3_prime_UTR_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1091T>G|||||9402|,G|intron_variant|MODIFIER|TUBA8|ENSG00000183785|transcript|ENST00000608634|protein_coding|2/2|c.491+73T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|PEX26|ENSG00000215193|transcript|ENST00000474897|nonsense_mediated_decay|6/6|n.*1091T>G||||||
22	18640527	.	G	A	.	.	ANN=A|missense_variant|MODERATE|USP18|ENSG00000184979|transcript|ENST00000215794|protein_coding|2/11|c.97G>A|p.Asp33Asn|527/2129|97/1119|33/372||
22	18897756	.	C	A,G	.	.	ANN=A|missense_variant|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/5|c.343C>A|p.Leu115Ile|495/1214|343/663|115/220||,G|missense_variant|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/5|c.343C>G|p.Leu115Val|495/1214|343/663|115/220||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.343C>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.343C>A||||||,A|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.343C>A||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.343C>G||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.343C>G||||||,G|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.343C>G||||||,A|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/5|c.-66C>A|||||681|,G|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/5|c.-66C>G|||||681|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>A|||||11|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>G|||||11|,A|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>A|||||3354|,G|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>G|||||3354|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>C|||||2539|,A|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>A|||||1974|,G|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>G|||||1974|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>T|||||2538|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>C|||||2538|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>T|||||2538|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>C|||||2538|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>T|||||2539|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>C|||||2539|,A|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>T|||||4287|,G|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>C|||||4287|,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*11C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/6|n.462C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/6|n.462C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*262C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.378C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.378C>G||||||,A|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/4|n.103C>A||||||,G|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/4|n.103C>G||||||
22	18897763	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding|3/5|c.350C>T|p.Ala117Val|502/1214|350/663|117/220||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|3/5|c.350C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|4/5|c.350C>T||||||,T|sequence_feature|LOW|DGCR6|ENSG00000183628|coiled-coil_region|ENST00000331444|protein_coding|2/5|c.350C>T||||||,T|5_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding|3/5|c.-59C>T|||||674|,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*18C>T|||||18|,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*269C>T|||||3361|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding||c.*2069G>A|||||2532|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000608842|protein_coding||c.*457C>T|||||1981|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron||n.*3106G>A|||||2531|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding||c.*1640G>A|||||2531|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.*2961G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.*2567G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.*4676G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding||c.*1592G>A|||||2532|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||4280|,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|3/5|n.*18C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay|4/6|n.469C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay|3/5|n.*269C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron|2/2|n.385C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript|2/4|n.110C>T||||||
22	18901004	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|13/14|c.1562G>A|p.Arg521Gln|1828/2462|1562/1803|521/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|13/14|c.1238G>A|p.Arg413Gln|1399/2034|1238/1479|413/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|13/14|c.1238G>A|p.Arg413Gln|1351/1985|1238/1479|413/492||,T|3_prime_UTR_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*2133C>T|||||3259|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000331444|protein_coding||c.*815C>T|||||1403|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000413981|protein_coding||c.*640C>T|||||1403|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000427407|nonsense_mediated_decay||n.*513C>T|||||1409|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000480608|nonsense_mediated_decay||n.*455C>T|||||1404|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000477156|retained_intron||n.*524C>T|||||3102|,T|downstream_gene_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000436645|processed_transcript||n.*812C>T|||||1413|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.*4739G>A|||||1039|,T|non_coding_exon_variant|MODIFIER|DGCR6|ENSG00000183628|transcript|ENST00000483718|nonsense_mediated_decay|5/5|n.*2133C>T||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|12/13|n.2471G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron|5/6|n.2327G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|8/9|n.1933G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|10/11|n.4042G>A||||||
22	18910355	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|6/14|c.824C>A|p.Thr275Asn|1090/2462|824/1803|275/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|6/14|c.500C>A|p.Thr167Asn|661/2034|500/1479|167/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|6/14|c.500C>A|p.Thr167Asn|613/1985|500/1479|167/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|4/6|c.404C>A|p.Thr135Asn|405/553|404/552|135/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|6/7|c.347C>A|p.Thr116Asn|536/594|347/405|116/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>A|||||1268|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>A|||||1288|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>A|||||1303|,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding||c.*491C>A|||||38|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.*632C>A|||||1883|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|6/13|n.832C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron|1/9|n.1161C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|5/11|n.860C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron|2/3|n.288C>A||||||
22	18912581	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.650G>A|p.Arg217His|916/2462|650/1803|217/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.326G>A|p.Arg109His|487/2034|326/1479|109/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.326G>A|p.Arg109His|439/1985|326/1479|109/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.295G>A|p.Ala99Thr|296/553|295/552|99/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.173G>A|p.Arg58His|362/594|173/405|58/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.418G>A|p.Ala140Thr|420/491|418/489|140/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3494|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1066|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3514|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3529|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1758|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.658G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.505G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.289G>A||||||
22	18912606	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.625G>A|p.Asp209Asn|891/2462|625/1803|209/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.301G>A|p.Asp101Asn|462/2034|301/1479|101/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.301G>A|p.Asp101Asn|414/1985|301/1479|101/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.148G>A|p.Asp50Asn|337/594|148/405|50/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.270G>A|p.Ala90Ala|271/553|270/552|90/183||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.393G>A|p.Ala131Ala|395/491|393/489|131/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3519|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1091|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3539|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3554|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1783|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.633G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.480G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.264G>A||||||
22	18912612	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.619A>C|p.Lys207Gln|885/2462|619/1803|207/600||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.295A>C|p.Lys99Gln|456/2034|295/1479|99/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.295A>C|p.Lys99Gln|408/1985|295/1479|99/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.142A>C|p.Lys48Gln|331/594|142/405|48/134||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.264A>C|p.Pro88Pro|265/553|264/552|88/183||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.387A>C|p.Pro129Pro|389/491|387/489|129/162||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1A>C|||||3525|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1A>C|||||1097|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1A>C|||||3545|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1A>C|||||3560|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1A>C|||||1789|,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.627A>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.474A>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.258A>C||||||
22	18912620	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.611A>G|p.Asn204Ser|877/2462|611/1803|204/600||,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.287A>G|p.Asn96Ser|448/2034|287/1479|96/492||,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.287A>G|p.Asn96Ser|400/1985|287/1479|96/492||,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.256A>G|p.Met86Val|257/553|256/552|86/183||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.134A>G|p.Asn45Ser|323/594|134/405|45/134||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.379A>G|p.Met127Val|381/491|379/489|127/162||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1A>G|||||3533|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1A>G|||||1105|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1A>G|||||3553|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1A>G|||||3568|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1A>G|||||1797|,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.619A>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.466A>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.250A>G||||||
22	18912625	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.251C>T|p.Thr84Met|252/553|251/552|84/183||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.374C>T|p.Thr125Met|376/491|374/489|125/162||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.606C>T|p.Tyr202Tyr|872/2462|606/1803|202/600||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.282C>T|p.Tyr94Tyr|443/2034|282/1479|94/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.282C>T|p.Tyr94Tyr|395/1985|282/1479|94/492||,A|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.129C>T|p.Tyr43Tyr|318/594|129/405|43/134||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1C>T|||||3538|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1C>T|||||1110|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1C>T|||||3558|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1C>T|||||3573|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1C>T|||||1802|,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.614C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.461C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.245C>T||||||
22	18912653	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.578G>A|p.Gly193Asp|844/2462|578/1803|193/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.254G>A|p.Gly85Asp|415/2034|254/1479|85/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.254G>A|p.Gly85Asp|367/1985|254/1479|85/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.223G>A|p.Val75Met|224/553|223/552|75/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.101G>A|p.Gly34Asp|290/594|101/405|34/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.346G>A|p.Val116Met|348/491|346/489|116/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3566|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1138|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3586|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3601|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1830|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.586G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.433G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.217G>A||||||
22	18912662	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.569G>A|p.Arg190His|835/2462|569/1803|190/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.245G>A|p.Arg82His|406/2034|245/1479|82/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.245G>A|p.Arg82His|358/1985|245/1479|82/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.214G>A|p.Ala72Thr|215/553|214/552|72/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.92G>A|p.Arg31His|281/594|92/405|31/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.337G>A|p.Ala113Thr|339/491|337/489|113/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1G>A|||||3575|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1G>A|||||1147|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1G>A|||||3595|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1G>A|||||3610|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1G>A|||||1839|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.577G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.424G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.208G>A||||||
22	18912678	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|4/14|c.553T>C|p.Trp185Arg|819/2462|553/1803|185/600||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|4/14|c.229T>C|p.Trp77Arg|390/2034|229/1479|77/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|4/14|c.229T>C|p.Trp77Arg|342/1985|229/1479|77/492||,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|4/7|c.76T>C|p.Trp26Arg|265/594|76/405|26/134||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|3/6|c.198T>C|p.Thr66Thr|199/553|198/552|66/183||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|3/4|c.321T>C|p.Thr107Thr|323/491|321/489|107/162||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1T>C|||||3591|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1T>C|||||1163|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1T>C|||||3611|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1T>C|||||3626|,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1T>C|||||1855|,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|4/13|n.561T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|4/11|n.408T>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|3/3|n.192T>C||||||
22	18913208	.	A	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|3/14|c.510T>A|p.Asp170Glu|776/2462|510/1803|170/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|3/14|c.186T>A|p.Asp62Glu|347/2034|186/1479|62/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|3/14|c.186T>A|p.Asp62Glu|299/1985|186/1479|62/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|2/6|c.155T>A|p.Met52Lys|156/553|155/552|52/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|3/7|c.33T>A|p.Asp11Glu|222/594|33/405|11/134||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|2/4|c.278T>A|p.Met93Lys|280/491|278/489|93/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000313755|retained_intron||n.-1T>A|||||4121|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000429300|retained_intron||n.-1T>A|||||1693|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000609229|retained_intron||n.-1T>A|||||4141|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000446371|retained_intron||n.-1T>A|||||4156|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000399694|retained_intron||n.-1T>A|||||2385|,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|3/13|n.518T>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|3/11|n.365T>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|2/3|n.149T>A||||||
22	18918593	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/14|c.392G>A|p.Arg131Gln|658/2462|392/1803|131/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/14|c.68G>A|p.Arg23Gln|229/2034|68/1479|23/492||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/14|c.68G>A|p.Arg23Gln|181/1985|68/1479|23/492||,T|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|2/7|c.-86G>A|||||86|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4935G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4935G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/13|n.400G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/11|n.247G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron|1/3|n.31G>A||||||
22	18918666	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|2/14|c.319A>G|p.Lys107Glu|585/2462|319/1803|107/600||,C|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|2/14|c.-6A>G|||||6|,C|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|2/14|c.-6A>G|||||6|,C|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1A>G|||||43|,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/5|c.127+4862A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding|1/6|c.-122-37A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/3|c.250+4862A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|2/13|n.327A>G||||||,C|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|2/11|n.174A>G||||||
22	18923585	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/6|c.70G>C|p.Glu24Gln|71/553|70/552|24/183||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.193G>C|p.Glu65Gln|195/491|193/489|65/162||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.216G>C|p.Arg72Arg|482/2462|216/1803|72/600||,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190G>C|||||1244|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000496625|retained_intron||n.-1G>C|||||4962|,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-35+98G>C||||||,G|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+318G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.224G>C||||||,G|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/11|n.71G>C||||||
22	18923629	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.172G>A|p.Ala58Thr|438/2462|172/1803|58/600||,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding|1/6|c.26G>A|p.Arg9His|27/553|26/552|9/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.149G>A|p.Arg50His|151/491|149/489|50/162||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190G>A|||||1288|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/13|c.-35+54G>A||||||,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+274G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.180G>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron|1/11|n.27G>A||||||
22	18923713	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.88C>T|p.Pro30Ser|354/2462|88/1803|30/600||,A|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.65C>T|p.Ala22Val|67/491|65/489|22/162||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/14|c.-65C>T|||||5053|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.-1C>T|||||58|,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.-2C>T|||||58|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190C>T|||||1372|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+190C>T||||||,A|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.96C>T||||||
22	18923745	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PRODH|ENSG00000100033|transcript|ENST00000357068|protein_coding|1/14|c.56C>A|p.Pro19Gln|322/2462|56/1803|19/600||,T|synonymous_variant|LOW|PRODH|ENSG00000100033|transcript|ENST00000457083|protein_coding|1/4|c.33C>A|p.Pro11Pro|35/491|33/489|11/162||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000420436|protein_coding|1/14|c.-97C>A|||||5085|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000482858|retained_intron||n.-1C>A|||||90|,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000438924|protein_coding||c.-2C>A|||||90|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000450579|protein_coding||c.-190C>A|||||1404|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000334029|protein_coding|1/13|c.-52+158C>A||||||,T|non_coding_exon_variant|MODIFIER|PRODH|ENSG00000100033|transcript|ENST00000491604|retained_intron|1/13|n.64C>A||||||
22	19026413	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1618C>T|p.Arg540Cys|1866/4480|1618/1653|540/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1495C>T|p.Arg499Cys|1743/4361|1495/1530|499/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1618C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1618C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1618C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1495C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1495C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1495C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1189C>T|||||21862|,A|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1C>T|||||4336|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.946C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1396C>T||||||
22	19026556	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1475G>A|p.Arg492His|1723/4480|1475/1653|492/550||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1352G>A|p.Arg451His|1600/4361|1352/1530|451/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1475G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1475G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1475G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1352G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1352G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1352G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1046G>A|||||21719|,T|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1G>A|||||4479|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.803G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1253G>A||||||
22	19026559	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1472G>C|p.Arg491Pro|1720/4480|1472/1653|491/550||,G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1349G>C|p.Arg450Pro|1597/4361|1349/1530|450/509||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1472G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1472G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1472G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1349G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1349G>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1349G>C||||||,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*1043G>C|||||21716|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1G>C|||||4482|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.800G>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1250G>C||||||
22	19026613	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|10/10|c.1418T>C|p.Val473Ala|1666/4480|1418/1653|473/550||,G|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|9/9|c.1295T>C|p.Val432Ala|1543/4361|1295/1530|432/509||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1418T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1418T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1418T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1295T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1295T>C||||||,G|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1295T>C||||||,G|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|11/11|c.*989T>C|||||21662|,G|upstream_gene_variant|MODIFIER|CA15P1|ENSG00000241527|transcript|ENST00000481698|unitary_pseudogene||n.-1T>C|||||4536|,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|11/11|n.746T>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|4/4|n.1196T>C||||||
22	19028643	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1324G>A|p.Gly442Ser|1572/4480|1324/1653|442/550||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1201G>A|p.Gly401Ser|1449/4361|1201/1530|401/509||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1324G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1324G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1324G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1201G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1201G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1201G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*895G>A|||||19632|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1C>T|||||4126|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.652G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.1102G>A||||||
22	19028694	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|9/10|c.1273C>G|p.His425Asp|1521/4480|1273/1653|425/550||,C|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|8/9|c.1150C>G|p.His384Asp|1398/4361|1150/1530|384/509||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1273C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1273C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1273C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1150C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1150C>G||||||,C|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1150C>G||||||,C|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|10/11|c.*844C>G|||||19581|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>C|||||4075|,C|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>G|||||4981|,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|10/11|n.601C>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.1051C>G||||||
22	19029353	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/10|c.1126C>T|p.Arg376Trp|1374/4480|1126/1653|376/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/9|c.1003C>T|p.Arg335Trp|1251/4361|1003/1530|335/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1126C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1126C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1126C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.1003C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.1003C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.1003C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/11|c.*697C>T|||||18922|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3416|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4322|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/11|n.454C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.392C>T||||||
22	19029359	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/10|c.1120C>T|p.Arg374Trp|1368/4480|1120/1653|374/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/9|c.997C>T|p.Arg333Trp|1245/4361|997/1530|333/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1120C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1120C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1120C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.997C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.997C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.997C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/11|c.*691C>T|||||18916|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3410|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4316|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/11|n.448C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.386C>T||||||
22	19029365	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|8/10|c.1114C>T|p.Arg372Cys|1362/4480|1114/1653|372/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|7/9|c.991C>T|p.Arg331Cys|1239/4361|991/1530|331/509||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|10/10|c.1114C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|8/10|c.1114C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000263196|protein_coding|9/10|c.1114C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|7/9|c.991C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|9/9|c.991C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Cytoplasmic|ENST00000537045|protein_coding|8/9|c.991C>T||||||,A|3_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|9/11|c.*685C>T|||||18910|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206739|transcript|ENST00000384012|misc_RNA||n.-1G>A|||||3404|,A|downstream_gene_variant|MODIFIER|DGCR11|ENSG00000273311|transcript|ENST00000609958|sense_intronic||n.*2214C>T|||||4310|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|9/11|n.442C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000467659|retained_intron|3/4|n.380C>T||||||
22	19050750	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|5/10|c.590G>A|p.Arg197His|838/4480|590/1653|197/550||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|4/9|c.467G>A|p.Arg156His|715/4361|467/1530|156/509||,T|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|5/11|c.581G>A|p.Arg194His|782/4812|581/810|194/269||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.590G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.467G>A||||||,T|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.467G>A||||||,T|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|5/11|n.-473G>A|||||6122|,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|5/11|n.-473G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript|1/3|n.41G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|3/4|n.402G>A||||||
22	19052424	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|4/10|c.485G>T|p.Arg162Leu|733/4480|485/1653|162/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|3/9|c.362G>T|p.Arg121Leu|610/4361|362/1530|121/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|4/11|c.476G>T|p.Arg159Leu|677/4812|476/810|159/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|4/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|5/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000263196|protein_coding|6/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|4/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|5/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000263196|protein_coding|6/10|c.485G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|3/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|4/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|disulfide_bond|ENST00000537045|protein_coding|5/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|3/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|4/9|c.362G>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|domain:C-type_lectin|ENST00000537045|protein_coding|5/9|c.362G>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-578G>T|||||7796|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1G>T|||||1634|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|4/11|n.-578G>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript|2/4|n.297G>T||||||
22	19055622	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.319C>T|p.Arg107Cys|567/4480|319/1653|107/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.196C>T|p.Arg66Cys|444/4361|196/1530|66/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.319C>T|p.Arg107Cys|520/4812|319/810|107/269||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-735C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.319C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.319C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-735C>T|||||10994|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4832|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2205|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-735C>T||||||
22	19055679	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.262C>T|p.Arg88Trp|510/4480|262/1653|88/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.139C>T|p.Arg47Trp|387/4361|139/1530|47/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.262C>T|p.Arg88Trp|463/4812|262/810|88/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.262C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.262C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-792C>T|||||11051|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4889|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2262|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-792C>T||||||
22	19055688	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000263196|protein_coding|3/10|c.253C>T|p.Arg85Trp|501/4480|253/1653|85/550||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000537045|protein_coding|2/9|c.130C>T|p.Arg44Trp|378/4361|130/1530|44/509||,A|missense_variant|MODERATE|DGCR2|ENSG00000070413|transcript|ENST00000545799|protein_coding|3/11|c.253C>T|p.Arg85Trp|454/4812|253/810|85/269||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|7/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|3/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|1/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|4/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|5/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|8/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|2/10|c.253C>T||||||,A|sequence_feature|LOW|DGCR2|ENSG00000070413|topological_domain:Extracellular|ENST00000263196|protein_coding|6/10|c.253C>T||||||,A|5_prime_UTR_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-801C>T|||||11060|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000608548|processed_transcript||n.-1C>T|||||4898|,A|upstream_gene_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000473832|processed_transcript||n.-1C>T|||||2271|,A|non_coding_exon_variant|MODIFIER|DGCR2|ENSG00000070413|transcript|ENST00000389262|nonsense_mediated_decay|3/11|n.-801C>T||||||
22	19118973	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.61G>A|p.Gly21Ser|653/1814|61/1077|21/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.61G>A||||||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|nucleotide_phosphate-binding_region:ATP|ENST00000399635|protein_coding|1/1|c.61G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2736C>T|||||2736|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3011|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2477|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2508|
22	19118992	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.80A>G|p.Lys27Arg|672/1814|80/1077|27/358||,G|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.80A>G||||||,G|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2717T>C|||||2717|,G|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>C|||||3030|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>C|||||2458|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>C|||||2489|
22	19119162	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.250G>A|p.Gly84Arg|842/1814|250/1077|84/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.250G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2547C>T|||||2547|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3200|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2288|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2319|
22	19119252	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.340C>T|p.Arg114Cys|932/1814|340/1077|114/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.340C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2457G>A|||||2457|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3290|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||2198|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||2229|
22	19119265	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.353G>A|p.Arg118Gln|945/1814|353/1077|118/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.353G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2444C>T|||||2444|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3303|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||2185|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||2216|
22	19119490	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.578A>C|p.Gln193Pro|1170/1814|578/1077|193/358||,C|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.578A>C||||||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2219T>G|||||2219|,C|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>G|||||3528|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>G|||||1960|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>G|||||1991|
22	19119502	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.590A>G|p.Tyr197Cys|1182/1814|590/1077|197/358||,G|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.590A>G||||||,G|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2207T>C|||||2207|,G|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>C|||||3540|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>C|||||1948|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>C|||||1979|
22	19119522	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.610G>A|p.Val204Met|1202/1814|610/1077|204/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.610G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2187C>T|||||2187|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3560|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1928|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1959|
22	19119549	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.637T>C|p.Ser213Pro|1229/1814|637/1077|213/358||,C|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.637T>C||||||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2160A>G|||||2160|,C|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1A>G|||||3587|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926A>G|||||1901|,C|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101A>G|||||1932|
22	19119580	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.668A>G|p.Lys223Arg|1260/1814|668/1077|223/358||,G|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.668A>G||||||,G|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2129T>C|||||2129|,G|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1T>C|||||3618|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926T>C|||||1870|,G|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101T>C|||||1901|
22	19119589	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.677G>A|p.Arg226His|1269/1814|677/1077|226/358||,A|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.677G>A||||||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*2120C>T|||||2120|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3627|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1861|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1892|
22	19119721	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.809C>T|p.Ser270Leu|1401/1814|809/1077|270/358||,T|sequence_feature|LOW|TSSK2|ENSG00000206203|domain:Protein_kinase|ENST00000399635|protein_coding|1/1|c.809C>T||||||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1988G>A|||||1988|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3759|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1729|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1760|
22	19119751	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.839C>T|p.Thr280Met|1431/1814|839/1077|280/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1958G>A|||||1958|,T|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1G>A|||||3789|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926G>A|||||1699|,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101G>A|||||1730|
22	19119960	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding|1/1|c.1048G>A|p.Gly350Arg|1640/1814|1048/1077|350/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.*1749C>T|||||1749|,A|upstream_gene_variant|MODIFIER|AC004471.10|ENSG00000272682|transcript|ENST00000609936|lincRNA||n.-1C>T|||||3998|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.*926C>T|||||1490|,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.*2101C>T|||||1521|
22	19121722	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.1418C>G|p.Ser473Trp|1462/5392|1418/1431|473/476||,C|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*610C>G|||||4211|,C|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>C|||||1588|,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*610C>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|10/10|n.1860C>G||||||
22	19121872	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|10/10|c.1268C>T|p.Ala423Val|1312/5392|1268/1431|423/476||,A|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*460C>T|||||4061|,A|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669G>A|||||1738|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|10/10|n.*460C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|10/10|n.1710C>T||||||
22	19124865	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|8/10|c.1006G>A|p.Val336Met|1050/5392|1006/1431|336/476||,T|3_prime_UTR_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*198G>A|||||1068|,T|downstream_gene_variant|MODIFIER|TSSK2|ENSG00000206203|transcript|ENST00000399635|protein_coding||c.*1669C>T|||||4731|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|8/10|n.*198G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|8/10|n.1448G>A||||||
22	19125772	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|7/10|c.881G>A|p.Arg294Gln|925/5392|881/1431|294/476||,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||4591|,T|intron_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|7/9|n.*117+44G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|7/10|n.1323G>A||||||
22	19126794	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|6/10|c.700G>A|p.Glu234Lys|744/5392|700/1431|234/476||,T|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581G>A|||||3569|,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|6/10|n.700G>A||||||,T|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|6/10|n.1142G>A||||||
22	19127222	.	T	A	.	.	ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|5/10|c.591A>T|p.Glu197Asp|635/5392|591/1431|197/476||,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581A>T|||||3141|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|5/10|n.591A>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|5/10|n.1033A>T||||||
22	19130247	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|2/10|c.296C>T|p.Pro99Leu|340/5392|296/1431|99/476||,A|downstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.*581C>T|||||116|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|2/10|n.296C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|2/10|n.738C>T||||||
22	19132062	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.92C>T|p.Ala31Val|136/5392|92/1431|31/476||,A|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618C>T|||||4027|,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.92C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/10|n.85C>T||||||,A|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.111C>T||||||
22	19132135	.	A	C	.	.	ANN=C|missense_variant|MODERATE|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding|1/10|c.19T>G|p.Ser7Ala|63/5392|19/1431|7/476||,C|downstream_gene_variant|MODIFIER|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding||c.*618T>G|||||3954|,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay|1/10|n.19T>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron|1/10|n.12T>G||||||,C|non_coding_exon_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron|1/2|n.38T>G||||||
22	19136508	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|3/3|c.614G>C|p.Cys205Ser|614/1033|614/618|205/205||,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45G>C|||||4311|,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45G>C|||||4311|,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1G>C|||||4362|,G|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1G>C|||||4336|
22	19136565	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GSC2|ENSG00000063515|transcript|ENST00000086933|protein_coding|3/3|c.557G>A|p.Arg186His|557/1033|557/618|186/205||,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000252137|protein_coding||c.-45G>A|||||4368|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000434568|nonsense_mediated_decay||n.-45G>A|||||4368|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000472073|retained_intron||n.-1G>A|||||4419|,T|upstream_gene_variant|MODIFIER|DGCR14|ENSG00000100056|transcript|ENST00000469466|retained_intron||n.-1G>A|||||4393|
22	19163941	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|8/9|c.814C>A|p.Leu272Ile|971/1641|814/936|272/311||,T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|8/9|c.505C>A|p.Leu169Ile|855/1514|505/627|169/208||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.814C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.814C>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.814C>A||||||,T|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445G>T|||||3589|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996C>A|||||3045|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804C>A|||||239|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307C>A|||||1562|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796C>A|||||3045|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635C>A|||||3048|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714C>A|||||3048|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998C>A|||||3048|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695C>A|||||3347|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994C>A|||||4305|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803C>A|||||4305|,T|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|7/8|n.956C>A||||||
22	19163968	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|8/9|c.787G>A|p.Gly263Ser|944/1641|787/936|263/311||,T|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|8/9|c.478G>A|p.Gly160Ser|828/1514|478/627|160/208||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.787G>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.787G>A||||||,T|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.787G>A||||||,T|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445C>T|||||3616|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996G>A|||||3018|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804G>A|||||212|,T|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307G>A|||||1535|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796G>A|||||3018|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635G>A|||||3021|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714G>A|||||3021|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998G>A|||||3021|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695G>A|||||3320|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994G>A|||||4278|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803G>A|||||4278|,T|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|7/8|n.929G>A||||||
22	19164152	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|7/9|c.686T>C|p.Ile229Thr|843/1641|686/936|229/311||,G|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|7/9|c.377T>C|p.Ile126Thr|727/1514|377/627|126/208||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|9/9|c.686T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|7/9|c.686T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_3|ENST00000215882|protein_coding|8/9|c.686T>C||||||,G|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|7/9|c.686T>C||||||,G|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445A>G|||||3800|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996T>C|||||2834|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.*804T>C|||||28|,G|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307T>C|||||1351|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796T>C|||||2834|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635T>C|||||2837|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714T>C|||||2837|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998T>C|||||2837|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695T>C|||||3136|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994T>C|||||4094|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803T>C|||||4094|,G|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|6/8|n.828T>C||||||
22	19164401	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding|6/9|c.589A>G|p.Ile197Val|746/1641|589/936|197/311||,C|missense_variant|MODERATE|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding|6/9|c.280A>G|p.Ile94Val|630/1514|280/627|94/208||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|6/9|c.589A>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|5/9|c.589A>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|repeat:Solcar_2|ENST00000215882|protein_coding|4/9|c.589A>G||||||,C|sequence_feature|LOW|SLC25A1|ENSG00000100075|transmembrane_region:Transmembrane_region|ENST00000215882|protein_coding|6/9|c.589A>G||||||,C|downstream_gene_variant|MODIFIER|AC004463.6|ENSG00000260924|transcript|ENST00000565162|antisense||n.*1445T>C|||||4049|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding||c.*4996A>G|||||2585|,C|downstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.*307A>G|||||1102|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding||c.*4796A>G|||||2585|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.*4635A>G|||||2588|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.*1714A>G|||||2588|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding||c.*4998A>G|||||2588|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.*1695A>G|||||2887|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron||n.*4994A>G|||||3845|,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay||n.*3803A>G|||||3845|,C|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron|5/8|n.731A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript|5/6|n.735A>G||||||
22	19168288	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|31/33|c.4859G>A|p.Arg1620His|4932/5513|4859/4923|1620/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|30/32|c.4688G>A|p.Arg1563His|4732/5313|4688/4752|1563/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|32/34|c.4859G>A|p.Arg1620His|4934/5512|4859/4923|1620/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4688G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4688G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4688G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4859G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4859G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1014G>A|||||18985|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||1945|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||2254|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||2036|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||2295|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||2140|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||2701|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.4057G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|8/10|n.1136G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|10/12|n.1416G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|30/30|n.4952G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1014G>A||||||
22	19168289	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|31/33|c.4858C>T|p.Arg1620Cys|4931/5513|4858/4923|1620/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|30/32|c.4687C>T|p.Arg1563Cys|4731/5313|4687/4752|1563/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|32/34|c.4858C>T|p.Arg1620Cys|4933/5512|4858/4923|1620/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4687C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4687C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4687C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4858C>T||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1013C>T|||||18984|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158C>T|||||1946|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351C>T|||||2255|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1C>T|||||2037|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1C>T|||||2296|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1C>T|||||2141|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204C>T|||||2700|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.4056C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|8/10|n.1135C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|10/12|n.1415C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|30/30|n.4951C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|31/31|n.*1013C>T||||||
22	19170956	.	C	A,G,T	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4774G>T|p.Val1592Leu|4847/5513|4774/4923|1592/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4774G>C|p.Val1592Leu|4847/5513|4774/4923|1592/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4774G>A|p.Val1592Met|4847/5513|4774/4923|1592/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4603G>T|p.Val1535Leu|4647/5313|4603/4752|1535/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4603G>C|p.Val1535Leu|4647/5313|4603/4752|1535/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4603G>A|p.Val1535Met|4647/5313|4603/4752|1535/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4774G>T|p.Val1592Leu|4849/5512|4774/4923|1592/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4774G>C|p.Val1592Leu|4849/5512|4774/4923|1592/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4774G>A|p.Val1592Met|4849/5512|4774/4923|1592/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4603G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4603G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4603G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4603G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4603G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4603G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4603G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4603G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4603G>A||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4774G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4774G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4774G>A||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4774G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4774G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4774G>A||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4774G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4774G>T||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4774G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4774G>C||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4774G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4774G>A||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>T|||||16317|,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>C|||||16317|,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>A|||||16317|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>T|||||4613|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>C|||||4613|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>A|||||4613|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>T|||||4922|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>C|||||4922|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000451283|protein_coding||c.-351G>A|||||4922|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>T|||||4704|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>C|||||4704|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>A|||||4704|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>T|||||4963|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>C|||||4963|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000461267|processed_transcript||n.-1G>A|||||4963|,A|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>T|||||4808|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>C|||||4808|,T|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>A|||||4808|,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>T|||||33|,G|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>C|||||33|,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.*204G>A|||||33|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1389G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1389G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1389G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.1051G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.1051G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.1051G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1331G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1331G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1331G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4867G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4867G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4867G>A||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>T||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>C||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*929G>A||||||
22	19171053	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|30/33|c.4677G>C|p.Glu1559Asp|4750/5513|4677/4923|1559/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|29/32|c.4506G>C|p.Glu1502Asp|4550/5313|4506/4752|1502/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|31/34|c.4677G>C|p.Glu1559Asp|4752/5512|4677/4923|1559/1640||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|30/32|c.4506G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|29/32|c.4506G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000353891|protein_coding|31/32|c.4506G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|32/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Trimerization|ENST00000427926|protein_coding|33/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4677G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4677G>C||||||,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*832G>C|||||16220|,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*180G>C|||||964|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000215882|protein_coding||c.-158G>C|||||4710|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000470922|retained_intron||n.-1G>C|||||4801|,G|upstream_gene_variant|MODIFIER|SLC25A1|ENSG00000100075|transcript|ENST00000468824|processed_transcript||n.-1G>C|||||4905|,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron|1/3|n.1292G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|7/10|n.954G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|9/12|n.1234G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|29/30|n.4770G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|30/31|n.*832G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|3/3|n.*180G>C||||||
22	19175095	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|29/33|c.4580T>G|p.Leu1527Arg|4653/5513|4580/4923|1527/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|30/34|c.4580T>G|p.Leu1527Arg|4655/5512|4580/4923|1527/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4580T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4580T>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|29/31|n.*735T>G|||||12178|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000412649|retained_intron||n.-1T>G|||||2751|,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|28/31|c.4434+398T>G||||||,C|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/9|n.882+3721T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|8/12|n.1137T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|28/30|n.4673T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|29/31|n.*735T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay|1/3|n.146T>G||||||
22	19178854	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|27/33|c.4285C>T|p.Arg1429Trp|4358/5513|4285/4923|1429/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|27/32|c.4285C>T|p.Arg1429Trp|4329/5313|4285/4752|1429/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|28/34|c.4285C>T|p.Arg1429Trp|4360/5512|4285/4923|1429/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|31/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_7|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4285C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4285C>T||||||,A|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|27/31|n.*440C>T|||||8419|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000538828|nonsense_mediated_decay||n.-1C>T|||||3614|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|6/10|n.844C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|6/12|n.842C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|26/30|n.4378C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|27/31|n.*440C>T||||||
22	19183787	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|26/33|c.4181T>C|p.Ile1394Thr|4254/5513|4181/4923|1394/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|26/32|c.4181T>C|p.Ile1394Thr|4225/5313|4181/4752|1394/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|27/34|c.4181T>C|p.Ile1394Thr|4256/5512|4181/4923|1394/1640||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4181T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4181T>C||||||,G|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*336T>C|||||3486|,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|5/10|n.740T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|5/12|n.738T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.4274T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*336T>C||||||
22	19183884	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|26/33|c.4084G>A|p.Val1362Met|4157/5513|4084/4923|1362/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|26/32|c.4084G>A|p.Val1362Met|4128/5313|4084/4752|1362/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|27/34|c.4084G>A|p.Val1362Met|4159/5512|4084/4923|1362/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.4084G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.4084G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*239G>A|||||3389|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|5/10|n.643G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|5/12|n.641G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.4177G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|26/31|n.*239G>A||||||
22	19184095	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/33|c.3946A>G|p.Met1316Val|4019/5513|3946/4923|1316/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/32|c.3946A>G|p.Met1316Val|3990/5313|3946/4752|1316/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/34|c.3946A>G|p.Met1316Val|4021/5512|3946/4923|1316/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.3946A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.3946A>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*101A>G|||||3178|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/10|n.505A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/12|n.503A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.3966A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*101A>G||||||
22	19184146	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|25/33|c.3895C>G|p.Leu1299Val|3968/5513|3895/4923|1299/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|25/32|c.3895C>G|p.Leu1299Val|3939/5313|3895/4752|1299/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|26/34|c.3895C>G|p.Leu1299Val|3970/5512|3895/4923|1299/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|27/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|25/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|24/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000353891|protein_coding|26/32|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|29/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|30/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|24/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Involved_in_binding_clathrin_light_chain|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|28/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|26/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|25/34|c.3895C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_6|ENST00000427926|protein_coding|27/34|c.3895C>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*50C>G|||||3127|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|4/10|n.454C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|4/12|n.452C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|25/30|n.3915C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|25/31|n.*50C>G||||||
22	19188971	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|23/33|c.3634G>A|p.Glu1212Lys|3707/5513|3634/4923|1212/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|23/32|c.3634G>A|p.Glu1212Lys|3678/5313|3634/4752|1212/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|24/34|c.3634G>A|p.Glu1212Lys|3709/5512|3634/4923|1212/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3634G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3634G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript|2/10|n.193G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript|2/12|n.191G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|23/30|n.3654G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|23/31|n.3634G>A||||||
22	19195680	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|22/33|c.3584A>G|p.Asn1195Ser|3657/5513|3584/4923|1195/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|22/32|c.3584A>G|p.Asn1195Ser|3628/5313|3584/4752|1195/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|22/34|c.3584A>G|p.Asn1195Ser|3659/5512|3584/4923|1195/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3584A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3584A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||494|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||496|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|22/30|n.3604A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|22/31|n.3584A>G||||||
22	19195771	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|22/33|c.3493C>T|p.Arg1165Cys|3566/5513|3493/4923|1165/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|22/32|c.3493C>T|p.Arg1165Cys|3537/5313|3493/4752|1165/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|22/34|c.3493C>T|p.Arg1165Cys|3568/5512|3493/4923|1165/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3493C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3493C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1C>T|||||585|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1C>T|||||587|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|22/30|n.3513C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|22/31|n.3493C>T||||||
22	19196449	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3425A>G|p.Gln1142Arg|3498/5513|3425/4923|1142/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3425A>G|p.Gln1142Arg|3469/5313|3425/4752|1142/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3425A>G|p.Gln1142Arg|3500/5512|3425/4923|1142/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3425A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3425A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||1263|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||1265|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3445A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3425A>G||||||
22	19196491	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3383A>G|p.Tyr1128Cys|3456/5513|3383/4923|1128/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3383A>G|p.Tyr1128Cys|3427/5313|3383/4752|1128/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3383A>G|p.Tyr1128Cys|3458/5512|3383/4923|1128/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|22/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|21/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|23/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|24/34|c.3383A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_5|ENST00000427926|protein_coding|25/34|c.3383A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>G|||||1305|,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>G|||||1307|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3403A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3383A>G||||||
22	19196615	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|21/33|c.3259G>A|p.Glu1087Lys|3332/5513|3259/4923|1087/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|21/32|c.3259G>A|p.Glu1087Lys|3303/5313|3259/4752|1087/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|21/34|c.3259G>A|p.Glu1087Lys|3334/5512|3259/4923|1087/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3259G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3259G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1G>A|||||1429|,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1G>A|||||1431|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|21/30|n.3279G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|21/31|n.3259G>A||||||
22	19197948	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3137G>A|p.Arg1046His|3210/5513|3137/4923|1046/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3137G>A|p.Arg1046His|3181/5313|3137/4752|1046/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3137G>A|p.Arg1046His|3212/5512|3137/4923|1046/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3137G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3137G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1G>A|||||2762|,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1G>A|||||2764|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3157G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3137G>A||||||
22	19197949	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3136C>T|p.Arg1046Cys|3209/5513|3136/4923|1046/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3136C>T|p.Arg1046Cys|3180/5313|3136/4752|1046/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3136C>T|p.Arg1046Cys|3211/5512|3136/4923|1046/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3136C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3136C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1C>T|||||2763|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1C>T|||||2765|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3156C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3136C>T||||||
22	19197988	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|20/33|c.3097A>T|p.Ile1033Phe|3170/5513|3097/4923|1033/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|20/32|c.3097A>T|p.Ile1033Phe|3141/5313|3097/4752|1033/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|20/34|c.3097A>T|p.Ile1033Phe|3172/5512|3097/4923|1033/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3097A>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3097A>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000442042|processed_transcript||n.-1A>T|||||2802|,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000536806|processed_transcript||n.-1A>T|||||2804|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|20/30|n.3117A>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|20/31|n.3097A>T||||||
22	19203625	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/33|c.3061C>T|p.His1021Tyr|3134/5513|3061/4923|1021/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/32|c.3061C>T|p.His1021Tyr|3105/5313|3061/4752|1021/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/34|c.3061C>T|p.His1021Tyr|3136/5512|3061/4923|1021/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3061C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3061C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/30|n.3081C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/31|n.3061C>T||||||
22	19203682	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|19/33|c.3004A>G|p.Asn1002Asp|3077/5513|3004/4923|1002/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|19/32|c.3004A>G|p.Asn1002Asp|3048/5313|3004/4752|1002/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|19/34|c.3004A>G|p.Asn1002Asp|3079/5512|3004/4923|1002/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|21/32|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|20/32|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000353891|protein_coding|19/32|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|21/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|20/34|c.3004A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_4|ENST00000427926|protein_coding|19/34|c.3004A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|19/30|n.3024A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|19/31|n.3004A>G||||||
22	19207411	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2902A>G|p.Arg968Gly|2975/5513|2902/4923|968/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2902A>G|p.Arg968Gly|2946/5313|2902/4752|968/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2902A>G|p.Arg968Gly|2977/5512|2902/4923|968/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2902A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2902A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132A>G|||||1685|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2922A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2902A>G||||||
22	19207455	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2858C>T|p.Pro953Leu|2931/5513|2858/4923|953/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2858C>T|p.Pro953Leu|2902/5313|2858/4752|953/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2858C>T|p.Pro953Leu|2933/5512|2858/4923|953/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2858C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2858C>T||||||,A|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132C>T|||||1641|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2878C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2858C>T||||||
22	19207479	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2834G>A|p.Arg945His|2907/5513|2834/4923|945/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2834G>A|p.Arg945His|2878/5313|2834/4752|945/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2834G>A|p.Arg945His|2909/5512|2834/4923|945/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2834G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2834G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132G>A|||||1617|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2854G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2834G>A||||||
22	19207491	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|18/33|c.2822A>G|p.Lys941Arg|2895/5513|2822/4923|941/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|18/32|c.2822A>G|p.Lys941Arg|2866/5313|2822/4752|941/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|18/34|c.2822A>G|p.Lys941Arg|2897/5512|2822/4923|941/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2822A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2822A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132A>G|||||1605|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|18/30|n.2842A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|18/31|n.2822A>G||||||
22	19209073	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|17/33|c.2623A>G|p.Thr875Ala|2696/5513|2623/4923|875/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|17/32|c.2623A>G|p.Thr875Ala|2667/5313|2623/4752|875/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|17/34|c.2623A>G|p.Thr875Ala|2698/5512|2623/4923|875/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|16/32|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|17/32|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000353891|protein_coding|18/32|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|16/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|17/34|c.2623A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_3|ENST00000427926|protein_coding|18/34|c.2623A>G||||||,C|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.*132A>G|||||23|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|17/30|n.2643A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|17/31|n.2623A>G||||||
22	19209603	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|16/33|c.2432G>A|p.Arg811Gln|2505/5513|2432/4923|811/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|16/32|c.2432G>A|p.Arg811Gln|2476/5313|2432/4752|811/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|16/34|c.2432G>A|p.Arg811Gln|2507/5512|2432/4923|811/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2432G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2432G>A||||||,T|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|4/5|n.*274G>A|||||1945|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|16/30|n.2452G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|16/31|n.2432G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|4/5|n.*274G>A||||||
22	19211535	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|14/33|c.2171A>G|p.Asp724Gly|2244/5513|2171/4923|724/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|14/32|c.2171A>G|p.Asp724Gly|2215/5313|2171/4752|724/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|14/34|c.2171A>G|p.Asp724Gly|2246/5512|2171/4923|724/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2171A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2171A>G||||||,C|3_prime_UTR_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|2/5|n.*13A>G|||||13|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|14/30|n.2191A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|14/31|n.2171A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|2/5|n.*13A>G||||||
22	19212999	.	A	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/33|c.2105T>A|p.Phe702Tyr|2178/5513|2105/4923|702/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/32|c.2105T>A|p.Phe702Tyr|2149/5313|2105/4752|702/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/34|c.2105T>A|p.Phe702Tyr|2180/5512|2105/4923|702/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2105T>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2105T>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477T>A|||||4369|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+743T>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/30|n.2125T>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/31|n.2105T>A||||||
22	19213033	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|13/33|c.2071G>A|p.Glu691Lys|2144/5513|2071/4923|691/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|13/32|c.2071G>A|p.Glu691Lys|2115/5313|2071/4752|691/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|13/34|c.2071G>A|p.Glu691Lys|2146/5512|2071/4923|691/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|14/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|15/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|13/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000353891|protein_coding|16/32|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|14/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|29/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|32/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|31/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|12/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|30/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|22/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|21/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|15/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|33/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|28/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|13/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|20/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|23/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|26/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|24/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|16/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|17/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|25/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|18/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|27/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Proximal_segment|ENST00000427926|protein_coding|19/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|14/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|15/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|13/34|c.2071G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_2|ENST00000427926|protein_coding|16/34|c.2071G>A||||||,T|downstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.*477G>A|||||4335|,T|intron_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay|1/4|n.102+709G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|13/30|n.2091G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|13/31|n.2071G>A||||||
22	19217422	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|11/33|c.1721G>A|p.Arg574His|1794/5513|1721/4923|574/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|11/32|c.1721G>A|p.Arg574His|1765/5313|1721/4752|574/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|11/34|c.1721G>A|p.Arg574His|1796/5512|1721/4923|574/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|10/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|12/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|13/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000353891|protein_coding|11/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|10/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|12/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000353891|protein_coding|11/32|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|14/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|29/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|32/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|31/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|10/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|12/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|30/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|22/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|21/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|15/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|33/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|28/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|13/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|20/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|23/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|11/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|26/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|24/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|16/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|17/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|25/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|18/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|27/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Heavy_chain_arm|ENST00000427926|protein_coding|19/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|10/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|12/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|13/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|repeat:CHCR_1|ENST00000427926|protein_coding|11/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|10/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|12/34|c.1721G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Distal_segment|ENST00000427926|protein_coding|11/34|c.1721G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000458188|nonsense_mediated_decay||n.-1G>A|||||3579|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|11/30|n.1741G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|11/31|n.1721G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron|2/2|n.423G>A||||||
22	19220768	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|9/33|c.1442G>A|p.Arg481Gln|1515/5513|1442/4923|481/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|9/32|c.1442G>A|p.Arg481Gln|1486/5313|1442/4752|481/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|9/34|c.1442G>A|p.Arg481Gln|1517/5512|1442/4923|481/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|9/32|c.1442G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000353891|protein_coding|10/32|c.1442G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|9/34|c.1442G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Flexible_linker|ENST00000427926|protein_coding|10/34|c.1442G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||424|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|9/30|n.1462G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|9/31|n.1442G>A||||||
22	19220775	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|9/33|c.1435T>G|p.Tyr479Asp|1508/5513|1435/4923|479/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|9/32|c.1435T>G|p.Tyr479Asp|1479/5313|1435/4752|479/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|9/34|c.1435T>G|p.Tyr479Asp|1510/5512|1435/4923|479/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1435T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1435T>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1T>G|||||431|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|9/30|n.1455T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|9/31|n.1435T>G||||||
22	19220971	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/33|c.1342C>A|p.Leu448Ile|1415/5513|1342/4923|448/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/32|c.1342C>A|p.Leu448Ile|1386/5313|1342/4752|448/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/34|c.1342C>A|p.Leu448Ile|1417/5512|1342/4923|448/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1342C>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1342C>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>A|||||627|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>A|||||4995|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/30|n.1362C>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/31|n.1342C>A||||||
22	19221123	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/33|c.1190C>T|p.Thr397Met|1263/5513|1190/4923|397/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/32|c.1190C>T|p.Thr397Met|1234/5313|1190/4752|397/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/34|c.1190C>T|p.Thr397Met|1265/5512|1190/4923|397/1640||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1190C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1190C>T||||||,A|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1C>T|||||779|,A|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297C>T|||||4843|,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/30|n.1210C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/31|n.1190C>T||||||
22	19221135	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|8/33|c.1178G>A|p.Arg393His|1251/5513|1178/4923|393/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|8/32|c.1178G>A|p.Arg393His|1222/5313|1178/4752|393/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|8/34|c.1178G>A|p.Arg393His|1253/5512|1178/4923|393/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1178G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1178G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||791|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>A|||||4831|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|8/30|n.1198G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|8/31|n.1178G>A||||||
22	19222138	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|7/33|c.1061G>A|p.Arg354His|1134/5513|1061/4923|354/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|7/32|c.1061G>A|p.Arg354His|1105/5313|1061/4752|354/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|7/34|c.1061G>A|p.Arg354His|1136/5512|1061/4923|354/1640||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.1061G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.1061G>A||||||,T|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>A|||||1794|,T|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>A|||||3828|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|7/30|n.1081G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|7/31|n.1061G>A||||||
22	19223229	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.959A>G|p.Lys320Arg|1032/5513|959/4923|320/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.959A>G|p.Lys320Arg|1003/5313|959/4752|320/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.959A>G|p.Lys320Arg|1034/5512|959/4923|320/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|7/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000353891|protein_coding|6/32|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|7/34|c.959A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_7|ENST00000427926|protein_coding|6/34|c.959A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1A>G|||||2885|,C|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297A>G|||||2737|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.979A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.959A>G||||||
22	19223332	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.856G>C|p.Asp286His|929/5513|856/4923|286/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.856G>C|p.Asp286His|900/5313|856/4752|286/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.856G>C|p.Asp286His|931/5512|856/4923|286/1640||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|5/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|6/32|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|5/34|c.856G>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|6/34|c.856G>C||||||,G|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1G>C|||||2988|,G|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297G>C|||||2634|,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.876G>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.856G>C||||||
22	19223352	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|6/33|c.836A>G|p.Tyr279Cys|909/5513|836/4923|279/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|6/32|c.836A>G|p.Tyr279Cys|880/5313|836/4752|279/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|6/34|c.836A>G|p.Tyr279Cys|911/5512|836/4923|279/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|5/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000353891|protein_coding|6/32|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|5/34|c.836A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_6|ENST00000427926|protein_coding|6/34|c.836A>G||||||,C|upstream_gene_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000540896|retained_intron||n.-1A>G|||||3008|,C|downstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.*297A>G|||||2614|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|6/30|n.856A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|6/31|n.836A>G||||||
22	19226874	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|5/33|c.719A>G|p.Asn240Ser|792/5513|719/4923|240/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|5/32|c.719A>G|p.Asn240Ser|763/5313|719/4752|240/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|5/34|c.719A>G|p.Asn240Ser|794/5512|719/4923|240/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|5/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|4/32|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|5/34|c.719A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|4/34|c.719A>G||||||,C|upstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.-1A>G|||||612|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|5/30|n.739A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|5/31|n.719A>G||||||
22	19230365	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|4/33|c.614A>G|p.Lys205Arg|687/5513|614/4923|205/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|4/32|c.614A>G|p.Lys205Arg|658/5313|614/4752|205/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|4/34|c.614A>G|p.Lys205Arg|689/5512|614/4923|205/1640||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|5/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000353891|protein_coding|4/32|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|5/34|c.614A>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_5|ENST00000427926|protein_coding|4/34|c.614A>G||||||,C|upstream_gene_variant|MODIFIER|AC000081.2|ENSG00000230194|transcript|ENST00000433141|processed_pseudogene||n.-1A>G|||||4103|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|4/30|n.634A>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|4/31|n.614A>G||||||
22	19241585	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.416T>G|p.Met139Arg|489/5513|416/4923|139/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.416T>G|p.Met139Arg|460/5313|416/4752|139/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.416T>G|p.Met139Arg|491/5512|416/4923|139/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|4/4|c.479T>G|p.Met160Arg|554/582|479/507|160/168||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000353891|protein_coding|3/32|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.416T>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000427926|protein_coding|3/34|c.416T>G||||||,C|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1A>C|||||3458|,C|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94A>C|||||4096|,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.436T>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.416T>G||||||
22	19241631	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.370G>A|p.Glu124Lys|443/5513|370/4923|124/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.370G>A|p.Glu124Lys|414/5313|370/4752|124/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.370G>A|p.Glu124Lys|445/5512|370/4923|124/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|4/4|c.433G>A|p.Glu145Lys|508/582|433/507|145/168||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000353891|protein_coding|3/32|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.370G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_3|ENST00000427926|protein_coding|3/34|c.370G>A||||||,T|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1C>T|||||3412|,T|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94C>T|||||4142|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.390G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.370G>A||||||
22	19241688	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|3/33|c.313G>A|p.Ala105Thr|386/5513|313/4923|105/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|3/32|c.313G>A|p.Ala105Thr|357/5313|313/4752|105/1583||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|3/34|c.313G>A|p.Ala105Thr|388/5512|313/4923|105/1640||,T|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|4/4|c.376G>A|p.Ala126Thr|451/582|376/507|126/168||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|2/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|3/32|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|2/34|c.313G>A||||||,T|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|3/34|c.313G>A||||||,T|upstream_gene_variant|MODIFIER|KRT18P62|ENSG00000233471|transcript|ENST00000446618|processed_pseudogene||n.-1C>T|||||3355|,T|downstream_gene_variant|MODIFIER|SNORA15|ENSG00000251940|transcript|ENST00000516131|snoRNA||n.*94C>T|||||4199|,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|3/30|n.333G>A||||||,T|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|3/31|n.313G>A||||||
22	19263157	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.239T>C|p.Ile80Thr|312/5513|239/4923|80/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.239T>C|p.Ile80Thr|283/5313|239/4752|80/1583||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.239T>C|p.Ile80Thr|314/5512|239/4923|80/1640||,G|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.239T>C|p.Ile80Thr|314/582|239/507|80/168||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|2/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|3/32|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|2/34|c.239T>C||||||,G|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|3/34|c.239T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.259T>C||||||,G|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.239T>C||||||
22	19263172	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.224C>G|p.Pro75Arg|297/5513|224/4923|75/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.224C>G|p.Pro75Arg|268/5313|224/4752|75/1583||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.224C>G|p.Pro75Arg|299/5512|224/4923|75/1640||,C|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.224C>G|p.Pro75Arg|299/582|224/507|75/168||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|2/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000353891|protein_coding|3/32|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|2/34|c.224C>G||||||,C|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_2|ENST00000427926|protein_coding|3/34|c.224C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.244C>G||||||,C|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.224C>G||||||
22	19263214	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.182C>T|p.Pro61Leu|255/5513|182/4923|61/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.182C>T|p.Pro61Leu|226/5313|182/4752|61/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.182C>T|p.Pro61Leu|257/5512|182/4923|61/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.182C>T|p.Pro61Leu|257/582|182/507|61/168||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000353891|protein_coding|2/32|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.182C>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000427926|protein_coding|2/34|c.182C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.202C>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.182C>T||||||
22	19263266	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000263200|protein_coding|2/33|c.130G>T|p.Val44Phe|203/5513|130/4923|44/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000353891|protein_coding|2/32|c.130G>T|p.Val44Phe|174/5313|130/4752|44/1583||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000427926|protein_coding|2/34|c.130G>T|p.Val44Phe|205/5512|130/4923|44/1640||,A|missense_variant|MODERATE|CLTCL1|ENSG00000070371|transcript|ENST00000449918|protein_coding|2/4|c.130G>T|p.Val44Phe|205/582|130/507|44/168||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|9/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|1/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|2/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|7/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|5/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|8/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|3/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|6/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000353891|protein_coding|4/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000353891|protein_coding|2/32|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|9/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|2/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|7/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|5/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|8/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|1/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|3/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|6/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:Globular_terminal_domain|ENST00000427926|protein_coding|4/34|c.130G>T||||||,A|sequence_feature|LOW|CLTCL1|ENSG00000070371|region_of_interest:WD40-like_repeat_1|ENST00000427926|protein_coding|2/34|c.130G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000413132|retained_intron|2/30|n.150G>T||||||,A|non_coding_exon_variant|MODIFIER|CLTCL1|ENSG00000070371|transcript|ENST00000505027|nonsense_mediated_decay|2/31|n.130G>T||||||
22	19341007	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|23/25|c.2720C>G|p.Pro907Arg|2977/4053|2720/3054|907/1017||,C|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|19/21|c.2099C>G|p.Pro700Arg|2319/3395|2099/2433|700/810||,C|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|23/25|c.2588C>G|p.Pro863Arg|2720/3436|2588/2922|863/973||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2720C>G||||||,C|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2720C>G||||||,C|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2490C>G|||||55086|,C|3_prime_UTR_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|23/24|c.*61C>G|||||537|,C|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|23/24|n.*2490C>G||||||
22	19341548	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|22/24|c.2417G>A|p.Arg806His|2707/2979|2417/2421|806/806||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|22/25|c.2655G>A|p.Pro885Pro|2912/4053|2655/3054|885/1017||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|18/21|c.2034G>A|p.Pro678Pro|2254/3395|2034/2433|678/810||,T|synonymous_variant|LOW|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|22/25|c.2523G>A|p.Pro841Pro|2655/3436|2523/2922|841/973||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2655G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2655G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|22/24|n.*2425G>A|||||54545|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|22/24|n.*2425G>A||||||
22	19344524	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|19/25|c.2285C>T|p.Thr762Ile|2542/4053|2285/3054|762/1017||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|19/25|c.2153C>T|p.Thr718Ile|2285/3436|2153/2922|718/973||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|20/24|c.2153C>T|p.Thr718Ile|2443/2979|2153/2421|718/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|25/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|20/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|22/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|24/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|19/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|21/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|23/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H4|ENST00000263208|protein_coding|18/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|20/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|19/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|21/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.2285C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.2285C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/24|n.*2161C>T|||||51569|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-713C>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|20/24|n.*2161C>T||||||
22	19349416	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|16/25|c.1814G>A|p.Arg605Gln|2071/4053|1814/3054|605/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|16/25|c.1682G>A|p.Arg561Gln|1814/3436|1682/2922|561/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|17/24|c.1682G>A|p.Arg561Gln|1972/2979|1682/2421|561/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|17/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|20/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|16/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|19/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|21/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_histone_H2B|ENST00000263208|protein_coding|18/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|17/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|16/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_PAX3|ENST00000263208|protein_coding|18/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1814G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1814G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/24|n.*1690G>A|||||46677|,T|upstream_gene_variant|MODIFIER|RN7SL168P|ENSG00000244296|transcript|ENST00000463821|misc_RNA||n.-1C>T|||||3873|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/20|c.1776-5605G>A||||||,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|17/24|n.*1690G>A||||||
22	19363188	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|15/25|c.1741G>A|p.Ala581Thr|1998/4053|1741/3054|581/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|15/21|c.1741G>A|p.Ala581Thr|1961/3395|1741/2433|581/810||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|15/25|c.1609G>A|p.Ala537Thr|1741/3436|1609/2922|537/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|16/24|c.1609G>A|p.Ala537Thr|1899/2979|1609/2421|537/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1741G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1741G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/24|n.*1617G>A|||||32905|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|16/24|n.*1617G>A||||||
22	19365428	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|14/25|c.1577G>T|p.Ser526Ile|1834/4053|1577/3054|526/1017||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|14/21|c.1577G>T|p.Ser526Ile|1797/3395|1577/2433|526/810||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|14/25|c.1445G>T|p.Ser482Ile|1577/3436|1445/2922|482/973||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|15/24|c.1445G>T|p.Ser482Ile|1735/2979|1445/2421|482/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1577G>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1577G>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1453G>T|||||30665|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|15/24|n.*1453G>T||||||
22	19373100	.	A	T	.	.	ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|12/25|c.1273T>A|p.Ser425Thr|1530/4053|1273/3054|425/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|12/21|c.1273T>A|p.Ser425Thr|1493/3395|1273/2433|425/810||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|12/25|c.1141T>A|p.Ser381Thr|1273/3436|1141/2922|381/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|13/24|c.1141T>A|p.Ser381Thr|1431/2979|1141/2421|381/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|15/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|17/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|16/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|13/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|12/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|18/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_CCNA1|ENST00000263208|protein_coding|14/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|13/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|12/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000263208|protein_coding|14/25|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|13/21|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|12/21|c.1273T>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|interacting_region:Interaction_with_ASF1A|ENST00000340170|protein_coding|14/21|c.1273T>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1149T>A|||||22993|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|13/24|n.*1149T>A||||||
22	19376062	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|10/25|c.952C>T|p.Arg318Trp|1209/4053|952/3054|318/1017||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|10/21|c.952C>T|p.Arg318Trp|1172/3395|952/2433|318/810||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|10/25|c.820C>T|p.Arg274Trp|952/3436|820/2922|274/973||,A|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|11/24|c.820C>T|p.Arg274Trp|1110/2979|820/2421|274/806||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|10/25|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|8/25|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000263208|protein_coding|9/25|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|10/21|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|9/21|c.952C>T||||||,A|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_6|ENST00000340170|protein_coding|8/21|c.952C>T||||||,A|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|11/24|n.*828C>T|||||20031|,A|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|11/24|n.*828C>T||||||
22	19384377	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding|7/25|c.587G>A|p.Arg196His|844/4053|587/3054|196/1017||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding|7/21|c.587G>A|p.Arg196His|807/3395|587/2433|196/810||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|7/25|c.455G>A|p.Arg152His|587/3436|455/2922|152/973||,T|missense_variant|MODERATE|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|8/24|c.455G>A|p.Arg152His|745/2979|455/2421|152/806||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000263208|protein_coding|7/25|c.587G>A||||||,T|sequence_feature|LOW|HIRA|ENSG00000100084|repeat:WD_4|ENST00000340170|protein_coding|7/21|c.587G>A||||||,T|3_prime_UTR_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*463G>A|||||11716|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.*560G>A|||||1207|,T|downstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay||n.*160G>A|||||1214|,T|non_coding_exon_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|8/24|n.*463G>A||||||
22	19420109	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|1/4|c.32T>C|p.Leu11Pro|685/1387|32/621|11/206||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|2/4|c.32T>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|3/4|c.32T>C||||||,C|sequence_feature|LOW|MRPL40|ENSG00000185608|transit_peptide:Mitochondrion|ENST00000333130|protein_coding|1/4|c.32T>C||||||,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258A>G|||||853|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221A>G|||||890|,C|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000464189|processed_transcript||n.-1A>G|||||2323|,C|upstream_gene_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript||n.-1T>C|||||353|,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+15079A>G||||||,C|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+14792A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+14792A>G||||||,C|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+14792A>G||||||,C|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|1/4|n.8T>C||||||
22	19423249	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|4/4|c.385C>T|p.Arg129Cys|1038/1387|385/621|129/206||,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258G>A|||||3993|,T|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221G>A|||||4030|,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+11939G>A||||||,T|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+11652G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+11652G>A||||||,T|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+11652G>A||||||,T|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|4/4|n.613C>T||||||,T|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|3/3|n.658C>T||||||
22	19423250	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MRPL40|ENSG00000185608|transcript|ENST00000333130|protein_coding|4/4|c.386G>A|p.Arg129His|1039/1387|386/621|129/206||,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000263208|protein_coding||c.-258C>T|||||3994|,A|upstream_gene_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000340170|protein_coding||c.-221C>T|||||4031|,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000541063|protein_coding|1/24|c.-96+11938C>T||||||,A|intron_variant|MODIFIER|C22orf39|ENSG00000242259|transcript|ENST00000509549|nonsense_mediated_decay|2/23|n.192+11651C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000546308|protein_coding|2/23|c.-96+11651C>T||||||,A|intron_variant|MODIFIER|HIRA|ENSG00000100084|transcript|ENST00000452818|nonsense_mediated_decay|1/5|n.72+11651C>T||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000443660|processed_transcript|4/4|n.614G>A||||||,A|non_coding_exon_variant|MODIFIER|MRPL40|ENSG00000185608|transcript|ENST00000471259|processed_transcript|3/3|n.659G>A||||||
22	19455430	.	G	C	.	.	ANN=C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding|5/12|c.388C>G|p.Pro130Ala|518/1814|388/924|130/307||,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding|4/11|c.355C>G|p.Pro119Ala|485/1750|355/891|119/296||,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding|5/12|c.388C>G|p.Pro130Ala|475/1007|388/801|130/266||,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding|2/7|c.100C>G|p.Pro34Ala|217/596|100/479|34/158||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding|4/7|c.355C>G|p.Pro119Ala|455/670|355/570|119/189||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding|5/5|c.373C>G|p.Pro125Ala|554/588|373/407|125/134||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding|3/3|c.196C>G|p.Pro66Ala|281/293|196/208|66/68||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000263202|protein_coding|5/12|c.388C>G||||||,C|sequence_feature|LOW|UFD1L|ENSG00000070010|helix|ENST00000399523|protein_coding|5/12|c.388C>G||||||,C|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000466373|retained_intron||n.-1C>G|||||191|,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron|5/11|n.449C>G||||||,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript|5/6|n.644C>G||||||,C|non_coding_exon_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron|5/5|n.490C>G||||||
22	19467510	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|1/20|c.19C>G|p.Arg7Gly|97/2007|19/1797|7/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|2/20|c.19C>G|p.Arg7Gly|275/2090|19/1701|7/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|1/4|c.19C>G|p.Arg7Gly|250/568|19/337|7/111||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|1/19|c.19C>G|p.Arg7Gly|95/1909|19/1701|7/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|1/18|c.19C>G|p.Arg7Gly|50/1693|19/1563|7/520||,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131G>C|||||772|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131G>C|||||772|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88G>C|||||815|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1G>C|||||815|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118G>C|||||785|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101G>C|||||802|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1G>C|||||904|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1G>C|||||800|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182G>C|||||1056|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86G>C|||||843|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron||n.-1C>G|||||163|,G|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3C>G|||||2764|,G|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|1/5|c.16-171C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|1/4|n.250C>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|1/8|n.87C>G||||||
22	19470249	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|4/20|c.241G>A|p.Val81Ile|319/2007|241/1797|81/598||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|5/20|c.241G>A|p.Val81Ile|497/2090|241/1701|81/566||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|4/6|c.205G>A|p.Val69Ile|280/552|205/477|69/158||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding|4/4|c.241G>A|p.Val81Ile|472/568|241/337|81/111||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|4/19|c.241G>A|p.Val81Ile|317/1909|241/1701|81/566||,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131C>T|||||3511|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131C>T|||||3511|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88C>T|||||3554|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1C>T|||||3554|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118C>T|||||3524|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101C>T|||||3541|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1C>T|||||3643|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1C>T|||||3539|,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182C>T|||||3795|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86C>T|||||3582|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.-3G>A|||||25|,A|intron_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|3/17|c.205-1136G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron|3/4|n.610G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|4/8|n.309G>A||||||,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|3/8|n.198G>A||||||
22	19471407	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|5/20|c.365A>G|p.Asp122Gly|443/2007|365/1797|122/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|6/20|c.365A>G|p.Asp122Gly|621/2090|365/1701|122/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|5/6|c.329A>G|p.Asp110Gly|404/552|329/477|110/158||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|5/19|c.365A>G|p.Asp122Gly|441/1909|365/1701|122/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|4/18|c.227A>G|p.Asp76Gly|258/1693|227/1563|76/520||,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131T>C|||||4669|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131T>C|||||4669|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88T>C|||||4712|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1T>C|||||4712|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118T>C|||||4682|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101T>C|||||4699|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1T>C|||||4801|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1T>C|||||4697|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000494054|protein_coding||c.-182T>C|||||4953|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86T>C|||||4740|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.*568A>G|||||1062|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.*723A>G|||||11|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|5/8|n.433A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|4/8|n.322A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|2/8|n.98A>G||||||
22	19471506	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|5/20|c.464A>G|p.Glu155Gly|542/2007|464/1797|155/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|6/20|c.464A>G|p.Glu155Gly|720/2090|464/1701|155/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding|5/6|c.428A>G|p.Glu143Gly|503/552|428/477|143/158||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|5/19|c.464A>G|p.Glu155Gly|540/1909|464/1701|155/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|4/18|c.326A>G|p.Glu109Gly|357/1693|326/1563|109/520||,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000263202|protein_coding||c.-131T>C|||||4768|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000360834|protein_coding||c.-131T>C|||||4768|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000399523|protein_coding||c.-88T>C|||||4811|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000459854|retained_intron||n.-1T>C|||||4811|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000447868|protein_coding||c.-118T>C|||||4781|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000421968|protein_coding||c.-101T>C|||||4798|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000484101|processed_transcript||n.-1T>C|||||4900|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000489406|retained_intron||n.-1T>C|||||4796|,G|upstream_gene_variant|MODIFIER|UFD1L|ENSG00000070010|transcript|ENST00000474226|protein_coding||c.-86T>C|||||4839|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000455750|protein_coding||c.*568A>G|||||1161|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000491520|retained_intron||n.*723A>G|||||110|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|5/8|n.532A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|4/8|n.421A>G||||||,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|2/8|n.197A>G||||||
22	19481883	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|6/20|c.520C>T|p.Arg174Trp|598/2007|520/1797|174/598||,T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|7/20|c.520C>T|p.Arg174Trp|776/2090|520/1701|174/566||,T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|6/19|c.520C>T|p.Arg174Trp|596/1909|520/1701|174/566||,T|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|5/18|c.382C>T|p.Arg128Trp|413/1693|382/1563|128/520||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000438587|protein_coding||c.*552C>T|||||7|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000483431|processed_transcript|6/8|n.588C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000487669|retained_intron|5/8|n.477C>T||||||,T|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay|3/8|n.253C>T||||||
22	19496080	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/20|c.1179C>G|p.Phe393Leu|1257/2007|1179/1797|393/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/20|c.1083C>G|p.Phe361Leu|1339/2090|1083/1701|361/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/19|c.1083C>G|p.Phe361Leu|1159/1909|1083/1701|361/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/18|c.945C>G|p.Phe315Leu|976/1693|945/1563|315/520||,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290C>G|||||3187|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/5|n.687C>G||||||
22	19496123	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|14/20|c.1222G>A|p.Val408Met|1300/2007|1222/1797|408/598||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|14/20|c.1126G>A|p.Val376Met|1382/2090|1126/1701|376/566||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|13/19|c.1126G>A|p.Val376Met|1202/1909|1126/1701|376/566||,A|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|12/18|c.988G>A|p.Val330Met|1019/1693|988/1563|330/520||,A|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000428937|nonsense_mediated_decay||n.*290G>A|||||3230|,A|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|4/5|n.730G>A||||||
22	19502300	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|15/20|c.1342C>G|p.Leu448Val|1420/2007|1342/1797|448/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|15/20|c.1246C>G|p.Leu416Val|1502/2090|1246/1701|416/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|14/19|c.1246C>G|p.Leu416Val|1322/1909|1246/1701|416/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|13/18|c.1108C>G|p.Leu370Val|1139/1693|1108/1563|370/520||,G|upstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.-1C>G|||||1657|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron|5/5|n.850C>G||||||
22	19504134	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|17/20|c.1621A>G|p.Ile541Val|1699/2007|1621/1797|541/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|17/20|c.1525A>G|p.Ile509Val|1781/2090|1525/1701|509/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|16/19|c.1525A>G|p.Ile509Val|1601/1909|1525/1701|509/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|15/18|c.1387A>G|p.Ile463Val|1418/1693|1387/1563|463/520||,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857A>G|||||1827|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|1/4|n.178A>G||||||
22	19504398	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding|18/20|c.1714A>G|p.Asn572Asp|1792/2007|1714/1797|572/598||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding|18/20|c.1618A>G|p.Asn540Asp|1874/2090|1618/1701|540/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding|17/19|c.1618A>G|p.Asn540Asp|1694/1909|1618/1701|540/566||,G|missense_variant|MODERATE|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding|16/18|c.1480A>G|p.Asn494Asp|1511/1693|1480/1563|494/520||,G|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000471470|retained_intron||n.*857A>G|||||2091|,G|non_coding_exon_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron|2/4|n.271A>G||||||
22	19511229	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.805G>A|p.Gly269Ser|1678/2357|805/912|269/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.805G>A|p.Gly269Ser|1866/2548|805/912|269/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.805G>A|p.Gly269Ser|1106/1760|805/912|269/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3095|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3094|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3095|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3128|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3112|
22	19511520	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.514G>A|p.Ala172Thr|1387/2357|514/912|172/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.514G>A|p.Ala172Thr|1575/2548|514/912|172/303||,T|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.514G>A|p.Ala172Thr|815/1760|514/912|172/303||,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875C>T|||||3386|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957C>T|||||3385|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777C>T|||||3386|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594C>T|||||3419|,T|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469C>T|||||3403|
22	19511780	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000403084|protein_coding|1/1|c.254C>G|p.Ala85Gly|1127/2357|254/912|85/303||,C|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000406028|protein_coding|2/2|c.254C>G|p.Ala85Gly|1315/2548|254/912|85/303||,C|missense_variant|MODERATE|CLDN5|ENSG00000184113|transcript|ENST00000413119|protein_coding|2/2|c.254C>G|p.Ala85Gly|555/1760|254/912|85/303||,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000437685|protein_coding||c.*1875G>C|||||3646|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000407835|protein_coding||c.*1957G>C|||||3645|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000263201|protein_coding||c.*1777G>C|||||3646|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000404724|protein_coding||c.*1594G>C|||||3679|,C|downstream_gene_variant|MODIFIER|CDC45|ENSG00000093009|transcript|ENST00000493724|retained_intron||n.*469G>C|||||3663|
22	19707757	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|4/11|c.385G>A|p.Glu129Lys|691/1588|385/1137|129/378||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|5/12|c.358G>A|p.Glu120Lys|483/2070|358/1110|120/369||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|5/12|c.358G>A|p.Glu120Lys|443/1974|358/1014|120/337||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|4/10|c.217G>A|p.Glu73Lys|421/1108|217/904|73/300||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding|4/8|c.472G>A|p.Glu158Lys|480/920|472/912|158/303||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|4/11|c.385G>A|p.Glu129Lys|665/2241|385/1041|129/346||,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding|3/6|c.217G>A|p.Glu73Lys|471/794|217/540|73/179||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding|1/4|c.46G>A|p.Glu16Lys|47/318|46/317|16/104||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.358G>A||||||,A|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.358G>A||||||,A|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626G>A|||||2711|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.-1G>A|||||108|,A|upstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron||n.-1G>A|||||320|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>A|||||1179|,A|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>A|||||21|,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|5/10|n.358G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|4/12|n.385G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|4/12|n.217G>A||||||
22	19709460	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding|9/11|c.957C>G|p.His319Gln|1263/1588|957/1137|319/378||,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding|10/12|c.930C>G|p.His310Gln|1055/2070|930/1110|310/369||,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding|10/12|c.919C>G|p.Leu307Val|1004/1974|919/1014|307/337||,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding|9/10|c.789C>G|p.His263Gln|993/1108|789/904|263/300||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding|9/11|c.946C>G|p.Leu316Val|1226/2241|946/1041|316/346||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|4/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|10/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|3/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|6/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|7/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|9/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|8/12|c.930C>G||||||,G|sequence_feature|LOW|SEPT5|ENSG00000184702|domain:Septin-type_G|ENST00000455784|protein_coding|5/12|c.930C>G||||||,G|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|9/10|n.*86C>G|||||86|,G|upstream_gene_variant|MODIFIER|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding||c.-626C>G|||||1008|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920C>G|||||217|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774C>G|||||2882|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794C>G|||||1104|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577C>G|||||1724|,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318C>G|||||1063|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563C>G|||||68|,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay|9/10|n.*86C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|9/12|n.957C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|9/12|n.789C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|4/6|n.428C>G||||||
22	19711493	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GP1BB|ENSG00000203618|transcript|ENST00000366425|protein_coding|2/2|c.127G>T|p.Gly43Trp|752/1553|127/621|43/206||,T|sequence_feature|LOW|GP1BB|ENSG00000203618|domain:LRRNT|ENST00000366425|protein_coding|2/2|c.127G>T||||||,T|sequence_feature|LOW|GP1BB|ENSG00000203618|topological_domain:Extracellular|ENST00000366425|protein_coding|2/2|c.127G>T||||||,T|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|12/12|n.*1212G>T|||||1486|,T|3_prime_UTR_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|12/12|n.*1212G>T|||||1486|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000383045|protein_coding||c.*1443G>T|||||1341|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455784|protein_coding||c.*1235G>T|||||651|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406395|protein_coding||c.*1099G>T|||||696|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000406172|nonsense_mediated_decay||n.*807G>T|||||651|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000412544|protein_coding||c.*1108G>T|||||1639|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431124|protein_coding||c.*920G>T|||||2250|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000490204|processed_transcript||n.*774G>T|||||4915|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000438754|protein_coding||c.*1321G>T|||||651|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000395109|protein_coding||c.*794G>T|||||3137|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000477238|retained_intron||n.*577G>T|||||3757|,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000413258|protein_coding||c.*318G>T|||||3096|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000480423|retained_intron||n.*563G>T|||||2101|,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000455843|nonsense_mediated_decay|12/12|n.*1212G>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000431044|nonsense_mediated_decay|12/12|n.*1212G>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT5|ENSG00000184702|transcript|ENST00000470814|retained_intron|6/6|n.2099G>T||||||
22	19752610	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|6/9|c.814G>T|p.Ala272Ser|943/2082|814/1488|272/495||,T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|6/9|c.814G>T|p.Ala272Ser|943/1465|814/1197|272/398||,T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|6/10|c.814G>T|p.Ala272Ser|943/1538|814/1119|272/372||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|7/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|5/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|4/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|3/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000332710|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000332710|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|7/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|5/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|4/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|3/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000329705|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000329705|protein_coding|6/9|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|7/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|5/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|4/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|3/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|DNA-binding_region:T-box|ENST00000359500|protein_coding|6/10|c.814G>T||||||,T|sequence_feature|LOW|TBX1|ENSG00000184058|beta_strand|ENST00000359500|protein_coding|6/10|c.814G>T||||||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546G>T|||||1385|,T|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|1/3|n.9G>T||||||
22	19753444	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|8/9|c.928G>A|p.Gly310Ser|1057/2082|928/1488|310/495||,A|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/9|c.928G>A|p.Gly310Ser|1057/1465|928/1197|310/398||,A|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/10|c.928G>A|p.Gly310Ser|1057/1538|928/1119|310/372||,A|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546G>A|||||2219|,A|non_coding_exon_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron|3/3|n.123G>A||||||
22	19754091	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|9/9|c.1189A>C|p.Asn397His|1318/2082|1189/1488|397/495||,C|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546A>C|||||2866|,C|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.*529A>C|||||241|,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1009+566A>C||||||,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1009+566A>C||||||
22	19754211	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000332710|protein_coding|9/9|c.1309C>T|p.Pro437Ser|1438/2082|1309/1488|437/495||,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000475303|retained_intron||n.*546C>T|||||2986|,T|downstream_gene_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000484336|retained_intron||n.*529C>T|||||361|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|8/8|c.1009+686C>T||||||,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1009+686C>T||||||
22	19766782	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1049C>T|p.Thr350Met|1178/1465|1049/1197|350/398||,T|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221G>A|||||3965|,T|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3654C>T||||||
22	19766797	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1064C>G|p.Pro355Arg|1193/1465|1064/1197|355/398||,G|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221G>C|||||3950|,G|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3639C>G||||||
22	19766809	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TBX1|ENSG00000184058|transcript|ENST00000329705|protein_coding|9/9|c.1076T>C|p.Val359Ala|1205/1465|1076/1197|359/398||,C|downstream_gene_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding||c.*1221A>G|||||3938|,C|intron_variant|MODIFIER|TBX1|ENSG00000184058|transcript|ENST00000359500|protein_coding|8/9|c.1010-3627T>C||||||
22	19776348	.	C	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.868G>T|p.Val290Leu|1105/6706|868/984|290/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.868G>T|p.Val290Leu|1289/1699|868/984|290/327||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.868G>T||||||,A|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1C>A|||||3469|,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-199G>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.836G>T||||||
22	19776365	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.851C>T|p.Thr284Met|1088/6706|851/984|284/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.851C>T|p.Thr284Met|1272/1699|851/984|284/327||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.851C>T||||||,A|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1G>A|||||3452|,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-216C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.819C>T||||||
22	19776389	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.827G>A|p.Arg276His|1064/6706|827/984|276/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.827G>A|p.Arg276His|1248/1699|827/984|276/327||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.827G>A||||||,T|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1C>T|||||3428|,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-240G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.795G>A||||||
22	19776444	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|8/8|c.772G>A|p.Glu258Lys|1009/6706|772/984|258/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|7/7|c.772G>A|p.Glu258Lys|1193/1699|772/984|258/327||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_5|ENST00000403325|protein_coding|7/7|c.772G>A||||||,T|upstream_gene_variant|MODIFIER|AC000089.3|ENSG00000235776|transcript|ENST00000424559|processed_pseudogene||n.-1C>T|||||3373|,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.631-295G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|6/6|n.740G>A||||||
22	19789541	.	A	C	.	.	ANN=C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.715T>G|p.Trp239Gly|952/6706|715/984|239/327||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.715T>G|p.Trp239Gly|1136/1699|715/984|239/327||,C|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|7/7|c.715T>G||||||,C|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|6/7|c.715T>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/7|c.630+85T>G||||||,C|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.683T>G||||||,C|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.835T>G||||||
22	19789627	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.629C>T|p.Pro210Leu|866/6706|629/984|210/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.629C>T|p.Pro210Leu|1050/1699|629/984|210/327||,A|missense_variant&splice_region_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/8|c.629C>T|p.Pro210Leu|866/1076|629/639|210/212||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|7/7|c.629C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_4|ENST00000403325|protein_coding|6/7|c.629C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.597C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.749C>T||||||
22	19789649	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.607C>T|p.Arg203Cys|844/6706|607/984|203/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.607C>T|p.Arg203Cys|1028/1699|607/984|203/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/8|c.607C>T|p.Arg203Cys|844/1076|607/639|203/212||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|6/7|c.607C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|5/7|c.607C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|7/8|c.607C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|6/8|c.607C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.575C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.727C>T||||||
22	19789723	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|7/8|c.533G>A|p.Arg178His|770/6706|533/984|178/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|6/7|c.533G>A|p.Arg178His|954/1699|533/984|178/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|7/8|c.533G>A|p.Arg178His|770/1076|533/639|178/212||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|6/7|c.533G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000403325|protein_coding|5/7|c.533G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|7/8|c.533G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_3|ENST00000405009|protein_coding|6/8|c.533G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|5/6|n.501G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|4/4|n.653G>A||||||
22	19799875	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|5/8|c.350G>A|p.Arg117Gln|587/6706|350/984|117/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|4/7|c.350G>A|p.Arg117Gln|771/1699|350/984|117/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|5/8|c.350G>A|p.Arg117Gln|587/1076|350/639|117/212||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|3/3|c.224G>A|p.Arg75Gln|645/702|224/281|75/92||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|3/6|n.318G>A||||||,T|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|2/4|n.470G>A||||||
22	19799963	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|5/8|c.262C>T|p.Arg88Trp|499/6706|262/984|88/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|4/7|c.262C>T|p.Arg88Trp|683/1699|262/984|88/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|5/8|c.262C>T|p.Arg88Trp|499/1076|262/639|88/212||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|3/3|c.136C>T|p.Arg46Trp|557/702|136/281|46/92||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|3/7|c.262C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|4/7|c.262C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|4/8|c.262C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|5/8|c.262C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|3/6|n.230C>T||||||,A|non_coding_exon_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|2/4|n.382C>T||||||
22	19808167	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|4/8|c.208T>C|p.Cys70Arg|445/6706|208/984|70/327||,G|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|3/7|c.208T>C|p.Cys70Arg|629/1699|208/984|70/327||,G|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|4/8|c.208T>C|p.Cys70Arg|445/1076|208/639|70/212||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|3/7|c.208T>C||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000403325|protein_coding|4/7|c.208T>C||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|4/8|c.208T>C||||||,G|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_2|ENST00000405009|protein_coding|5/8|c.208T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8197T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8197T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/2|c.128+584T>C||||||WARNING_TRANSCRIPT_INCOMPLETE
22	19808205	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|4/8|c.170G>A|p.Arg57Gln|407/6706|170/984|57/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|3/7|c.170G>A|p.Arg57Gln|591/1699|170/984|57/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|4/8|c.170G>A|p.Arg57Gln|407/1076|170/639|57/212||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.170G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.170G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.170G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.170G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8235G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8235G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/2|c.128+546G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	19808769	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.110G>A|p.Arg37His|347/6706|110/984|37/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.110G>A|p.Arg37His|531/1699|110/984|37/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.110G>A|p.Arg37His|347/1076|110/639|37/212||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.110G>A|p.Arg37His|531/702|110/281|37/92||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.110G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.110G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.110G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.110G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8799G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8799G>A||||||
22	19808791	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.88G>A|p.Glu30Lys|325/6706|88/984|30/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.88G>A|p.Glu30Lys|509/1699|88/984|30/327||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.88G>A|p.Glu30Lys|325/1076|88/639|30/212||,T|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.88G>A|p.Glu30Lys|509/702|88/281|30/92||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.88G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.88G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.88G>A||||||,T|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.88G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8821G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8821G>A||||||
22	19808805	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.74C>T|p.Ala25Val|311/6706|74/984|25/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.74C>T|p.Ala25Val|495/1699|74/984|25/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.74C>T|p.Ala25Val|311/1076|74/639|25/212||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.74C>T|p.Ala25Val|495/702|74/281|25/92||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|3/7|c.74C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000403325|protein_coding|2/7|c.74C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|4/8|c.74C>T||||||,A|sequence_feature|LOW|GNB1L|ENSG00000185838|repeat:WD_1|ENST00000405009|protein_coding|3/8|c.74C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8835C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8835C>T||||||
22	19808859	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.20C>G|p.Pro7Arg|257/6706|20/984|7/327||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.20C>G|p.Pro7Arg|441/1699|20/984|7/327||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.20C>G|p.Pro7Arg|257/1076|20/639|7/212||,C|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.20C>G|p.Pro7Arg|441/702|20/281|7/92||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GNB1L|ENSG00000185838|compositionally_biased_region:Poly-Pro|ENST00000403325|protein_coding|2/7|c.20C>G||||||,C|sequence_feature|LOW|GNB1L|ENSG00000185838|compositionally_biased_region:Poly-Pro|ENST00000405009|protein_coding|3/8|c.20C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8889C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8889C>G||||||
22	19808874	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|3/8|c.5C>T|p.Thr2Met|242/6706|5/984|2/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|2/7|c.5C>T|p.Thr2Met|426/1699|5/984|2/327||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|3/8|c.5C>T|p.Thr2Met|242/1076|5/639|2/212||,A|missense_variant|MODERATE|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|2/3|c.5C>T|p.Thr2Met|426/702|5/281|2/92||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.223-8904C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.375-8904C>T||||||
22	19839019	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.766G>A|p.Glu256Lys|1269/6619|766/1095|256/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.766G>A|p.Glu256Lys|1165/6523|766/1095|256/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.766G>A|p.Glu256Lys|1435/6785|766/1095|256/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||493|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2947G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2947G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2947G>A||||||
22	19839241	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.544C>G|p.Pro182Ala|1047/6619|544/1095|182/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.544C>G|p.Pro182Ala|943/6523|544/1095|182/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.544C>G|p.Pro182Ala|1213/6785|544/1095|182/364||,C|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>G|||||271|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2725C>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2725C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2725C>G||||||
22	19839274	.	A	G	.	.	ANN=G|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.511T>C|p.Phe171Leu|1014/6619|511/1095|171/364||,G|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.511T>C|p.Phe171Leu|910/6523|511/1095|171/364||,G|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.511T>C|p.Phe171Leu|1180/6785|511/1095|171/364||,G|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730T>C|||||238|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2692T>C||||||,G|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2692T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2692T>C||||||
22	19839286	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.499G>A|p.Asp167Asn|1002/6619|499/1095|167/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.499G>A|p.Asp167Asn|898/6523|499/1095|167/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.499G>A|p.Asp167Asn|1168/6785|499/1095|167/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||226|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2680G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2680G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2680G>A||||||
22	19839351	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.434G>A|p.Arg145His|937/6619|434/1095|145/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.434G>A|p.Arg145His|833/6523|434/1095|145/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.434G>A|p.Arg145His|1103/6785|434/1095|145/364||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||161|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2615G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2615G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2615G>A||||||
22	19839352	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.433C>T|p.Arg145Cys|936/6619|433/1095|145/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.433C>T|p.Arg145Cys|832/6523|433/1095|145/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.433C>T|p.Arg145Cys|1102/6785|433/1095|145/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||160|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2614C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2614C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2614C>T||||||
22	19839355	.	T	C	.	.	ANN=C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.430A>G|p.Arg144Gly|933/6619|430/1095|144/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.430A>G|p.Arg144Gly|829/6523|430/1095|144/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.430A>G|p.Arg144Gly|1099/6785|430/1095|144/364||,C|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730A>G|||||157|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2611A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2611A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2611A>G||||||
22	19839418	.	C	A	.	.	ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.367G>T|p.Asp123Tyr|870/6619|367/1095|123/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.367G>T|p.Asp123Tyr|766/6523|367/1095|123/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.367G>T|p.Asp123Tyr|1036/6785|367/1095|123/364||,A|sequence_feature|LOW|C22orf29|ENSG00000215012|short_sequence_motif:BH3|ENST00000407472|protein_coding|3/3|c.367G>T||||||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>T|||||94|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2548G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2548G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2548G>T||||||
22	19839438	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.347G>A|p.Arg116His|850/6619|347/1095|116/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.347G>A|p.Arg116His|746/6523|347/1095|116/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.347G>A|p.Arg116His|1016/6785|347/1095|116/364||,T|sequence_feature|LOW|C22orf29|ENSG00000215012|short_sequence_motif:BH3|ENST00000407472|protein_coding|3/3|c.347G>A||||||,T|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730G>A|||||74|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2528G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2528G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2528G>A||||||
22	19839453	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.332C>T|p.Pro111Leu|835/6619|332/1095|111/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.332C>T|p.Pro111Leu|731/6523|332/1095|111/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.332C>T|p.Pro111Leu|1001/6785|332/1095|111/364||,A|downstream_gene_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding||c.*730C>T|||||59|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2513C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2513C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2513C>T||||||
22	19839516	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.269G>A|p.Arg90Gln|772/6619|269/1095|90/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.269G>A|p.Arg90Gln|668/6523|269/1095|90/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.269G>A|p.Arg90Gln|938/6785|269/1095|90/364||,T|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.269G>A|p.Arg90Gln|726/730|269/273|90/90||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2450G>A||||||,T|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2450G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2450G>A||||||
22	19839523	.	T	C	.	.	ANN=C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.262A>G|p.Ser88Gly|765/6619|262/1095|88/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.262A>G|p.Ser88Gly|661/6523|262/1095|88/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.262A>G|p.Ser88Gly|931/6785|262/1095|88/364||,C|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.262A>G|p.Ser88Gly|719/730|262/273|88/90||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2443A>G||||||,C|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2443A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2443A>G||||||
22	19839606	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.179C>T|p.Thr60Met|682/6619|179/1095|60/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.179C>T|p.Thr60Met|578/6523|179/1095|60/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.179C>T|p.Thr60Met|848/6785|179/1095|60/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.179C>T|p.Thr60Met|636/730|179/273|60/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2360C>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2360C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2360C>T||||||
22	19839727	.	T	A	.	.	ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.58A>T|p.Asn20Tyr|561/6619|58/1095|20/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.58A>T|p.Asn20Tyr|457/6523|58/1095|20/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.58A>T|p.Asn20Tyr|727/6785|58/1095|20/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.58A>T|p.Asn20Tyr|515/730|58/273|20/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2239A>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2239A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2239A>T||||||
22	19839761	.	C	A	.	.	ANN=A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000328554|protein_coding|3/3|c.24G>T|p.Gln8His|527/6619|24/1095|8/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000407472|protein_coding|3/3|c.24G>T|p.Gln8His|423/6523|24/1095|8/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000405640|protein_coding|2/2|c.24G>T|p.Gln8His|693/6785|24/1095|8/364||,A|missense_variant|MODERATE|C22orf29|ENSG00000215012|transcript|ENST00000416337|protein_coding|3/3|c.24G>T|p.Gln8His|481/730|24/273|8/90||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000329517|protein_coding|2/7|c.-21+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000403325|protein_coding|1/6|c.-21+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000405009|protein_coding|2/7|c.-21+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000460402|processed_transcript|2/5|n.222+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000481086|processed_transcript|1/3|n.374+2205G>T||||||,A|intron_variant|MODIFIER|GNB1L|ENSG00000185838|transcript|ENST00000453108|protein_coding|1/2|c.-21+2205G>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|C22orf29|ENSG00000215012|transcript|ENST00000484072|processed_transcript|2/2|n.141+2205G>T||||||
22	19864669	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1534C>T|p.Arg512Cys|1541/1933|1534/1575|512/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1444C>T|p.Arg482Cys|1628/2025|1444/1485|482/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1531C>T|p.Arg511Cys|1531/3130|1531/1572|511/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1531C>T|p.Arg511Cys|1531/3130|1531/1566|511/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1444C>T|p.Arg482Cys|1503/1814|1444/1479|482/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1608C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1459C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.737C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1628C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1465C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1078C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.657C>T||||||
22	19864680	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1523G>A|p.Arg508His|1530/1933|1523/1575|508/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1433G>A|p.Arg478His|1617/2025|1433/1485|478/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1520G>A|p.Arg507His|1520/3130|1520/1572|507/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1520G>A|p.Arg507His|1520/3130|1520/1566|507/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1433G>A|p.Arg478His|1492/1814|1433/1479|478/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1597G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1448G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.726G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1617G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1454G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1067G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.566G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.646G>A||||||
22	19864729	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|17/18|c.1474C>T|p.Arg492Trp|1481/1933|1474/1575|492/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|17/18|c.1384C>T|p.Arg462Trp|1568/2025|1384/1485|462/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|17/17|c.1471C>T|p.Arg491Trp|1471/3130|1471/1572|491/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|17/17|c.1471C>T|p.Arg491Trp|1471/3130|1471/1566|491/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|17/18|c.1384C>T|p.Arg462Trp|1443/1814|1384/1479|462/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|12/13|n.1548C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|16/17|n.1399C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|6/7|n.677C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|6/7|n.1568C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|16/17|n.1405C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|5/5|n.1018C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|6/7|n.517C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|7/8|n.597C>T||||||
22	19865651	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|16/18|c.1407C>G|p.Asn469Lys|1414/1933|1407/1575|469/524||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|16/18|c.1317C>G|p.Asn439Lys|1501/2025|1317/1485|439/494||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|16/17|c.1404C>G|p.Asn468Lys|1404/3130|1404/1572|468/523||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|16/17|c.1404C>G|p.Asn468Lys|1404/3130|1404/1566|468/521||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|16/18|c.1317C>G|p.Asn439Lys|1376/1814|1317/1479|439/492||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|11/13|n.1481C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|15/17|n.1354C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|5/7|n.610C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|5/7|n.1501C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|15/17|n.1338C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|4/5|n.951C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|5/7|n.450C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|6/8|n.530C>G||||||
22	19868177	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1150G>A|p.Gly384Ser|1157/1933|1150/1575|384/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1060G>A|p.Gly354Ser|1244/2025|1060/1485|354/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1147G>A|p.Gly383Ser|1147/3130|1147/1572|383/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1147G>A|p.Gly383Ser|1147/3130|1147/1566|383/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1060G>A|p.Gly354Ser|1119/1814|1060/1479|354/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1224G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1097G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.353G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1244G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1081G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.694G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.193G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.273G>A||||||
22	19868215	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1112C>T|p.Ala371Val|1119/1933|1112/1575|371/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1022C>T|p.Ala341Val|1206/2025|1022/1485|341/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1109C>T|p.Ala370Val|1109/3130|1109/1572|370/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1109C>T|p.Ala370Val|1109/3130|1109/1566|370/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1022C>T|p.Ala341Val|1081/1814|1022/1479|341/492||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1186C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1059C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.315C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1206C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1043C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.656C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.155C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.235C>T||||||
22	19868218	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1109T>C|p.Ile370Thr|1116/1933|1109/1575|370/524||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1019T>C|p.Ile340Thr|1203/2025|1019/1485|340/494||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1106T>C|p.Ile369Thr|1106/3130|1106/1572|369/523||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1106T>C|p.Ile369Thr|1106/3130|1106/1566|369/521||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1019T>C|p.Ile340Thr|1078/1814|1019/1479|340/492||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1183T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1056T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.312T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1203T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1040T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.653T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.152T>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.232T>C||||||
22	19868236	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|13/18|c.1091G>A|p.Arg364Gln|1098/1933|1091/1575|364/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|13/18|c.1001G>A|p.Arg334Gln|1185/2025|1001/1485|334/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|13/17|c.1088G>A|p.Arg363Gln|1088/3130|1088/1572|363/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|13/17|c.1088G>A|p.Arg363Gln|1088/3130|1088/1566|363/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|13/18|c.1001G>A|p.Arg334Gln|1060/1814|1001/1479|334/492||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|8/13|n.1165G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|12/17|n.1038G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript|2/7|n.294G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|2/7|n.1185G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|12/17|n.1022G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron|1/5|n.635G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript|2/7|n.134G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript|3/8|n.214G>A||||||
22	19870897	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/18|c.1037G>A|p.Arg346Gln|1044/1933|1037/1575|346/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/18|c.947G>A|p.Arg316Gln|1131/2025|947/1485|316/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/17|c.1034G>A|p.Arg345Gln|1034/3130|1034/1572|345/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/17|c.1034G>A|p.Arg345Gln|1034/3130|1034/1566|345/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/18|c.947G>A|p.Arg316Gln|1006/1814|947/1479|316/492||,T|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1C>T|||||3915|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1G>A|||||2005|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1G>A|||||2027|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1G>A|||||2210|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1G>A|||||2220|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/13|n.1111G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/17|n.984G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/7|n.1131G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/17|n.968G>A||||||
22	19870918	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|12/18|c.1016A>T|p.Gln339Leu|1023/1933|1016/1575|339/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|12/18|c.926A>T|p.Gln309Leu|1110/2025|926/1485|309/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|12/17|c.1013A>T|p.Gln338Leu|1013/3130|1013/1572|338/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|12/17|c.1013A>T|p.Gln338Leu|1013/3130|1013/1566|338/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|12/18|c.926A>T|p.Gln309Leu|985/1814|926/1479|309/492||,A|upstream_gene_variant|MODIFIER|AC000078.5|ENSG00000232926|transcript|ENST00000420617|processed_pseudogene||n.-1T>A|||||3894|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462330|processed_transcript||n.-1A>T|||||2026|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000495655|retained_intron||n.-1A>T|||||2048|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000485358|processed_transcript||n.-1A>T|||||2231|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000462843|processed_transcript||n.-1A>T|||||2241|,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|7/13|n.1090A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|11/17|n.963A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000487165|retained_intron|1/7|n.1110A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|11/17|n.947A>T||||||
22	19882984	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.895A>C|p.Ser299Arg|902/1933|895/1575|299/524||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.805A>C|p.Ser269Arg|989/2025|805/1485|269/494||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.892A>C|p.Ser298Arg|892/3130|892/1572|298/523||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.892A>C|p.Ser298Arg|892/3130|892/1566|298/521||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.805A>C|p.Ser269Arg|864/1814|805/1479|269/492||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.895A>C|p.Ser299Arg|896/1893|895/1017|299/338||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.969A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.842A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.826A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.885A>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.213A>C||||||
22	19883032	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|11/18|c.847C>T|p.Arg283Trp|854/1933|847/1575|283/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|11/18|c.757C>T|p.Arg253Trp|941/2025|757/1485|253/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|11/17|c.844C>T|p.Arg282Trp|844/3130|844/1572|282/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|11/17|c.844C>T|p.Arg282Trp|844/3130|844/1566|282/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|11/18|c.757C>T|p.Arg253Trp|816/1814|757/1479|253/492||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|11/12|c.847C>T|p.Arg283Trp|848/1893|847/1017|283/338||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|6/13|n.921C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|10/17|n.794C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|10/17|n.778C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|11/12|n.837C>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|2/3|n.165C>T||||||
22	19885573	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|10/18|c.763G>C|p.Gly255Arg|770/1933|763/1575|255/524||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|10/18|c.673G>C|p.Gly225Arg|857/2025|673/1485|225/494||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|10/17|c.760G>C|p.Gly254Arg|760/3130|760/1572|254/523||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|10/17|c.760G>C|p.Gly254Arg|760/3130|760/1566|254/521||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|10/18|c.673G>C|p.Gly225Arg|732/1814|673/1479|225/492||,G|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|10/12|c.763G>C|p.Gly255Arg|764/1893|763/1017|255/338||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|5/13|n.837G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|9/17|n.710G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|9/17|n.694G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|10/12|n.753G>C||||||,G|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000475995|processed_transcript|1/3|n.81G>C||||||
22	19898912	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|8/18|c.650C>A|p.Ser217Tyr|657/1933|650/1575|217/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|8/18|c.560C>A|p.Ser187Tyr|744/2025|560/1485|187/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|8/17|c.647C>A|p.Ser216Tyr|647/3130|647/1572|216/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|8/17|c.647C>A|p.Ser216Tyr|647/3130|647/1566|216/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|8/18|c.560C>A|p.Ser187Tyr|619/1814|560/1479|187/492||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|8/12|c.650C>A|p.Ser217Tyr|651/1893|650/1017|217/338||,T|downstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron||n.*910C>A|||||3511|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|3/13|n.724C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|7/17|n.597C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|7/17|n.581C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|8/12|n.640C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|4/5|n.280C>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|3/3|n.195C>A||||||
22	19903311	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|6/18|c.505G>A|p.Gly169Ser|512/1933|505/1575|169/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|6/18|c.415G>A|p.Gly139Ser|599/2025|415/1485|139/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|6/17|c.502G>A|p.Gly168Ser|502/3130|502/1572|168/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|6/17|c.502G>A|p.Gly168Ser|502/3130|502/1566|168/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|6/18|c.415G>A|p.Gly139Ser|474/1814|415/1479|139/492||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|6/12|c.505G>A|p.Gly169Ser|506/1893|505/1017|169/338||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron|1/13|n.579G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|5/17|n.452G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|5/17|n.436G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|6/12|n.495G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|2/5|n.135G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron|1/3|n.50G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|6/7|n.510G>A||||||
22	19905710	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|5/18|c.405C>G|p.His135Gln|412/1933|405/1575|135/524||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|5/18|c.315C>G|p.His105Gln|499/2025|315/1485|105/494||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|5/17|c.402C>G|p.His134Gln|402/3130|402/1572|134/523||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|5/17|c.402C>G|p.His134Gln|402/3130|402/1566|134/521||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|5/18|c.315C>G|p.His105Gln|374/1814|315/1479|105/492||,C|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|5/12|c.405C>G|p.His135Gln|406/1893|405/1017|135/338||,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1C>G|||||1821|,C|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1C>G|||||2350|,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|4/17|n.352C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|4/17|n.336C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|5/12|n.395C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript|1/5|n.35C>G||||||,C|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|5/7|n.410C>G||||||
22	19906498	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|4/18|c.259G>A|p.Val87Ile|266/1933|259/1575|87/524||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|4/18|c.169G>A|p.Val57Ile|353/2025|169/1485|57/494||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|4/17|c.256G>A|p.Val86Ile|256/3130|256/1572|86/523||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|4/17|c.256G>A|p.Val86Ile|256/3130|256/1566|86/521||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|4/18|c.169G>A|p.Val57Ile|228/1814|169/1479|57/492||,T|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|4/12|c.259G>A|p.Val87Ile|260/1893|259/1017|87/338||,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>A|||||2609|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>A|||||754|,T|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>A|||||3138|,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|3/17|n.206G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|3/17|n.190G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|4/12|n.249G>A||||||,T|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|4/7|n.264G>A||||||
22	19907099	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|3/18|c.196G>T|p.Ala66Ser|203/1933|196/1575|66/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|3/18|c.106G>T|p.Ala36Ser|290/2025|106/1485|36/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|3/17|c.193G>T|p.Ala65Ser|193/3130|193/1572|65/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|3/17|c.193G>T|p.Ala65Ser|193/3130|193/1566|65/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|3/18|c.106G>T|p.Ala36Ser|165/1814|106/1479|36/492||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|3/12|c.196G>T|p.Ala66Ser|197/1893|196/1017|66/338||,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000494454|retained_intron||n.-1G>T|||||3210|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000484672|processed_transcript||n.-1G>T|||||1355|,A|upstream_gene_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000471835|retained_intron||n.-1G>T|||||3739|,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/16|n.177-572G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|2/17|n.127G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|3/12|n.186G>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|3/7|n.201G>T||||||
22	19918615	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400521|protein_coding|2/18|c.110A>T|p.Gln37Leu|117/1933|110/1575|37/524||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400518|protein_coding|2/18|c.20A>T|p.Gln7Leu|204/2025|20/1485|7/494||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000400519|protein_coding|2/17|c.107A>T|p.Gln36Leu|107/3130|107/1572|36/523||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000535882|protein_coding|2/17|c.107A>T|p.Gln36Leu|107/3130|107/1566|36/521||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000542719|protein_coding|2/18|c.20A>T|p.Gln7Leu|79/1814|20/1479|7/492||,A|missense_variant|MODERATE|TXNRD2|ENSG00000184470|transcript|ENST00000334363|protein_coding|2/12|c.110A>T|p.Gln37Leu|111/1893|110/1017|37/338||,A|intron_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000400525|nonsense_mediated_decay|1/16|n.103+10609A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000474308|processed_transcript|2/17|n.114A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000491939|processed_transcript|2/12|n.100A>T||||||,A|non_coding_exon_variant|MODIFIER|TXNRD2|ENSG00000184470|transcript|ENST00000496729|retained_intron|2/7|n.115A>T||||||
22	19950137	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.88G>A|p.Gly30Ser|470/2437|88/816|30/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.88G>A|p.Gly30Ser|344/2217|88/708|30/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.88G>A|p.Gly30Ser|598/1548|88/816|30/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.88G>A|p.Gly30Ser|290/871|88/669|30/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.88G>A|p.Gly30Ser|331/1339|88/816|30/271||,A|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.-63G>A|||||63|,A|5_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.-63G>A|||||63|,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||1139|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||731|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||1085|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.284G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.88G>A||||||
22	19950257	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.208G>A|p.Gly70Arg|590/2437|208/816|70/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.208G>A|p.Gly70Arg|464/2217|208/708|70/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.208G>A|p.Gly70Arg|718/1548|208/816|70/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.58G>A|p.Gly20Arg|587/1457|58/666|20/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.208G>A|p.Gly70Arg|410/871|208/669|70/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.208G>A|p.Gly70Arg|451/1339|208/816|70/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.58G>A|p.Gly20Arg|188/2035|58/666|20/221||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||1019|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||611|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||965|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.404G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.208G>A||||||
22	19950263	.	G	T	.	.	ANN=T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.214G>T|p.Ala72Ser|596/2437|214/816|72/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.214G>T|p.Ala72Ser|470/2217|214/708|72/235||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.214G>T|p.Ala72Ser|724/1548|214/816|72/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.64G>T|p.Ala22Ser|593/1457|64/666|22/221||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.214G>T|p.Ala72Ser|416/871|214/669|72/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.214G>T|p.Ala72Ser|457/1339|214/816|72/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.64G>T|p.Ala22Ser|194/2035|64/666|22/221||,T|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.214G>T||||||,T|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>T|||||1013|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>T|||||605|,T|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>T|||||959|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.410G>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.214G>T||||||
22	19950299	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.250G>A|p.Glu84Lys|632/2437|250/816|84/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.250G>A|p.Glu84Lys|506/2217|250/708|84/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.250G>A|p.Glu84Lys|760/1548|250/816|84/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.100G>A|p.Glu34Lys|629/1457|100/666|34/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.250G>A|p.Glu84Lys|452/871|250/669|84/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.250G>A|p.Glu84Lys|493/1339|250/816|84/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.100G>A|p.Glu34Lys|230/2035|100/666|34/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.250G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||977|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||569|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||923|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.446G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.250G>A||||||
22	19950329	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|3/6|c.280G>A|p.Asp94Asn|662/2437|280/816|94/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|3/5|c.280G>A|p.Asp94Asn|536/2217|280/708|94/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|3/6|c.280G>A|p.Asp94Asn|790/1548|280/816|94/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|4/7|c.130G>A|p.Asp44Asn|659/1457|130/666|44/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|3/6|c.280G>A|p.Asp94Asn|482/871|280/669|94/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|3/6|c.280G>A|p.Asp94Asn|523/1339|280/816|94/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|1/4|c.130G>A|p.Asp44Asn|260/2035|130/666|44/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.280G>A||||||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.280G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||947|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.-1G>A|||||539|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||893|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron|3/3|n.476G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|3/6|n.280G>A||||||
22	19951103	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.304G>A|p.Ala102Thr|686/2437|304/816|102/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.304G>A|p.Ala102Thr|560/2217|304/708|102/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.304G>A|p.Ala102Thr|814/1548|304/816|102/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.154G>A|p.Ala52Thr|683/1457|154/666|52/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.304G>A|p.Ala102Thr|506/871|304/669|102/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.304G>A|p.Ala102Thr|547/1339|304/816|102/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.154G>A|p.Ala52Thr|284/2035|154/666|52/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.304G>A||||||,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.304G>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||173|,A|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2G>A|||||119|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546G>A|||||704|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.42G>A||||||
22	19951116	.	A	G	.	.	ANN=G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.317A>G|p.Glu106Gly|699/2437|317/816|106/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.317A>G|p.Glu106Gly|573/2217|317/708|106/235||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.317A>G|p.Glu106Gly|827/1548|317/816|106/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.167A>G|p.Glu56Gly|696/1457|167/666|56/221||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.317A>G|p.Glu106Gly|519/871|317/669|106/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.317A>G|p.Glu106Gly|560/1339|317/816|106/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.167A>G|p.Glu56Gly|297/2035|167/666|56/221||,G|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.317A>G||||||,G|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|3/6|c.317A>G||||||,G|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1A>G|||||160|,G|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2A>G|||||106|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546A>G|||||717|,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.317A>G||||||,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.55A>G||||||
22	19951220	.	A	G	.	.	ANN=G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.421A>G|p.Ile141Val|803/2437|421/816|141/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.421A>G|p.Ile141Val|677/2217|421/708|141/235||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.421A>G|p.Ile141Val|931/1548|421/816|141/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.271A>G|p.Ile91Val|800/1457|271/666|91/221||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.421A>G|p.Ile141Val|623/871|421/669|141/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.421A>G|p.Ile141Val|664/1339|421/816|141/271||,G|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.271A>G|p.Ile91Val|401/2035|271/666|91/221||,G|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|4/6|c.421A>G||||||,G|sequence_feature|LOW|COMT|ENSG00000093010|binding_site:S-adenosyl-L-methionine|ENST00000406520|protein_coding|4/6|c.421A>G||||||,G|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1A>G|||||56|,G|upstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.-2A>G|||||2|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546A>G|||||821|,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.421A>G||||||,G|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.159A>G||||||
22	19951247	.	C	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.448C>A|p.Gln150Lys|830/2437|448/816|150/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.448C>A|p.Gln150Lys|704/2217|448/708|150/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.448C>A|p.Gln150Lys|958/1548|448/816|150/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.298C>A|p.Gln100Lys|827/1457|298/666|100/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.448C>A|p.Gln150Lys|650/871|448/669|150/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.448C>A|p.Gln150Lys|691/1339|448/816|150/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.298C>A|p.Gln100Lys|428/2035|298/666|100/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|1/3|c.25C>A|p.Gln9Lys|26/724|25/456|9/151||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|COMT|ENSG00000093010|helix|ENST00000406520|protein_coding|4/6|c.448C>A||||||,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1C>A|||||29|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>A|||||848|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.448C>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.186C>A||||||
22	19951271	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|4/6|c.472G>A|p.Val158Met|854/2437|472/816|158/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|4/5|c.472G>A|p.Val158Met|728/2217|472/708|158/235||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|4/6|c.472G>A|p.Val158Met|982/1548|472/816|158/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|5/7|c.322G>A|p.Val108Met|851/1457|322/666|108/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|4/6|c.472G>A|p.Val158Met|674/871|472/669|158/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|4/6|c.472G>A|p.Val158Met|715/1339|472/816|158/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|2/4|c.322G>A|p.Val108Met|452/2035|322/666|108/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|1/3|c.49G>A|p.Val17Met|50/724|49/456|17/151||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.-1G>A|||||5|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546G>A|||||872|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|4/6|n.472G>A||||||,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|2/3|n.210G>A||||||
22	19951710	.	C	T	.	.	ANN=T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|5/6|c.503C>T|p.Ala168Val|885/2437|503/816|168/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding|5/5|c.503C>T|p.Ala168Val|759/2217|503/708|168/235||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|5/6|c.503C>T|p.Ala168Val|1013/1548|503/816|168/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|6/7|c.353C>T|p.Ala118Val|882/1457|353/666|118/221||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding|5/6|c.503C>T|p.Ala168Val|705/871|503/669|168/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|5/6|c.503C>T|p.Ala168Val|746/1339|503/816|168/271||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|3/4|c.353C>T|p.Ala118Val|483/2035|353/666|118/221||,T|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding|2/3|c.80C>T|p.Ala27Val|81/724|80/456|27/151||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|COMT|ENSG00000093010|region_of_interest:S-adenosyl-L-methionine_binding|ENST00000406520|protein_coding|5/6|c.503C>T||||||,T|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82C>T|||||353|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000467943|retained_intron||n.*546C>T|||||1311|,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|5/6|n.561C>T||||||,T|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript|3/3|n.241C>T||||||
22	19956221	.	G	A	.	.	ANN=A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding|6/6|c.778G>A|p.Ala260Thr|1160/2437|778/816|260/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding|6/6|c.778G>A|p.Ala260Thr|1288/1548|778/816|260/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding|7/7|c.628G>A|p.Ala210Thr|1157/1457|628/666|210/221||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding|6/6|c.778G>A|p.Ala260Thr|1021/1339|778/816|260/271||,A|missense_variant|MODERATE|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding|4/4|c.628G>A|p.Ala210Thr|758/2035|628/666|210/221||,A|sequence_feature|LOW|COMT|ENSG00000093010|beta_strand|ENST00000406520|protein_coding|6/6|c.778G>A||||||,A|3_prime_UTR_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*236G>A|||||4472|,A|downstream_gene_variant|MODIFIER|MIR4761|ENSG00000265087|transcript|ENST00000585066|miRNA||n.*82G>A|||||4864|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding||c.*3181C>T|||||1198|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403184|protein_coding||c.*964G>A|||||3053|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000493893|processed_transcript||n.*354G>A|||||4398|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||1004|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.*2549C>T|||||1200|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.*2700C>T|||||1200|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.*2700C>T|||||2530|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.*2682C>T|||||2530|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding||c.*2871C>T|||||2530|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||4464|,A|non_coding_exon_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay|6/6|n.*236G>A||||||
22	19958789	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|19/20|c.2851G>A|p.Gly951Arg|3143/4041|2851/2889|951/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|17/18|c.2662G>A|p.Gly888Arg|2662/3558|2662/2700|888/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|17/17|c.2662G>A|p.Gly888Arg|2662/2700|2662/2700|888/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|16/16|c.2644G>A|p.Gly882Arg|2644/2682|2644/2682|882/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|16/16|c.2833G>A|p.Gly945Arg|2833/2871|2833/2871|945/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1291|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2308|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2268|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||2677|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2250|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2250|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1291|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||3572|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1896|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/11|n.1704-523G>A||||||
22	19959455	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2735G>A|p.Arg912Gln|3027/4041|2735/2889|912/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2546G>A|p.Arg849Gln|2546/3558|2546/2700|849/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2546G>A|p.Arg849Gln|2546/2700|2546/2700|849/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2528G>A|p.Arg843Gln|2528/2682|2528/2682|843/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2717G>A|p.Arg906Gln|2717/2871|2717/2871|906/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1957|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2974|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2934|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3343|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2916|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2916|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1957|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4238|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1230|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1657G>A||||||
22	19959456	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2734C>T|p.Arg912Trp|3026/4041|2734/2889|912/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2545C>T|p.Arg849Trp|2545/3558|2545/2700|849/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2545C>T|p.Arg849Trp|2545/2700|2545/2700|849/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2527C>T|p.Arg843Trp|2527/2682|2527/2682|843/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2716C>T|p.Arg906Trp|2716/2871|2716/2871|906/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||1958|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||2975|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||2935|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||3344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||2917|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||2917|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||1958|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457G>A|||||4239|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||1229|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1656C>T||||||
22	19959464	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2726G>A|p.Arg909Gln|3018/4041|2726/2889|909/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2537G>A|p.Arg846Gln|2537/3558|2537/2700|846/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2537G>A|p.Arg846Gln|2537/2700|2537/2700|846/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2519G>A|p.Arg840Gln|2519/2682|2519/2682|840/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2708G>A|p.Arg903Gln|2708/2871|2708/2871|903/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1966|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2983|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2943|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3352|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2925|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2925|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1966|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4247|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1221|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1648G>A||||||
22	19959473	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|18/20|c.2717G>A|p.Arg906Gln|3009/4041|2717/2889|906/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|16/18|c.2528G>A|p.Arg843Gln|2528/3558|2528/2700|843/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|16/17|c.2528G>A|p.Arg843Gln|2528/2700|2528/2700|843/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|15/16|c.2510G>A|p.Arg837Gln|2510/2682|2510/2682|837/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|15/16|c.2699G>A|p.Arg900Gln|2699/2871|2699/2871|900/956||,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>T|||||1975|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>T|||||2992|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>T|||||2952|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>T|||||3361|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>T|||||2934|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>T|||||2934|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>T|||||1975|,T|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>T|||||4256|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>A|||||1212|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|11/12|n.1639G>A||||||
22	19959919	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|17/20|c.2657G>T|p.Gly886Val|2949/4041|2657/2889|886/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|15/18|c.2468G>T|p.Gly823Val|2468/3558|2468/2700|823/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|15/17|c.2468G>T|p.Gly823Val|2468/2700|2468/2700|823/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|14/16|c.2450G>T|p.Gly817Val|2450/2682|2450/2682|817/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|14/16|c.2639G>T|p.Gly880Val|2639/2871|2639/2871|880/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>A|||||2421|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>A|||||3438|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>A|||||3398|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>A|||||3807|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>A|||||3380|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>A|||||3380|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>A|||||2421|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000428707|protein_coding||c.*457C>A|||||4702|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>T|||||766|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|10/12|n.1579G>T||||||
22	19960326	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|16/20|c.2575C>T|p.Pro859Ser|2867/4041|2575/2889|859/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|14/18|c.2386C>T|p.Pro796Ser|2386/3558|2386/2700|796/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|14/17|c.2386C>T|p.Pro796Ser|2386/2700|2386/2700|796/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|13/16|c.2368C>T|p.Pro790Ser|2368/2682|2368/2682|790/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|13/16|c.2557C>T|p.Pro853Ser|2557/2871|2557/2871|853/956||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||2828|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||3845|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||3805|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4214|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3787|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3787|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||2828|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||359|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|9/12|n.1497C>T||||||
22	19960485	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2513C>G|p.Thr838Ser|2805/4041|2513/2889|838/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2324C>G|p.Thr775Ser|2324/3558|2324/2700|775/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2324C>G|p.Thr775Ser|2324/2700|2324/2700|775/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2306C>G|p.Thr769Ser|2306/2682|2306/2682|769/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2495C>G|p.Thr832Ser|2495/2871|2495/2871|832/956||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||2987|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||4004|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||3964|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||4373|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||3946|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||3946|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||2987|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||200|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1435C>G||||||
22	19960512	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2486T>C|p.Val829Ala|2778/4041|2486/2889|829/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2297T>C|p.Val766Ala|2297/3558|2297/2700|766/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2297T>C|p.Val766Ala|2297/2700|2297/2700|766/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2279T>C|p.Val760Ala|2279/2682|2279/2682|760/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2468T>C|p.Val823Ala|2468/2871|2468/2871|823/956||,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198A>G|||||3014|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326A>G|||||4031|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195A>G|||||3991|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871A>G|||||4400|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765A>G|||||3973|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059A>G|||||3973|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796A>G|||||3014|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551T>C|||||173|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1408T>C||||||
22	19960533	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2465C>T|p.Ala822Val|2757/4041|2465/2889|822/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2276C>T|p.Ala759Val|2276/3558|2276/2700|759/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2276C>T|p.Ala759Val|2276/2700|2276/2700|759/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2258C>T|p.Ala753Val|2258/2682|2258/2682|753/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2447C>T|p.Ala816Val|2447/2871|2447/2871|816/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2465C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2465C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2276C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2276C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3035|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4052|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4012|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4421|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3994|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3994|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3035|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||152|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1387C>T||||||
22	19960536	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2462C>T|p.Ala821Val|2754/4041|2462/2889|821/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2273C>T|p.Ala758Val|2273/3558|2273/2700|758/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2273C>T|p.Ala758Val|2273/2700|2273/2700|758/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2255C>T|p.Ala752Val|2255/2682|2255/2682|752/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2444C>T|p.Ala815Val|2444/2871|2444/2871|815/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2462C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2462C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2273C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2273C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3038|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4055|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4015|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4424|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||3997|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||3997|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3038|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||149|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1384C>T||||||
22	19960542	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2456C>G|p.Ala819Gly|2748/4041|2456/2889|819/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2267C>G|p.Ala756Gly|2267/3558|2267/2700|756/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2267C>G|p.Ala756Gly|2267/2700|2267/2700|756/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2249C>G|p.Ala750Gly|2249/2682|2249/2682|750/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2438C>G|p.Ala813Gly|2438/2871|2438/2871|813/956||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2456C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2456C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2267C>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2267C>G||||||,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>C|||||3044|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>C|||||4061|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>C|||||4021|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>C|||||4430|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>C|||||4003|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>C|||||4003|,C|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>C|||||3044|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>G|||||143|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1378C>G||||||
22	19960548	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|15/20|c.2450G>C|p.Arg817Pro|2742/4041|2450/2889|817/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|13/18|c.2261G>C|p.Arg754Pro|2261/3558|2261/2700|754/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|13/17|c.2261G>C|p.Arg754Pro|2261/2700|2261/2700|754/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|12/16|c.2243G>C|p.Arg748Pro|2243/2682|2243/2682|748/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|12/16|c.2432G>C|p.Arg811Pro|2432/2871|2432/2871|811/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2450G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2450G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2261G>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2261G>C||||||,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198C>G|||||3050|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326C>G|||||4067|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195C>G|||||4027|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871C>G|||||4436|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765C>G|||||4009|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059C>G|||||4009|,G|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796C>G|||||3050|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551G>C|||||137|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|8/12|n.1372G>C||||||
22	19960666	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|14/20|c.2414C>T|p.Ala805Val|2706/4041|2414/2889|805/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|12/18|c.2225C>T|p.Ala742Val|2225/3558|2225/2700|742/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|12/17|c.2225C>T|p.Ala742Val|2225/2700|2225/2700|742/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|11/16|c.2207C>T|p.Ala736Val|2207/2682|2207/2682|736/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|11/16|c.2396C>T|p.Ala799Val|2396/2871|2396/2871|799/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|15/20|c.2414C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000263207|protein_coding|14/20|c.2414C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|13/17|c.2225C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_10|ENST00000401994|protein_coding|12/17|c.2225C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||3168|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000403710|protein_coding||c.*1326G>A|||||4185|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000407537|protein_coding||c.*1195G>A|||||4145|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000412786|protein_coding||c.*871G>A|||||4554|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000207636|nonsense_mediated_decay||n.*765G>A|||||4127|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000406520|protein_coding||c.*1059G>A|||||4127|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||3168|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.*551C>T|||||19|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|7/12|n.1336C>T||||||
22	19961730	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|12/20|c.1993C>T|p.Arg665Cys|2285/4041|1993/2889|665/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|10/18|c.1804C>T|p.Arg602Cys|1804/3558|1804/2700|602/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|10/17|c.1804C>T|p.Arg602Cys|1804/2700|1804/2700|602/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|9/16|c.1786C>T|p.Arg596Cys|1786/2682|1786/2682|596/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|9/16|c.1975C>T|p.Arg659Cys|1975/2871|1975/2871|659/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|11/20|c.1993C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000263207|protein_coding|12/20|c.1993C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|9/17|c.1804C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_7|ENST00000401994|protein_coding|10/17|c.1804C>T||||||,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000361682|protein_coding||c.*1198G>A|||||4232|,A|downstream_gene_variant|MODIFIER|COMT|ENSG00000093010|transcript|ENST00000449653|protein_coding||c.*796G>A|||||4232|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|5/12|n.915C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|2/4|n.149C>T||||||
22	19963258	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|11/20|c.1911C>G|p.Asp637Glu|2203/4041|1911/2889|637/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|9/18|c.1722C>G|p.Asp574Glu|1722/3558|1722/2700|574/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|9/17|c.1722C>G|p.Asp574Glu|1722/2700|1722/2700|574/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|8/16|c.1704C>G|p.Asp568Glu|1704/2682|1704/2682|568/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|8/16|c.1893C>G|p.Asp631Glu|1893/2871|1893/2871|631/956||,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>G|||||4262|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|4/12|n.833C>G||||||,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|1/4|n.28C>G||||||
22	19963271	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|11/20|c.1898A>C|p.Asp633Ala|2190/4041|1898/2889|633/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|9/18|c.1709A>C|p.Asp570Ala|1709/3558|1709/2700|570/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|9/17|c.1709A>C|p.Asp570Ala|1709/2700|1709/2700|570/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|8/16|c.1691A>C|p.Asp564Ala|1691/2682|1691/2682|564/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|8/16|c.1880A>C|p.Asp627Ala|1880/2871|1880/2871|627/956||,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>C|||||4249|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|4/12|n.820A>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript|1/4|n.15A>C||||||
22	19965069	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1739A>G|p.Tyr580Cys|2031/4041|1739/2889|580/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1550A>G|p.Tyr517Cys|1550/3558|1550/2700|517/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1550A>G|p.Tyr517Cys|1550/2700|1550/2700|517/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1550A>G|p.Tyr517Cys|1550/2682|1550/2682|517/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1739A>G|p.Tyr580Cys|1739/2871|1739/2871|580/956||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000263207|protein_coding|9/20|c.1739A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000401994|protein_coding|7/17|c.1550A>G||||||,C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>G|||||1784|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>G|||||2451|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>G|||||3606|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>G|||||3836|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>G|||||3999|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>G|||||4445|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.679A>G||||||
22	19965084	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|9/20|c.1724T>C|p.Met575Thr|2016/4041|1724/2889|575/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|7/18|c.1535T>C|p.Met512Thr|1535/3558|1535/2700|512/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|7/17|c.1535T>C|p.Met512Thr|1535/2700|1535/2700|512/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|7/16|c.1535T>C|p.Met512Thr|1535/2682|1535/2682|512/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|7/16|c.1724T>C|p.Met575Thr|1724/2871|1724/2871|575/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000263207|protein_coding|9/20|c.1724T>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_6|ENST00000401994|protein_coding|7/17|c.1535T>C||||||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1T>C|||||1799|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108T>C|||||2436|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863T>C|||||3591|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631T>C|||||3821|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433T>C|||||3984|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||4430|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|3/12|n.664T>C||||||
22	19965501	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/20|c.1678C>T|p.Arg560Trp|1970/4041|1678/2889|560/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/18|c.1489C>T|p.Arg497Trp|1489/3558|1489/2700|497/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/17|c.1489C>T|p.Arg497Trp|1489/2700|1489/2700|497/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/16|c.1489C>T|p.Arg497Trp|1489/2682|1489/2682|497/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/16|c.1678C>T|p.Arg560Trp|1678/2871|1678/2871|560/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|7/20|c.1678C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|8/20|c.1678C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|5/17|c.1489C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|6/17|c.1489C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||2216|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108C>T|||||2019|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||3174|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||3404|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||3567|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||4013|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/12|n.618C>T||||||
22	19965563	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|8/20|c.1616G>A|p.Arg539Gln|1908/4041|1616/2889|539/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|6/18|c.1427G>A|p.Arg476Gln|1427/3558|1427/2700|476/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|6/17|c.1427G>A|p.Arg476Gln|1427/2700|1427/2700|476/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|6/16|c.1427G>A|p.Arg476Gln|1427/2682|1427/2682|476/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|6/16|c.1616G>A|p.Arg539Gln|1616/2871|1616/2871|539/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|7/20|c.1616G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000263207|protein_coding|8/20|c.1616G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|5/17|c.1427G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_5|ENST00000401994|protein_coding|6/17|c.1427G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||2278|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||1957|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||3112|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||3342|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||3505|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||3951|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|2/12|n.556G>A||||||
22	19966549	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|7/20|c.1451A>G|p.His484Arg|1743/4041|1451/2889|484/962||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|5/18|c.1262A>G|p.His421Arg|1262/3558|1262/2700|421/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|5/17|c.1262A>G|p.His421Arg|1262/2700|1262/2700|421/899||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|5/16|c.1262A>G|p.His421Arg|1262/2682|1262/2682|421/893||,C|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|5/16|c.1451A>G|p.His484Arg|1451/2871|1451/2871|484/956||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000263207|protein_coding|7/20|c.1451A>G||||||,C|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000401994|protein_coding|5/17|c.1262A>G||||||,C|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>G|||||3264|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>G|||||971|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>G|||||2126|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>G|||||2356|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>G|||||2519|,C|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>G|||||2965|,C|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.391A>G||||||
22	19966562	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|7/20|c.1438G>A|p.Val480Ile|1730/4041|1438/2889|480/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|5/18|c.1249G>A|p.Val417Ile|1249/3558|1249/2700|417/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|5/17|c.1249G>A|p.Val417Ile|1249/2700|1249/2700|417/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|5/16|c.1249G>A|p.Val417Ile|1249/2682|1249/2682|417/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|5/16|c.1438G>A|p.Val480Ile|1438/2871|1438/2871|480/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000263207|protein_coding|7/20|c.1438G>A||||||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000401994|protein_coding|5/17|c.1249G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1G>A|||||3277|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108G>A|||||958|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863G>A|||||2113|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631G>A|||||2343|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||2506|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||2952|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.378G>A||||||
22	19966579	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|7/20|c.1421A>C|p.Tyr474Ser|1713/4041|1421/2889|474/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|5/18|c.1232A>C|p.Tyr411Ser|1232/3558|1232/2700|411/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|5/17|c.1232A>C|p.Tyr411Ser|1232/2700|1232/2700|411/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|5/16|c.1232A>C|p.Tyr411Ser|1232/2682|1232/2682|411/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|5/16|c.1421A>C|p.Tyr474Ser|1421/2871|1421/2871|474/956||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000263207|protein_coding|7/20|c.1421A>C||||||,G|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_4|ENST00000401994|protein_coding|5/17|c.1232A>C||||||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1A>C|||||3294|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron||n.*2108A>C|||||941|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863A>C|||||2096|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631A>C|||||2326|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433A>C|||||2489|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258A>C|||||2935|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron|1/12|n.361A>C||||||
22	19967614	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|6/20|c.1048C>T|p.Arg350Cys|1340/4041|1048/2889|350/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|4/18|c.859C>T|p.Arg287Cys|859/3558|859/2700|287/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|4/17|c.859C>T|p.Arg287Cys|859/2700|859/2700|287/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|4/16|c.859C>T|p.Arg287Cys|859/2682|859/2682|287/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|4/16|c.1048C>T|p.Arg350Cys|1048/2871|1048/2871|350/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000263207|protein_coding|6/20|c.1048C>T||||||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|repeat:ARM_1|ENST00000401994|protein_coding|4/17|c.859C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||675|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000480792|processed_transcript||n.-1C>T|||||4329|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.*863C>T|||||1061|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.*631C>T|||||1291|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||1454|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||1900|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.2014C>T||||||
22	19968933	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.697C>T|p.Arg233Trp|989/4041|697/2889|233/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.508C>T|p.Arg170Trp|508/3558|508/2700|170/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.508C>T|p.Arg170Trp|508/2700|508/2700|170/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.508C>T|p.Arg170Trp|508/2682|508/2682|170/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.697C>T|p.Arg233Trp|697/2871|697/2871|233/956||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||1994|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||135|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||581|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.695C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.605C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.603C>T||||||
22	19968971	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.659C>T|p.Pro220Leu|951/4041|659/2889|220/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.470C>T|p.Pro157Leu|470/3558|470/2700|157/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.470C>T|p.Pro157Leu|470/2700|470/2700|157/899||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.470C>T|p.Pro157Leu|470/2682|470/2682|157/893||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.659C>T|p.Pro220Leu|659/2871|659/2871|220/956||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1C>T|||||2032|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433C>T|||||97|,A|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258C>T|||||543|,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.657C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.567C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.565C>T||||||
22	19969043	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.587G>A|p.Arg196Gln|879/4041|587/2889|196/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.398G>A|p.Arg133Gln|398/3558|398/2700|133/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.398G>A|p.Arg133Gln|398/2700|398/2700|133/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.398G>A|p.Arg133Gln|398/2682|398/2682|133/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.587G>A|p.Arg196Gln|587/2871|587/2871|196/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2104|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript||n.*433G>A|||||25|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||471|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.585G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.495G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.493G>A||||||
22	19969106	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.524T>C|p.Val175Ala|816/4041|524/2889|175/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.335T>C|p.Val112Ala|335/3558|335/2700|112/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.335T>C|p.Val112Ala|335/2700|335/2700|112/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.335T>C|p.Val112Ala|335/2682|335/2682|112/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.524T>C|p.Val175Ala|524/2871|524/2871|175/956||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>C|||||2167|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||408|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.522T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.432T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.430T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.395T>C||||||
22	19969182	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.448G>A|p.Asp150Asn|740/4041|448/2889|150/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.259G>A|p.Asp87Asn|259/3558|259/2700|87/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.259G>A|p.Asp87Asn|259/2700|259/2700|87/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.259G>A|p.Asp87Asn|259/2682|259/2682|87/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.448G>A|p.Asp150Asn|448/2871|448/2871|150/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2243|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||332|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.446G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.356G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.354G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.319G>A||||||
22	19969208	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|5/20|c.422T>C|p.Val141Ala|714/4041|422/2889|141/962||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|3/18|c.233T>C|p.Val78Ala|233/3558|233/2700|78/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|3/17|c.233T>C|p.Val78Ala|233/2700|233/2700|78/899||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|3/16|c.233T>C|p.Val78Ala|233/2682|233/2682|78/893||,G|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|3/16|c.422T>C|p.Val141Ala|422/2871|422/2871|141/956||,G|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1T>C|||||2269|,G|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258T>C|||||306|,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|3/3|n.420T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|3/3|n.330T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|4/4|n.328T>C||||||,G|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|3/3|n.293T>C||||||
22	19969469	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/20|c.356G>A|p.Arg119His|648/4041|356/2889|119/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/18|c.167G>A|p.Arg56His|167/3558|167/2700|56/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/17|c.167G>A|p.Arg56His|167/2700|167/2700|56/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/16|c.167G>A|p.Arg56His|167/2682|167/2682|56/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/16|c.356G>A|p.Arg119His|356/2871|356/2871|119/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2530|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||45|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/3|n.354G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/3|n.264G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/4|n.262G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/3|n.227G>A||||||
22	19969488	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|4/20|c.337G>A|p.Glu113Lys|629/4041|337/2889|113/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding|2/18|c.148G>A|p.Glu50Lys|148/3558|148/2700|50/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding|2/17|c.148G>A|p.Glu50Lys|148/2700|148/2700|50/899||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding|2/16|c.148G>A|p.Glu50Lys|148/2682|148/2682|50/893||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|2/16|c.337G>A|p.Glu113Lys|337/2871|337/2871|113/956||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000495096|retained_intron||n.-1G>A|||||2549|,T|downstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript||n.*258G>A|||||26|,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|2/3|n.335G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript|2/3|n.245G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript|3/4|n.243G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000462319|processed_transcript|2/3|n.208G>A||||||
22	19978218	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.100C>T|p.Arg34Trp|392/4041|100/2889|34/962||,A|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/16|c.100C>T|p.Arg34Trp|100/2871|100/2871|34/956||,A|sequence_feature|LOW|ARVCF|ENSG00000099889|coiled-coil_region|ENST00000263207|protein_coding|3/20|c.100C>T||||||,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1C>T|||||3602|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1C>T|||||3505|,A|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1C>T|||||3540|,A|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8604C>T||||||,A|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/3|n.98C>T||||||
22	19978253	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.65G>A|p.Arg22His|357/4041|65/2889|22/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/16|c.65G>A|p.Arg22His|65/2871|65/2871|22/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|coiled-coil_region|ENST00000263207|protein_coding|3/20|c.65G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1G>A|||||3637|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1G>A|||||3637|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1G>A|||||3637|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1G>A|||||3540|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1G>A|||||3575|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8639G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/3|n.63G>A||||||
22	19978278	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000263207|protein_coding|3/20|c.40G>A|p.Ala14Thr|332/4041|40/2889|14/962||,T|missense_variant|MODERATE|ARVCF|ENSG00000099889|transcript|ENST00000406259|protein_coding|1/16|c.40G>A|p.Ala14Thr|40/2871|40/2871|14/956||,T|sequence_feature|LOW|ARVCF|ENSG00000099889|coiled-coil_region|ENST00000263207|protein_coding|3/20|c.40G>A||||||,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000344269|protein_coding||c.-1G>A|||||3662|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000401994|protein_coding||c.-1G>A|||||3662|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000406522|protein_coding||c.-1G>A|||||3662|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000487793|processed_transcript||n.-1G>A|||||3565|,T|upstream_gene_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000492625|processed_transcript||n.-1G>A|||||3600|,T|intron_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000467828|processed_transcript|1/1|n.158-8664G>A||||||,T|non_coding_exon_variant|MODIFIER|ARVCF|ENSG00000099889|transcript|ENST00000473551|retained_intron|1/3|n.38G>A||||||
22	20041022	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/9|c.451T>A|p.Ser151Thr|715/1920|451/954|151/317||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/10|c.328T>A|p.Ser110Thr|648/1496|328/831|110/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/7|c.328T>A|p.Ser110Thr|400/570|328/496|110/164||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/9|c.328T>A|p.Ser110Thr|506/2273|328/831|110/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/8|c.328T>A|p.Ser110Thr|511/862|328/679|110/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/6|c.451T>A|p.Ser151Thr|608/883|451/597|151/198||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/8|c.343T>A|p.Ser115Thr|343/2108|343/846|115/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*39T>A|||||39|,A|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1T>A|||||2444|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585T>A|||||915|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.483+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.370+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.388+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.305+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.86+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.265+915T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*39T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|6/6|n.851T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.367T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/6|n.367T>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/5|n.65T>A||||||
22	20041023	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|5/9|c.452C>T|p.Ser151Phe|716/1920|452/954|151/317||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|6/10|c.329C>T|p.Ser110Phe|649/1496|329/831|110/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|5/7|c.329C>T|p.Ser110Phe|401/570|329/496|110/164||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|5/9|c.329C>T|p.Ser110Phe|507/2273|329/831|110/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|5/8|c.329C>T|p.Ser110Phe|512/862|329/679|110/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|4/6|c.452C>T|p.Ser151Phe|609/883|452/597|151/198||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|4/8|c.344C>T|p.Ser115Phe|344/2108|344/846|115/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*40C>T|||||40|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.-1C>T|||||2443|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585C>T|||||916|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|4/4|n.483+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|4/5|n.370+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|4/7|n.388+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|4/6|n.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|3/4|n.305+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|3/6|c.86+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|3/5|n.265+916C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|5/9|n.*40C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript|6/6|n.852C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.368C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/6|n.368C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|1/5|n.66C>T||||||
22	20043504	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|6/9|c.542G>A|p.Arg181Gln|806/1920|542/954|181/317||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|7/10|c.419G>A|p.Arg140Gln|739/1496|419/831|140/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding|6/7|c.419G>A|p.Arg140Gln|491/570|419/496|140/164||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|6/9|c.419G>A|p.Arg140Gln|597/2273|419/831|140/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|6/8|c.419G>A|p.Arg140Gln|602/862|419/679|140/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/6|c.542G>A|p.Arg181Gln|699/883|542/597|181/198||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|4/7|c.125G>A|p.Arg42Gln|344/931|125/537|42/178||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|5/8|c.434G>A|p.Arg145Gln|434/2108|434/846|145/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/9|n.*130G>A|||||2521|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432198|protein_coding||c.*585G>A|||||3397|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000479679|processed_transcript||n.*894G>A|||||2439|,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|4/5|n.419+2430G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000471707|retained_intron|5/5|n.522G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|5/6|n.409G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|5/8|n.427G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|6/9|n.*130G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|5/7|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|4/5|n.344G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/6|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000484373|retained_intron|4/4|n.2849G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|2/5|n.156G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript|1/2|n.39G>A||||||
22	20049118	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|7/9|c.640C>T|p.Leu214Phe|904/1920|640/954|214/317||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|5/7|c.331C>T|p.Leu111Phe|549/1559|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|8/10|c.517C>T|p.Leu173Phe|837/1496|517/831|173/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|5/7|c.331C>T|p.Leu111Phe|433/2011|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|5/7|c.331C>T|p.Leu111Phe|509/2085|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|7/9|c.517C>T|p.Leu173Phe|695/2273|517/831|173/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|7/8|c.517C>T|p.Leu173Phe|700/862|517/679|173/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|5/7|c.223C>T|p.Leu75Phe|442/931|223/537|75/178||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|6/8|c.532C>T|p.Leu178Phe|532/2108|532/846|178/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*72C>T|||||5588|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*228C>T|||||8135|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*72C>T|||||5588|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||1978|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense||n.*930G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||2957|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||19|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||368|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense||n.*508G>A|||||1385|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense||n.*831G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense||n.*631G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense||n.*666G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense||n.*701G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense||n.*878G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense||n.*805G>A|||||1416|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense||n.*589G>A|||||1439|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense||n.*828G>A|||||1439|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-2947C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-1743C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|6/6|n.507C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*72C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*228C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*72C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|5/5|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|5/6|n.485C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|3/5|n.254C>T||||||
22	20049131	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|7/9|c.653C>T|p.Ala218Val|917/1920|653/954|218/317||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|5/7|c.344C>T|p.Ala115Val|562/1559|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|8/10|c.530C>T|p.Ala177Val|850/1496|530/831|177/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|5/7|c.344C>T|p.Ala115Val|446/2011|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|5/7|c.344C>T|p.Ala115Val|522/2085|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|7/9|c.530C>T|p.Ala177Val|708/2273|530/831|177/276||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|7/8|c.530C>T|p.Ala177Val|713/862|530/679|177/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|5/7|c.236C>T|p.Ala79Val|455/931|236/537|79/178||,T|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|6/8|c.545C>T|p.Ala182Val|545/2108|545/846|182/281||,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*85C>T|||||5601|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*241C>T|||||8148|,T|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*85C>T|||||5601|,T|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1C>T|||||1965|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense||n.*930G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583G>A|||||2944|,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125C>T|||||381|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense||n.*508G>A|||||1372|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense||n.*831G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense||n.*631G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense||n.*666G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense||n.*701G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense||n.*878G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense||n.*805G>A|||||1403|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense||n.*589G>A|||||1426|,T|downstream_gene_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense||n.*828G>A|||||1426|,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-2934C>T||||||,T|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|4/5|n.*7-1730C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript|6/6|n.520C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|6/8|n.*85C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|7/9|n.*241C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|6/7|n.*85C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron|5/5|n.455C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|5/6|n.498C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|3/5|n.267C>T||||||
22	20050883	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/9|c.751G>A|p.Glu251Lys|1015/1920|751/954|251/317||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/7|c.442G>A|p.Glu148Lys|660/1559|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/10|c.628G>A|p.Glu210Lys|948/1496|628/831|210/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/7|c.442G>A|p.Glu148Lys|544/2011|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/7|c.442G>A|p.Glu148Lys|620/2085|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/9|c.628G>A|p.Glu210Lys|806/2273|628/831|210/276||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|8/8|c.628G>A|p.Glu210Lys|811/862|628/679|210/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/7|c.334G>A|p.Glu112Lys|553/931|334/537|112/178||,A|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/8|c.643G>A|p.Glu215Lys|643/2108|643/846|215/281||,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*183G>A|||||7353|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*339G>A|||||9900|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*183G>A|||||7353|,A|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*29G>A|||||7353|,A|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1G>A|||||213|,A|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583C>T|||||1192|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>A|||||1704|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>A|||||1784|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>A|||||1558|,A|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>A|||||2133|,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-207C>T||||||,A|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1182G>A||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-207C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-210C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-210C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-232C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-210C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-213C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-232C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-232C>T||||||,A|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-207C>T||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*183G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*339G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*183G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*29G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|6/6|n.594G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/5|n.388G>A||||||
22	20050886	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|8/9|c.754G>C|p.Asp252His|1018/1920|754/954|252/317||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|6/7|c.445G>C|p.Asp149His|663/1559|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|9/10|c.631G>C|p.Asp211His|951/1496|631/831|211/276||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|6/7|c.445G>C|p.Asp149His|547/2011|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|6/7|c.445G>C|p.Asp149His|623/2085|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|8/9|c.631G>C|p.Asp211His|809/2273|631/831|211/276||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding|8/8|c.631G>C|p.Asp211His|814/862|631/679|211/225||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|6/7|c.337G>C|p.Asp113His|556/931|337/537|113/178||,C|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|7/8|c.646G>C|p.Asp216His|646/2108|646/846|216/281||,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*186G>C|||||7356|,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*342G>C|||||9903|,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*186G>C|||||7356|,C|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*32G>C|||||7356|,C|upstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript||n.-1G>C|||||210|,C|downstream_gene_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense||n.*583C>G|||||1189|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568G>C|||||1707|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568G>C|||||1787|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649G>C|||||1561|,C|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125G>C|||||2136|,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.788-210C>G||||||,C|intron_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|5/5|c.575-1179G>C||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.335-210C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.692-213C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.492-213C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.549-235C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.562-213C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.742-216C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.688-235C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.495-235C>G||||||,C|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.709-210C>G||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|7/8|n.*186G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|8/9|n.*342G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay|7/7|n.*186G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|5/6|n.*32G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript|6/6|n.597G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|4/5|n.391G>C||||||
22	20052089	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|9/9|c.858T>G|p.Asp286Glu|1122/1920|858/954|286/317||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|7/7|c.549T>G|p.Asp183Glu|767/1559|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|10/10|c.735T>G|p.Asp245Glu|1055/1496|735/831|245/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|7/7|c.549T>G|p.Asp183Glu|651/2011|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|7/7|c.549T>G|p.Asp183Glu|727/2085|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|9/9|c.735T>G|p.Asp245Glu|913/2273|735/831|245/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|7/7|c.441T>G|p.Asp147Glu|660/931|441/537|147/178||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|8/8|c.750T>G|p.Asp250Glu|750/2108|750/846|250/281||,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*290T>G|||||8559|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*446T>G|||||11106|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|6/6|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*136T>G|||||8559|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568T>G|||||2910|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568T>G|||||2990|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489T>G|||||1145|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862T>G|||||1155|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649T>G|||||2764|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617T>G|||||1183|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125T>G|||||3339|,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+580A>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+580A>C||||||,G|non_coding_exon_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense|2/2|n.569A>C||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*290T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*446T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*136T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|5/5|n.495T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|2/2|n.51T>G||||||
22	20052166	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401833|protein_coding|9/9|c.935A>G|p.Glu312Gly|1199/1920|935/954|312/317||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000401886|protein_coding|7/7|c.626A>G|p.Glu209Gly|844/1559|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000447208|protein_coding|10/10|c.812A>G|p.Glu271Gly|1132/1496|812/831|271/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000398042|protein_coding|7/7|c.626A>G|p.Glu209Gly|728/2011|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000432883|protein_coding|7/7|c.626A>G|p.Glu209Gly|804/2085|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000327374|protein_coding|9/9|c.812A>G|p.Glu271Gly|990/2273|812/831|271/276||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000420290|protein_coding|7/7|c.518A>G|p.Glu173Gly|737/931|518/537|173/178||,G|missense_variant|MODERATE|TANGO2|ENSG00000183597|transcript|ENST00000456048|protein_coding|8/8|c.827A>G|p.Glu276Gly|827/2108|827/846|276/281||,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*367A>G|||||8636|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*523A>G|||||11183|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434570|protein_coding|6/6|c.*79A>G|||||79|,G|3_prime_UTR_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*213A>G|||||8636|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000411907|processed_transcript||n.*568A>G|||||2987|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450664|protein_coding||c.*568A>G|||||3067|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000430807|nonsense_mediated_decay||n.*489A>G|||||1222|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000434168|protein_coding||c.*862A>G|||||1232|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000462579|retained_intron||n.*649A>G|||||2841|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000485715|processed_transcript||n.*617A>G|||||1260|,G|downstream_gene_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490121|processed_transcript||n.*125A>G|||||3416|,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000601746|antisense|3/3|n.787+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000415503|antisense|2/2|n.334+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000608610|antisense|2/2|n.691+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600937|antisense|3/3|n.491+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000595864|antisense|3/3|n.548+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000596334|antisense|3/3|n.561+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000600617|antisense|3/3|n.741+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000598339|antisense|2/2|n.687+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609644|antisense|3/3|n.494+503T>C||||||,G|intron_variant|MODIFIER|AC006547.13|ENSG00000236540|transcript|ENST00000609191|antisense|2/2|n.708+503T>C||||||,G|non_coding_exon_variant|MODIFIER|AC006547.15|ENSG00000268292|transcript|ENST00000600090|antisense|2/2|n.492T>C||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000399807|nonsense_mediated_decay|8/8|n.*367A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000450019|nonsense_mediated_decay|9/9|n.*523A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000444651|nonsense_mediated_decay|6/6|n.*213A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000490583|processed_transcript|5/5|n.572A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|ENSG00000183597|transcript|ENST00000476940|processed_transcript|2/2|n.128A>G||||||
22	20073773	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.287C>T|p.Pro96Leu|716/4514|287/2322|96/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.287C>T|p.Pro96Leu|716/4419|287/2223|96/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding|2/2|c.287C>T|p.Pro96Leu|681/770|287/376|96/124||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.287C>T|p.Pro96Leu|429/4129|287/2223|96/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.287C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.287C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||786|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||417|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||108|,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.431C>T||||||
22	20073919	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.433C>T|p.Arg145Trp|862/4514|433/2322|145/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.433C>T|p.Arg145Trp|862/4419|433/2223|145/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.433C>T|p.Arg145Trp|575/4129|433/2223|145/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.433C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.433C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||640|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||563|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||254|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||57|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.577C>T||||||
22	20073923	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.437C>T|p.Ala146Val|866/4514|437/2322|146/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.437C>T|p.Ala146Val|866/4419|437/2223|146/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.437C>T|p.Ala146Val|579/4129|437/2223|146/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.437C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.437C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||636|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||567|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||258|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||61|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.581C>T||||||
22	20073937	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.451C>T|p.Leu151Phe|880/4514|451/2322|151/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.451C>T|p.Leu151Phe|880/4419|451/2223|151/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.451C>T|p.Leu151Phe|593/4129|451/2223|151/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.451C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.451C>T||||||,T|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1C>T|||||622|,T|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88C>T|||||581|,T|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85C>T|||||272|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770C>T|||||75|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.595C>T||||||
22	20074006	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|2/14|c.520A>G|p.Ile174Val|949/4514|520/2322|174/773||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|2/13|c.520A>G|p.Ile174Val|949/4419|520/2223|174/740||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|1/12|c.520A>G|p.Ile174Val|662/4129|520/2223|174/740||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|3/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000351989|protein_coding|2/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|2/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_nuclear_localization_and_retention|ENST00000407755|protein_coding|1/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.520A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.520A>G||||||,G|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.-1A>G|||||553|,G|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88A>G|||||650|,G|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85A>G|||||341|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770A>G|||||144|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.664A>G||||||
22	20074819	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|3/14|c.855G>C|p.Met285Ile|1284/4514|855/2322|285/773||,C|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|3/13|c.855G>C|p.Met285Ile|1284/4419|855/2223|285/740||,C|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|2/12|c.855G>C|p.Met285Ile|997/4129|855/2223|285/740||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|4/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|3/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|2/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000351989|protein_coding|5/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|2/12|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|1/12|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|4/12|c.855G>C||||||,C|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_NCL|ENST00000407755|protein_coding|3/12|c.855G>C||||||,C|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>C|||||1463|,C|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>C|||||1154|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>C|||||957|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|1/12|n.1477G>C||||||,C|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|1/11|n.261G>C||||||
22	20077523	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1048A>G|p.Ile350Val|1477/4514|1048/2322|350/773||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1048A>G|p.Ile350Val|1477/4419|1048/2223|350/740||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1048A>G|p.Ile350Val|1190/4129|1048/2223|350/740||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1048A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1048A>G||||||,G|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1A>G|||||4712|,G|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88A>G|||||4167|,G|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85A>G|||||3858|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770A>G|||||3661|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1670A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.618A>G||||||
22	20077566	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1091G>A|p.Arg364Gln|1520/4514|1091/2322|364/773||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1091G>A|p.Arg364Gln|1520/4419|1091/2223|364/740||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1091G>A|p.Arg364Gln|1233/4129|1091/2223|364/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1091G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1091G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1G>A|||||4669|,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>A|||||4210|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>A|||||3901|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>A|||||3704|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1713G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.661G>A||||||
22	20077694	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|5/14|c.1219G>A|p.Glu407Lys|1648/4514|1219/2322|407/773||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|5/13|c.1219G>A|p.Glu407Lys|1648/4419|1219/2223|407/740||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|4/12|c.1219G>A|p.Glu407Lys|1361/4129|1219/2223|407/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1219G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1219G>A||||||,A|upstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.-1G>A|||||4541|,A|downstream_gene_variant|MODIFIER|MIR3618|ENSG00000266567|transcript|ENST00000580330|miRNA||n.*88G>A|||||4338|,A|downstream_gene_variant|MODIFIER|MIR1306|ENSG00000221366|transcript|ENST00000408439|miRNA||n.*85G>A|||||4029|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000457069|protein_coding||c.*770G>A|||||3832|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|3/12|n.1841G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|2/11|n.789G>A||||||
22	20082293	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|9/14|c.1763A>G|p.Lys588Arg|2192/4514|1763/2322|588/773||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|8/13|c.1664A>G|p.Lys555Arg|2093/4419|1664/2223|555/740||,G|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|7/12|c.1664A>G|p.Lys555Arg|1806/4129|1664/2223|555/740||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|9/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|7/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|4/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|6/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|3/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|11/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|12/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|13/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|5/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|8/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|14/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_heme-binding_and_pri-miRNA_processing|ENST00000351989|protein_coding|10/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.1763A>G||||||,G|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.1763A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|7/12|n.2385A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|6/11|n.1333A>G||||||,G|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron|1/3|n.59A>G||||||
22	20097585	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.2276C>T|p.Ala759Val|2705/4514|2276/2322|759/773||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.2177C>T|p.Ala726Val|2606/4419|2177/2223|726/740||,T|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.2177C>T|p.Ala726Val|2319/4129|2177/2223|726/740||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2276C>T||||||,T|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2276C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526G>A|||||759|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248G>A|||||2276|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630C>T|||||3026|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508C>T|||||2487|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||878|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267G>A|||||1804|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240G>A|||||1813|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762G>A|||||2239|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477G>A|||||2239|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028G>A|||||2242|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040G>A|||||2266|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654G>A|||||2437|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426G>A|||||2506|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||2830|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||3056|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||3424|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||3588|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||3642|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||4705|,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2885C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1846C>T||||||,T|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1470C>T||||||
22	20097602	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding|14/14|c.2293G>A|p.Gly765Ser|2722/4514|2293/2322|765/773||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding|13/13|c.2194G>A|p.Gly732Ser|2623/4419|2194/2223|732/740||,A|missense_variant|MODERATE|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding|12/12|c.2194G>A|p.Gly732Ser|2336/4129|2194/2223|732/740||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|9/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|7/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|6/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|11/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|12/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|13/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|8/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|14/14|c.2293G>A||||||,A|sequence_feature|LOW|DGCR8|ENSG00000128191|region_of_interest:Necessary_for_interaction_with_DROSHA|ENST00000351989|protein_coding|10/14|c.2293G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.*526C>T|||||742|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding||c.*2248C>T|||||2259|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000491892|retained_intron||n.*630G>A|||||3043|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495351|retained_intron||n.*508G>A|||||2504|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||895|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding||c.*2267C>T|||||1787|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding||c.*2240C>T|||||1796|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.*762C>T|||||2222|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.*477C>T|||||2222|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding||c.*2028C>T|||||2225|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.*1040C>T|||||2249|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.*654C>T|||||2420|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.*426C>T|||||2489|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||2813|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||3039|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||3407|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||3571|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||3625|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||4688|,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron|12/12|n.2902G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron|11/11|n.1863G>A||||||,A|non_coding_exon_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron|2/2|n.1487G>A||||||
22	20100133	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1885C>T|p.Pro629Ser|2201/2473|1885/1932|629/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1831C>T|p.Pro611Ser|2220/2964|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1831C>T|p.Pro611Ser|2193/2928|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.430C>T|p.Pro144Ser|430/739|430/477|144/158||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.382C>T|p.Pro128Ser|384/426|382/424|128/140||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*164C>T|||||164|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||735|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||3328|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||3328|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||3328|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4814|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4914|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4938|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4947|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||739|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||735|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||738|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||738|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||733|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3426|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1349|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||282|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||508|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||876|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||1040|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||1094|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||2157|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2727|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2739|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2967|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||3000|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3632|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.453C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.758C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.543C>T||||||
22	20100158	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1860C>G|p.Ser620Arg|2176/2473|1860/1932|620/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1806C>G|p.Ser602Arg|2195/2964|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1806C>G|p.Ser602Arg|2168/2928|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.405C>G|p.Ser135Arg|405/739|405/477|135/158||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.357C>G|p.Ser119Arg|359/426|357/424|119/140||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|MODERATE|TRMT2A|ENSG00000099899|amino_acid_modification:Phosphoserine|ENST00000403707|protein_coding|13/13|c.1806C>G||||||,C|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*139C>G|||||139|,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>G|||||760|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>C|||||3303|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>C|||||3303|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>C|||||3303|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>C|||||4789|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>C|||||4889|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>C|||||4913|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>C|||||4922|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>C|||||764|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>C|||||760|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>C|||||763|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>C|||||763|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>C|||||758|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>C|||||3451|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>C|||||1374|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>G|||||257|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>G|||||483|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>G|||||851|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>G|||||1015|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>G|||||1069|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>G|||||2132|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>G|||||2702|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>G|||||2714|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>G|||||2942|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>G|||||2975|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>G|||||3607|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.428C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.733C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.518C>G||||||
22	20100273	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1745G>A|p.Arg582Gln|2061/2473|1745/1932|582/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1691G>A|p.Arg564Gln|2080/2964|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1691G>A|p.Arg564Gln|2053/2928|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.290G>A|p.Arg97Gln|290/739|290/477|97/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.242G>A|p.Arg81Gln|244/426|242/424|81/140||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*24G>A|||||24|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||875|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3188|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3188|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3188|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4674|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4774|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4798|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4807|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4903|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||879|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||875|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||878|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||878|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||873|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3566|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1489|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||142|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||368|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||736|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||900|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||954|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||2017|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2587|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2599|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2860|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3492|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.313G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.618G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.403G>A||||||
22	20100674	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1570G>A|p.Val524Met|1886/2473|1570/1932|524/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1516G>A|p.Val506Met|1905/2964|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1516G>A|p.Val506Met|1878/2928|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.160G>A|p.Val54Met|160/739|160/477|54/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1516G>A|p.Val506Met|1855/2498|1516/1689|506/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1276|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2787|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2787|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2787|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4273|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4373|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4397|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4406|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4502|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4631|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4724|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4802|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1280|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1276|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1279|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1279|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1274|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3967|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1890|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||335|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||499|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||553|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1616|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2186|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2198|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2426|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2459|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3091|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+281G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.28G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.327G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.949G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.821G>A||||||
22	20100697	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1547G>A|p.Ser516Asn|1863/2473|1547/1932|516/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1493G>A|p.Ser498Asn|1882/2964|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1493G>A|p.Ser498Asn|1855/2928|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.137G>A|p.Ser46Asn|137/739|137/477|46/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1493G>A|p.Ser498Asn|1832/2498|1493/1689|498/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1299|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4760|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2764|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2764|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2764|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4250|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4350|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4374|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4383|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4479|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4608|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4701|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1303|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1299|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1302|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1302|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1297|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3990|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1913|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||312|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||476|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||530|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1593|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2163|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2175|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2403|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2436|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+258G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.5G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.304G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.205G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.926G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.798G>A||||||
22	20101025	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/3|c.127A>G|p.Lys43Glu|129/426|127/424|43/140||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/12|c.1416A>G|p.Val472Val|1732/2473|1416/1932|472/643||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/12|c.1362A>G|p.Val454Val|1751/2964|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/13|c.1362A>G|p.Val454Val|1724/2928|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/4|c.6A>G|p.Val2Val|6/739|6/477|2/158||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/12|c.1362A>G|p.Val454Val|1701/2498|1362/1689|454/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||1627|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||4432|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||324|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||124|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||2436|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||2436|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||2436|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||3922|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||4022|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||4046|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||4055|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||4151|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||4280|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||4451|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||1631|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||1627|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||1630|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||1630|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||1625|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555T>C|||||4318|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||2241|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379A>G|||||148|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757A>G|||||202|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582A>G|||||1265|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||1835|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||1847|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||2075|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||2108|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||2740|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/4|n.173A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/9|n.795A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/8|n.667A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|5/5|n.832A>G||||||
22	20101045	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/12|c.1396G>A|p.Ala466Thr|1712/2473|1396/1932|466/643||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1647|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4412|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||344|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||15|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||144|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2416|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2416|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2416|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||3902|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4002|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4026|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4035|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4131|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4260|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4353|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4431|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1651|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1647|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1650|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1650|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1645|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||4338|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||2261|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||128|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||182|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1245|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||1815|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||1827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2055|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2088|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||2720|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|9/12|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|1/2|c.122-15G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|6/8|n.790-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|6/7|n.662-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|4/4|n.827-15G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/4|n.153G>A||||||
22	20101233	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|1/3|c.97C>T|p.His33Tyr|99/426|97/424|33/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1648/2473|1332/1932|444/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1721/2964|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|9/13|c.1332C>T|p.Gly444Gly|1694/2928|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1671/2498|1332/1689|444/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1835|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4224|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||532|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||203|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||332|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2228|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2228|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2228|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||3714|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||3814|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||3838|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||3847|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||3943|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4072|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4165|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1839|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1835|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1838|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1838|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1833|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||4526|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||2449|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1057|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||1627|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||1639|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||1867|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||1900|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||2532|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|1/4|n.89C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|6/9|n.765C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|6/8|n.637C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|4/5|n.802C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|3/3|n.319C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|4/4|n.751C>T||||||
22	20102308	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1413/2473|1097/1932|366/643||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1486/2964|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1097T>C|p.Leu366Pro|1459/2928|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1436/2498|1097/1689|366/562||,G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>C|||||2910|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>G|||||3149|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>C|||||1607|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>C|||||1278|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>C|||||987|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>C|||||1407|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>C|||||977|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>G|||||1153|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>G|||||1153|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>G|||||1153|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>G|||||2639|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>G|||||2739|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>G|||||2763|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>G|||||2772|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>G|||||2868|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>G|||||2997|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>G|||||3090|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>G|||||3168|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>G|||||2914|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>G|||||2910|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>G|||||2913|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>G|||||2913|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>G|||||2908|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>G|||||3524|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957T>C|||||552|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>C|||||564|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>C|||||792|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>C|||||825|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>C|||||1457|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.530T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.406T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.567T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.84T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.520T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.564T>C||||||
22	20102330	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1391/2473|1075/1932|359/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1464/2964|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1075A>G|p.Arg359Gly|1437/2928|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1414/2498|1075/1689|359/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||2932|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||3127|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||1629|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||1300|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||1009|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||1429|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||999|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||1131|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||1131|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||1131|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||2617|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||2717|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||2741|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||2750|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||2846|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||2975|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||3146|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||2936|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||2932|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||2935|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||2935|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||2930|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||3546|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||530|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||542|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||770|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||803|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||1435|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.508A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.384A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.545A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.62A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.498A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.542A>G||||||
22	20102855	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.824C>T|p.Pro275Leu|1140/2473|824/1932|275/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.824C>T|p.Pro275Leu|1213/2964|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.824C>T|p.Pro275Leu|1186/2928|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.824C>T|p.Pro275Leu|1163/2498|824/1689|275/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||3457|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||2602|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2154|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1825|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||1534|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1954|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||1524|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||464|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||606|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||606|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||606|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2092|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2192|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2216|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2225|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||2321|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||2450|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||2543|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||2621|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||3461|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||3457|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||3460|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||3460|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||3455|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4071|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||5|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||17|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||245|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||278|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||910|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.257C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.133C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.61C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.291C>T||||||
22	20102871	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.808T>G|p.Cys270Gly|1124/2473|808/1932|270/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.808T>G|p.Cys270Gly|1197/2964|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.808T>G|p.Cys270Gly|1170/2928|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.808T>G|p.Cys270Gly|1147/2498|808/1689|270/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>G|||||3473|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>C|||||2586|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>G|||||2170|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>G|||||1841|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>G|||||1550|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>G|||||1970|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>G|||||1540|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1T>G|||||480|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>C|||||590|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>C|||||590|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>C|||||590|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>C|||||2076|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>C|||||2176|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>C|||||2200|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>C|||||2209|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>C|||||2305|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>C|||||2434|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>C|||||2527|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>C|||||2605|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>C|||||3477|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>C|||||3473|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>C|||||3476|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>C|||||3476|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>C|||||3471|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>C|||||4087|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>G|||||1|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>G|||||229|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>G|||||262|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>G|||||894|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.241T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.117T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.92T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.45T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.275T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.946T>G||||||
22	20103253	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.650G>A|p.Arg217Lys|966/2473|650/1932|217/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.650G>A|p.Arg217Lys|1039/2964|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.650G>A|p.Arg217Lys|1012/2928|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.650G>A|p.Arg217Lys|989/2498|650/1689|217/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3855|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2204|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2552|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2223|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1932|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2352|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1922|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||42|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||291|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||862|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||338|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||108|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||208|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||208|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||208|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1694|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1794|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1818|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1827|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1923|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2052|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2145|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2223|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3859|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3855|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3858|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3858|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3853|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4469|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||512|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.83G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.564G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.114G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.907G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.823G>A||||||
22	20103263	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.640C>A|p.Leu214Ile|956/2473|640/1932|214/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.640C>A|p.Leu214Ile|1029/2964|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.640C>A|p.Leu214Ile|1002/2928|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.640C>A|p.Leu214Ile|979/2498|640/1689|214/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>A|||||3865|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>T|||||2194|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>A|||||2562|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>A|||||2233|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>A|||||1942|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>A|||||2362|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>A|||||1932|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>A|||||52|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>A|||||301|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>A|||||872|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>A|||||348|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>A|||||118|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>T|||||198|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>T|||||198|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>T|||||198|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>T|||||1684|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>T|||||1784|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>T|||||1808|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>T|||||1817|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>T|||||1913|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>T|||||2042|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>T|||||2135|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>T|||||2213|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>T|||||3869|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>T|||||3865|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>T|||||3868|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>T|||||3868|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>T|||||3863|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>T|||||4479|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>A|||||502|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.73C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.554C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.104C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.897C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.813C>A||||||
22	20103604	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.556C>T|p.Arg186Trp|872/2473|556/1932|186/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.556C>T|p.Arg186Trp|945/2964|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.556C>T|p.Arg186Trp|918/2928|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.556C>T|p.Arg186Trp|895/2498|556/1689|186/562||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|4/13|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|3/13|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|3/12|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|2/12|c.556C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.-104G>A|||||104|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-688G>A|||||6577|,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-104G>A|||||104|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4206|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1853|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2903|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2574|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2283|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2703|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2273|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||269|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||393|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||642|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1213|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||689|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||459|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1343|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1443|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1467|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1476|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1572|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1701|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1794|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1872|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4210|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4206|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4209|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4209|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4204|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4820|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||161|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.470C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|1/3|n.20C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.833C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.729C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-104G>A||||||
22	20103736	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.424C>T|p.Arg142Cys|740/2473|424/1932|142/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.424C>T|p.Arg142Cys|813/2964|424/1878|142/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.424C>T|p.Arg142Cys|786/2928|424/1878|142/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.424C>T|p.Arg142Cys|763/2498|424/1689|142/562||,A|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.29G>A|p.Arg10His|276/744|29/497|10/164||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.424C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.424C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-556G>A|||||6445|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4338|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1721|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||3035|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2706|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2415|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2835|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2405|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||401|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||525|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||774|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1345|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||821|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||591|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1C>T|||||113|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1211|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1311|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1335|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1440|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1569|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1662|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4342|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4338|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4341|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4341|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4336|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4952|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||29|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.338C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.701C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.597C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.29G>A||||||
22	20103750	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.410G>A|p.Arg137His|726/2473|410/1932|137/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.410G>A|p.Arg137His|799/2964|410/1878|137/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.410G>A|p.Arg137His|772/2928|410/1878|137/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.410G>A|p.Arg137His|749/2498|410/1689|137/562||,T|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.43C>T|p.Arg15Trp|290/744|43/497|15/164||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.410G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.410G>A||||||,T|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-542C>T|||||6431|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4352|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1707|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3049|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2720|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2429|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2849|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2419|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||415|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||539|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||788|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1359|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||835|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||605|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||127|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1197|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1297|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1321|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1330|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1426|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1555|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1648|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1726|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4356|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4352|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4350|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4966|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.324G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.687G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.583G>A||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.43C>T||||||
22	20103925	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.235A>G|p.Asn79Asp|551/2473|235/1932|79/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.235A>G|p.Asn79Asp|624/2964|235/1878|79/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.235A>G|p.Asn79Asp|597/2928|235/1878|79/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.235A>G|p.Asn79Asp|574/2498|235/1689|79/562||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.218T>C|p.Phe73Ser|465/744|218/497|73/164||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.199A>G|p.Asn67Asp|422/582|199/359|67/118||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+7T>C||||||,C|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+7T>C||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.235A>G||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.235A>G||||||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||4527|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||3224|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||2895|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||2604|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||3024|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||2594|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1A>G|||||590|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1A>G|||||714|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1A>G|||||963|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1A>G|||||1534|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1A>G|||||1010|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1A>G|||||780|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1A>G|||||302|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||1022|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||1122|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||1146|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||1155|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||1251|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||1380|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||1473|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||1551|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||4531|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||4527|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||4530|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||4530|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||4525|,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.149A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.512A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.408A>G||||||
22	20104101	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.59G>A|p.Ser20Asn|375/2473|59/1932|20/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.59G>A|p.Ser20Asn|448/2964|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.59G>A|p.Ser20Asn|421/2928|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.59G>A|p.Ser20Asn|398/2498|59/1689|20/562||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.23G>A|p.Ser8Asn|246/582|23/359|8/118||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4703|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1356|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3400|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||3071|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2780|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||3200|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2770|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||766|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||890|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||1139|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1710|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||1186|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||956|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.-1G>A|||||28|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||478|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||846|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||946|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||970|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||979|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1075|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1204|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1297|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1375|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4707|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4703|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4706|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4706|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4701|,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/2|c.246+148C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+183C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+183C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.336G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.232G>A||||||
22	20112840	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|4/5|c.170T>C|p.Met57Thr|388/832|170/614|57/203||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|5/6|c.50T>C|p.Met17Thr|881/1879|50/546|17/181||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|4/6|c.320T>C|p.Met107Thr|546/1132|320/603|107/200||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|4/6|c.320T>C|p.Met107Thr|422/837|320/606|107/201||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|4/4|c.320T>C|p.Met107Thr|413/584|320/491|107/162||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|4/6|c.170T>C|p.Met57Thr|666/932|170/436|57/144||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|2/4|c.101T>C|p.Met34Thr|101/688|101/387|34/128||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.320T>C||||||,C|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.320T>C||||||,C|3_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/6|n.*412T>C|||||6294|,C|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1T>C|||||1085|,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17T>C|||||4139|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744T>C|||||2940|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699T>C|||||2633|,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645T>C|||||2896|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333T>C|||||2896|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/6|n.*412T>C||||||,C|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/2|n.1179T>C||||||
22	20113005	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding|4/4|c.485C>T|p.Ala162Val|578/584|485/491|162/162||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|2/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|3/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000402752|protein_coding|4/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000402752|protein_coding|4/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|2/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|3/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|domain:RanBD1|ENST00000331821|protein_coding|4/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|5/6|c.439+46C>T||||||,T|sequence_feature|LOW|RANBP1|ENSG00000099901|helix|ENST00000331821|protein_coding|4/6|c.439+46C>T||||||,T|upstream_gene_variant|MODIFIER|SNORA77|ENSG00000264346|transcript|ENST00000578179|snoRNA||n.-1C>T|||||920|,T|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.-17C>T|||||3974|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.*744C>T|||||3105|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.*699C>T|||||2798|,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.*645C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.*333C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding|4/4|c.289+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|5/5|c.169+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|5/5|n.*531+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding|4/5|c.439+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding|4/5|c.439+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding|4/5|c.289+46C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000448394|protein_coding|2/3|c.220+46C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000486575|retained_intron|1/1|n.1298+46C>T||||||
22	20126829	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|2/11|c.217T>C|p.Phe73Leu|217/3112|217/2337|73/778||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|2/4|c.184T>C|p.Phe62Leu|200/557|184/541|62/179||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|2/11|c.217T>C|p.Phe73Leu|358/5046|217/2298|73/765||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|2/9|c.217T>C|p.Phe73Leu|217/3072|217/2022|73/673||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|transmembrane_region:Transmembrane_region|ENST00000405930|protein_coding|2/11|c.217T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|transmembrane_region:Transmembrane_region|ENST00000334554|protein_coding|2/11|c.217T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|transmembrane_region:Transmembrane_region|ENST00000320602|protein_coding|2/9|c.217T>C||||||,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1T>C|||||631|,C|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1T>C|||||1099|,C|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-1311T>C||||||
22	20127267	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|4/11|c.409G>A|p.Val137Ile|409/3112|409/2337|137/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|4/4|c.376G>A|p.Val126Ile|392/557|376/541|126/179||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|4/11|c.409G>A|p.Val137Ile|550/5046|409/2298|137/765||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|2/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000405930|protein_coding|3/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000405930|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000405930|protein_coding|3/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|2/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|3/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000334554|protein_coding|4/11|c.409G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|zinc_finger_region:DHHC-type|ENST00000334554|protein_coding|3/11|c.409G>A||||||,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1G>A|||||193|,A|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1G>A|||||661|,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/8|c.384+109G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-873G>A||||||
22	20127408	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|4/11|c.550A>G|p.Thr184Ala|550/3112|550/2337|184/778||,G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding|4/4|c.517A>G|p.Thr173Ala|533/557|517/541|173/179||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|4/11|c.550A>G|p.Thr184Ala|691/5046|550/2298|184/765||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|5/11|c.550A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000405930|protein_coding|4/11|c.550A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|5/11|c.550A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Lumenal|ENST00000334554|protein_coding|4/11|c.550A>G||||||,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.-1A>G|||||52|,G|upstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.-1A>G|||||520|,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|3/8|c.384+250A>G||||||,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|1/4|n.58-732A>G||||||
22	20128402	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|7/11|c.761T>C|p.Val254Ala|761/3112|761/2337|254/778||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|7/11|c.761T>C|p.Val254Ala|902/5046|761/2298|254/765||,C|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|5/9|c.485T>C|p.Val162Ala|485/3072|485/2022|162/673||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.761T>C||||||,C|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.761T>C||||||,C|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557T>C|||||970|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|3/5|n.158T>C||||||,C|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron|3/4|n.382T>C||||||,C|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|2/5|n.313T>C||||||
22	20128426	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|7/11|c.785C>T|p.Ala262Val|785/3112|785/2337|262/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|7/11|c.785C>T|p.Ala262Val|926/5046|785/2298|262/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|5/9|c.509C>T|p.Ala170Val|509/3072|509/2022|170/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.785C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.785C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||994|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|3/5|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron|3/4|n.406C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|2/5|n.337C>T||||||
22	20128851	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|8/11|c.1006G>A|p.Gly336Ser|1006/3112|1006/2337|336/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|8/11|c.1006G>A|p.Gly336Ser|1147/5046|1006/2298|336/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|6/9|c.730G>A|p.Gly244Ser|730/3072|730/2022|244/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1006G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1006G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2|,A|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|4/5|n.403G>A||||||,A|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|3/5|n.558G>A||||||
22	20128956	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|9/11|c.1028C>T|p.Ser343Leu|1028/3112|1028/2337|343/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|9/11|c.1028C>T|p.Ser343Leu|1169/5046|1028/2298|343/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|7/9|c.752C>T|p.Ser251Leu|752/3072|752/2022|251/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1028C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1028C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||1524|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||107|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|5/5|n.425C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|4/5|n.580C>T||||||
22	20128986	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|9/11|c.1058C>T|p.Ala353Val|1058/3112|1058/2337|353/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|9/11|c.1058C>T|p.Ala353Val|1199/5046|1058/2298|353/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|7/9|c.782C>T|p.Ala261Val|782/3072|782/2022|261/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1058C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1058C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||1554|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||137|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript|5/5|n.455C>T||||||,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|4/5|n.610C>T||||||
22	20130321	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1168C>T|p.Arg390Cys|1168/3112|1168/2337|390/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1168C>T|p.Arg390Cys|1309/5046|1168/2298|390/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.892C>T|p.Arg298Cys|892/3072|892/2022|298/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1168C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1168C>T||||||,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||2889|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1266|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||1472|,T|non_coding_exon_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron|5/5|n.720C>T||||||
22	20130558	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1405G>A|p.Ala469Thr|1405/3112|1405/2337|469/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1405G>A|p.Ala469Thr|1546/5046|1405/2298|469/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1129G>A|p.Ala377Thr|1129/3072|1129/2022|377/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1405G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1405G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3126|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1503|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||1709|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||48|
22	20130654	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1501G>A|p.Val501Met|1501/3112|1501/2337|501/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1501G>A|p.Val501Met|1642/5046|1501/2298|501/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1225G>A|p.Val409Met|1225/3072|1225/2022|409/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1501G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1501G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3222|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1599|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||1805|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||144|
22	20130697	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1544G>A|p.Gly515Asp|1544/3112|1544/2337|515/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1544G>A|p.Gly515Asp|1685/5046|1544/2298|515/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1268G>A|p.Gly423Asp|1268/3072|1268/2022|423/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1544G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1544G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3265|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1642|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||1848|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||187|
22	20130885	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1732G>A|p.Val578Ile|1732/3112|1732/2337|578/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1732G>A|p.Val578Ile|1873/5046|1732/2298|578/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1456G>A|p.Val486Ile|1456/3072|1456/2022|486/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1732G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1732G>A||||||,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3453|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||1830|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2036|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||375|
22	20130955	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1802C>T|p.Ala601Val|1802/3112|1802/2337|601/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1802C>T|p.Ala601Val|1943/5046|1802/2298|601/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1526C>T|p.Ala509Val|1526/3072|1526/2022|509/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1802C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1802C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||4995|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3523|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1900|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2106|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||445|
22	20131018	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1865C>T|p.Pro622Leu|1865/3112|1865/2337|622/778||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1865C>T|p.Pro622Leu|2006/5046|1865/2298|622/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1589C>T|p.Pro530Leu|1589/3072|1589/2022|530/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1865C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1865C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||4932|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557C>T|||||3586|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||1963|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||2169|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||508|
22	20131116	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.1963G>A|p.Ala655Thr|1963/3112|1963/2337|655/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.1963G>A|p.Ala655Thr|2104/5046|1963/2298|655/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1687G>A|p.Ala563Thr|1687/3072|1687/2022|563/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.1963G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.1963G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>T|||||4834|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3684|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||2061|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2267|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||606|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>T|||||4993|
22	20131213	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/11|c.2060G>A|p.Gly687Asp|2060/3112|2060/2337|687/778||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|10/11|c.2060G>A|p.Gly687Asp|2201/5046|2060/2298|687/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|8/9|c.1784G>A|p.Gly595Asp|1784/3072|1784/2022|595/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2060G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2060G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>T|||||4737|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000436518|protein_coding||c.*557G>A|||||3781|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||2158|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||2364|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||703|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>T|||||4896|
22	20132841	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2216G>A|p.Gly739Glu|2357/5046|2216/2298|739/765||,A|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1940G>A|p.Gly647Glu|1940/3072|1940/2022|647/673||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2216G>A||||||,A|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2216G>A||||||,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099C>T|||||3109|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524G>A|||||3786|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625G>A|||||3992|,A|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909G>A|||||2331|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628C>T|||||3268|,A|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660C>T|||||4245|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1562G>A||||||
22	20132858	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2233A>G|p.Thr745Ala|2374/5046|2233/2298|745/765||,G|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1957A>G|p.Thr653Ala|1957/3072|1957/2022|653/673||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2233A>G||||||,G|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2233A>G||||||,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099T>C|||||3092|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524A>G|||||3803|,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625A>G|||||4009|,G|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909A>G|||||2348|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628T>C|||||3251|,G|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660T>C|||||4228|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1579A>G||||||
22	20132861	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000334554|protein_coding|11/11|c.2236C>T|p.Arg746Trp|2377/5046|2236/2298|746/765||,T|missense_variant|MODERATE|ZDHHC8|ENSG00000099904|transcript|ENST00000320602|protein_coding|9/9|c.1960C>T|p.Arg654Trp|1960/3072|1960/2022|654/673||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|5/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|10/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|6/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|9/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|11/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|8/11|c.2236C>T||||||,T|sequence_feature|LOW|ZDHHC8|ENSG00000099904|topological_domain:Cytoplasmic|ENST00000334554|protein_coding|7/11|c.2236C>T||||||,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000439765|protein_coding||c.*1099G>A|||||3089|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000468112|processed_transcript||n.*524C>T|||||3806|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000469212|retained_intron||n.*625C>T|||||4012|,T|downstream_gene_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000472497|retained_intron||n.*909C>T|||||2351|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000444532|retained_intron||n.*628G>A|||||3248|,T|downstream_gene_variant|MODIFIER|AC006547.14|ENSG00000234409|transcript|ENST00000540078|protein_coding||c.*660G>A|||||4225|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ZDHHC8|ENSG00000099904|transcript|ENST00000405930|protein_coding|10/10|c.2126+1582C>T||||||
22	20229461	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1450C>T|p.Arg484Trp|1452/1973|1450/1677|484/558||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1252C>T|p.Arg418Trp|1254/1777|1252/1479|418/492||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1195C>T|p.Arg399Trp|1634/2157|1195/1422|399/473||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672C>T|||||659|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||911|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||1082|
22	20229569	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1342G>A|p.Val448Met|1344/1973|1342/1677|448/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1144G>A|p.Val382Met|1146/1777|1144/1479|382/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1087G>A|p.Val363Met|1526/2157|1087/1422|363/473||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>A|||||551|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||803|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||974|
22	20229635	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1276G>T|p.Ala426Ser|1278/1973|1276/1677|426/558||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.1078G>T|p.Ala360Ser|1080/1777|1078/1479|360/492||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.1021G>T|p.Ala341Ser|1460/2157|1021/1422|341/473||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>T|||||485|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>T|||||737|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>T|||||908|
22	20229716	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.1195G>A|p.Gly399Ser|1197/1973|1195/1677|399/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.997G>A|p.Gly333Ser|999/1777|997/1479|333/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.940G>A|p.Gly314Ser|1379/2157|940/1422|314/473||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>A|||||404|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||656|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||827|
22	20230007	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.904G>C|p.Val302Leu|906/1973|904/1677|302/558||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.706G>C|p.Val236Leu|708/1777|706/1479|236/492||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.649G>C|p.Val217Leu|1088/2157|649/1422|217/473||,G|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_7|ENST00000043402|protein_coding|2/2|c.649G>C||||||,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript||n.*672G>C|||||113|,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>C|||||365|,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>C|||||536|
22	20230163	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.748G>A|p.Ala250Thr|750/1973|748/1677|250/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.550G>A|p.Ala184Thr|552/1777|550/1479|184/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.493G>A|p.Ala165Thr|932/2157|493/1422|165/473||,T|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_5|ENST00000043402|protein_coding|2/2|c.493G>A||||||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||209|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||380|,T|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.629G>A||||||
22	20230264	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.647G>A|p.Arg216His|649/1973|647/1677|216/558||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.449G>A|p.Arg150His|451/1777|449/1479|150/492||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.392G>A|p.Arg131His|831/2157|392/1422|131/473||,T|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_4|ENST00000043402|protein_coding|2/2|c.392G>A||||||,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559G>A|||||108|,T|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458G>A|||||279|,T|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.528G>A||||||
22	20230301	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.610C>T|p.Arg204Trp|612/1973|610/1677|204/558||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.412C>T|p.Arg138Trp|414/1777|412/1479|138/492||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.355C>T|p.Arg119Trp|794/2157|355/1422|119/473||,A|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_3|ENST00000043402|protein_coding|2/2|c.355C>T||||||,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript||n.*559C>T|||||71|,A|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458C>T|||||242|,A|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.491C>T||||||
22	20230390	.	T	G	.	.	ANN=G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000425986|protein_coding|2/2|c.521A>C|p.His174Pro|523/1973|521/1677|174/558||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000416372|protein_coding|2/2|c.323A>C|p.His108Pro|325/1777|323/1479|108/492||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTN4R|ENSG00000040608|transcript|ENST00000043402|protein_coding|2/2|c.266A>C|p.His89Pro|705/2157|266/1422|89/473||,G|sequence_feature|LOW|RTN4R|ENSG00000040608|repeat:LRR_2|ENST00000043402|protein_coding|2/2|c.266A>C||||||,G|downstream_gene_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000463936|processed_transcript||n.*458A>C|||||153|,G|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000469601|processed_transcript|2/2|n.402A>C||||||,G|non_coding_exon_variant|MODIFIER|RTN4R|ENSG00000040608|transcript|ENST00000474642|processed_transcript|3/3|n.541A>C||||||
22	20302276	.	A	T	.	.	ANN=T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|5/5|c.585T>A|p.Asn195Lys|677/1154|585/663|195/220||,T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|4/4|c.471T>A|p.Asn157Lys|492/962|471/549|157/182||,T|3_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|4/4|n.*190T>A|||||701|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240A>T|||||1537|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631T>A|||||3366|,T|non_coding_exon_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|4/4|n.*190T>A||||||
22	20302968	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|4/5|c.404G>A|p.Arg135Gln|496/1154|404/663|135/220||,T|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|3/4|c.290G>A|p.Arg97Gln|311/962|290/549|97/182||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.404G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.404G>A||||||,T|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.404G>A||||||,T|3_prime_UTR_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|3/4|n.*9G>A|||||9|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240C>T|||||2229|,T|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631G>A|||||2674|,T|non_coding_exon_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|3/4|n.*9G>A||||||
22	20303664	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DGCR6L|ENSG00000128185|transcript|ENST00000248879|protein_coding|3/5|c.350C>T|p.Ala117Val|442/1154|350/663|117/220||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|3/5|c.350C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|2/5|c.350C>T||||||,A|sequence_feature|LOW|DGCR6L|ENSG00000128185|coiled-coil_region|ENST00000248879|protein_coding|4/5|c.350C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B444P24.14|ENSG00000273139|transcript|ENST00000609632|lincRNA||n.-1G>A|||||4598|,A|downstream_gene_variant|MODIFIER|XXbac-B444P24.10|ENSG00000161132|transcript|ENST00000438948|unprocessed_pseudogene||n.*1240G>A|||||2925|,A|downstream_gene_variant|MODIFIER|XXbac-B444P24.13|ENSG00000273343|transcript|ENST00000608275|sense_intronic||n.*631C>T|||||1978|,A|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000405465|protein_coding|2/3|c.259-665C>T||||||,A|intron_variant|MODIFIER|DGCR6L|ENSG00000128185|transcript|ENST00000443409|nonsense_mediated_decay|2/3|n.272-665C>T||||||
22	20748934	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|2/6|c.16C>T|p.Pro6Ser|228/2503|16/1935|6/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|1/5|c.16C>T|p.Pro6Ser|530/3159|16/1935|6/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|1/4|c.16C>T|p.Pro6Ser|517/2789|16/537|6/178||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/2|c.16C>T|p.Pro6Ser|456/591|16/151|6/49||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|1/4|c.16C>T|p.Pro6Ser|16/1839|16/1839|6/612||,T|upstream_gene_variant|MODIFIER|USP41|ENSG00000161133|transcript|ENST00000454608|protein_coding||c.-1G>A|||||3886|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron||n.-1C>T|||||4867|,T|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|1/4|c.50+310C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|1/4|n.457C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|1/6|n.16C>T||||||
22	20749694	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|3/6|c.106G>A|p.Glu36Lys|318/2503|106/1935|36/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|2/5|c.106G>A|p.Glu36Lys|620/3159|106/1935|36/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|2/5|c.122G>A|p.Arg41Gln|246/2788|122/639|41/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|2/4|c.106G>A|p.Glu36Lys|106/1839|106/1839|36/612||,A|upstream_gene_variant|MODIFIER|USP41|ENSG00000161133|transcript|ENST00000454608|protein_coding||c.-1C>T|||||4646|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron||n.-1G>A|||||4107|,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|1/3|c.34+742G>A||||||,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.34+742G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|1/4|n.1217G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|2/6|n.106G>A||||||
22	20755631	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|5/6|c.312G>A|p.Met104Ile|524/2503|312/1935|104/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|4/5|c.312G>A|p.Met104Ile|826/3159|312/1935|104/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|3/4|c.226G>A|p.Ala76Thr|727/2789|226/537|76/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|4/5|c.328G>A|p.Ala110Thr|452/2788|328/639|110/212||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|4/6|c.312G>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|domain:KRAB|ENST00000356671|protein_coding|5/6|c.312G>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|5/6|n.*198G>A|||||1657|,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|1/1|c.35-4036G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|3/3|c.247+583G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|3/4|n.1423G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|5/6|n.*198G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|1/2|n.1831G>A||||||
22	20759672	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.349G>A|p.Glu117Lys|561/2503|349/1935|117/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.349G>A|p.Glu117Lys|863/3159|349/1935|117/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.263G>A|p.Gly88Glu|764/2789|263/537|88/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.365G>A|p.Gly122Glu|489/2788|365/639|122/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding|2/2|c.40G>A|p.Glu14Lys|480/591|40/151|14/49||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.253G>A|p.Glu85Lys|253/1839|253/1839|85/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*235G>A|||||5698|,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1460G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*235G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.1868G>A||||||
22	20759804	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.481G>A|p.Ala161Thr|693/2503|481/1935|161/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.481G>A|p.Ala161Thr|995/3159|481/1935|161/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.395G>A|p.Gly132Asp|896/2789|395/537|132/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.497G>A|p.Gly166Asp|621/2788|497/639|166/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.385G>A|p.Ala129Thr|385/1839|385/1839|129/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*367G>A|||||5830|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1592G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*367G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2000G>A||||||
22	20759825	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.502C>A|p.Pro168Thr|714/2503|502/1935|168/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.502C>A|p.Pro168Thr|1016/3159|502/1935|168/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.416C>A|p.Thr139Asn|917/2789|416/537|139/178||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.518C>A|p.Thr173Asn|642/2788|518/639|173/212||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.406C>A|p.Pro136Thr|406/1839|406/1839|136/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*388C>A|||||5851|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1613C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*388C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2021C>A||||||
22	20759967	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.644C>T|p.Ala215Val|856/2503|644/1935|215/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.644C>T|p.Ala215Val|1158/3159|644/1935|215/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.548C>T|p.Ala183Val|548/1839|548/1839|183/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*530C>T|||||5993|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||184|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1755C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*530C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2163C>T||||||
22	20760074	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.751G>T|p.Gly251Cys|963/2503|751/1935|251/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.751G>T|p.Gly251Cys|1265/3159|751/1935|251/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.655G>T|p.Gly219Cys|655/1839|655/1839|219/612||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_1|ENST00000356671|protein_coding|6/6|c.751G>T||||||,T|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_1|ENST00000405993|protein_coding|4/4|c.655G>T||||||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*128G>T|||||128|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*128G>T|||||128|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*637G>T|||||6100|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>T|||||291|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.1862G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*637G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2270G>T||||||
22	20760516	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1193C>A|p.Thr398Asn|1405/2503|1193/1935|398/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1193C>A|p.Thr398Asn|1707/3159|1193/1935|398/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1097C>A|p.Thr366Asn|1097/1839|1097/1839|366/612||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_6|ENST00000356671|protein_coding|6/6|c.1193C>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_6|ENST00000405993|protein_coding|4/4|c.1097C>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*570C>A|||||570|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*570C>A|||||570|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1079C>A|||||6542|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>A|||||733|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2304C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1079C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2712C>A||||||
22	20760795	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1472G>A|p.Arg491Gln|1684/2503|1472/1935|491/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1472G>A|p.Arg491Gln|1986/3159|1472/1935|491/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1376G>A|p.Arg459Gln|1376/1839|1376/1839|459/612||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_9|ENST00000356671|protein_coding|6/6|c.1472G>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_9|ENST00000405993|protein_coding|4/4|c.1376G>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*849G>A|||||849|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*849G>A|||||849|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1358G>A|||||6821|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||1012|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2583G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1358G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.2991G>A||||||
22	20760977	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1654G>A|p.Gly552Arg|1866/2503|1654/1935|552/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1654G>A|p.Gly552Arg|2168/3159|1654/1935|552/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1558G>A|p.Gly520Arg|1558/1839|1558/1839|520/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1031G>A|||||1031|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1031G>A|||||1031|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1540G>A|||||7003|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>A|||||1194|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2765G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1540G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3173G>A||||||
22	20761028	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1705T>C|p.Ser569Pro|1917/2503|1705/1935|569/644||,C|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1705T>C|p.Ser569Pro|2219/3159|1705/1935|569/644||,C|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1609T>C|p.Ser537Pro|1609/1839|1609/1839|537/612||,C|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1705T>C||||||,C|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1609T>C||||||,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1082T>C|||||1082|,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1082T>C|||||1082|,C|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1591T>C|||||7054|,C|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591T>C|||||1245|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2816T>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1591T>C||||||,C|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3224T>C||||||
22	20761033	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1710C>A|p.His570Gln|1922/2503|1710/1935|570/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1710C>A|p.His570Gln|2224/3159|1710/1935|570/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1614C>A|p.His538Gln|1614/1839|1614/1839|538/612||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1710C>A||||||,A|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1614C>A||||||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1087C>A|||||1087|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1087C>A|||||1087|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1596C>A|||||7059|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>A|||||1250|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2821C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1596C>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3229C>A||||||
22	20761052	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1729C>G|p.Leu577Val|1941/2503|1729/1935|577/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1729C>G|p.Leu577Val|2243/3159|1729/1935|577/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1633C>G|p.Leu545Val|1633/1839|1633/1839|545/612||,G|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000356671|protein_coding|6/6|c.1729C>G||||||,G|sequence_feature|LOW|ZNF74|ENSG00000185252|zinc_finger_region:C2H2-type_12|ENST00000405993|protein_coding|4/4|c.1633C>G||||||,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1106C>G|||||1106|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1106C>G|||||1106|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1615C>G|||||7078|,G|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>G|||||1269|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2840C>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1615C>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3248C>G||||||
22	20761079	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1756A>G|p.Ile586Val|1968/2503|1756/1935|586/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1756A>G|p.Ile586Val|2270/3159|1756/1935|586/644||,G|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1660A>G|p.Ile554Val|1660/1839|1660/1839|554/612||,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1133A>G|||||1133|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1133A>G|||||1133|,G|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1642A>G|||||7105|,G|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591A>G|||||1296|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2867A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1642A>G||||||,G|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3275A>G||||||
22	20761112	.	T	A	.	.	ANN=A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1789T>A|p.Tyr597Asn|2001/2503|1789/1935|597/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1789T>A|p.Tyr597Asn|2303/3159|1789/1935|597/644||,A|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1693T>A|p.Tyr565Asn|1693/1839|1693/1839|565/612||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1166T>A|||||1166|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1166T>A|||||1166|,A|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1675T>A|||||7138|,A|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591T>A|||||1329|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2900T>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1675T>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3308T>A||||||
22	20761192	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1869G>T|p.Lys623Asn|2081/2503|1869/1935|623/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1869G>T|p.Lys623Asn|2383/3159|1869/1935|623/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1773G>T|p.Lys591Asn|1773/1839|1773/1839|591/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1246G>T|||||1246|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1246G>T|||||1246|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1755G>T|||||7218|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591G>T|||||1409|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2980G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1755G>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3388G>T||||||
22	20761193	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000356671|protein_coding|6/6|c.1870C>T|p.Leu624Phe|2082/2503|1870/1935|624/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000400451|protein_coding|5/5|c.1870C>T|p.Leu624Phe|2384/3159|1870/1935|624/644||,T|missense_variant|MODERATE|ZNF74|ENSG00000185252|transcript|ENST00000405993|protein_coding|4/4|c.1774C>T|p.Leu592Phe|1774/1839|1774/1839|592/612||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000403682|protein_coding|4/4|c.*1247C>T|||||1247|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000357502|protein_coding|5/5|c.*1247C>T|||||1247|,T|3_prime_UTR_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1756C>T|||||7219|,T|downstream_gene_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000420626|protein_coding||c.*591C>T|||||1410|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000493734|retained_intron|4/4|n.2981C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000437275|nonsense_mediated_decay|6/6|n.*1756C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ENSG00000185252|transcript|ENST00000476678|retained_intron|2/2|n.3389C>T||||||
22	20779768	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2510C>G|p.Ala837Gly|2615/3278|2510/2613|837/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2495C>G|p.Ala832Gly|2566/3460|2495/2598|832/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2510C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2495C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||606|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3760|
22	20779822	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2456C>G|p.Ala819Gly|2561/3278|2456/2613|819/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2441C>G|p.Ala814Gly|2512/3460|2441/2598|814/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2456C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2441C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||552|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3706|
22	20779892	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2386G>A|p.Gly796Ser|2491/3278|2386/2613|796/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2371G>A|p.Gly791Ser|2442/3460|2371/2598|791/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2386G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2371G>A||||||,T|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780G>A|||||482|,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196G>A|||||3636|
22	20779947	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2331C>G|p.Asp777Glu|2436/3278|2331/2613|777/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2316C>G|p.Asp772Glu|2387/3460|2316/2598|772/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2331C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2316C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||427|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3581|
22	20780029	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.2249C>G|p.Ala750Gly|2354/3278|2249/2613|750/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.2234C>G|p.Ala745Gly|2305/3460|2234/2598|745/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.2249C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.2234C>G||||||,C|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>G|||||345|,C|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>G|||||3499|
22	20780296	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.1982C>T|p.Pro661Leu|2087/3278|1982/2613|661/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.1967C>T|p.Pro656Leu|2038/3460|1967/2598|656/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000266214|protein_coding|11/11|c.1982C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|compositionally_biased_region:Pro-rich|ENST00000405555|protein_coding|11/11|c.1967C>T||||||,A|downstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.*780C>T|||||78|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||3232|
22	20780474	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|11/11|c.1804G>A|p.Glu602Lys|1909/3278|1804/2613|602/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|11/11|c.1789G>A|p.Glu597Lys|1860/3460|1789/2598|597/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1804G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1804G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1804G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1804G>A||||||,T|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196G>A|||||3054|,T|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|5/5|n.680G>A||||||
22	20781732	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|10/11|c.1661C>T|p.Ser554Leu|1766/3278|1661/2613|554/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|10/11|c.1646C>T|p.Ser549Leu|1717/3460|1646/2598|549/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1661C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1661C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1661C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1661C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.*196C>T|||||1796|,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|4/5|n.537C>T||||||
22	20783575	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|9/11|c.1492A>G|p.Ser498Gly|1597/3278|1492/2613|498/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|9/11|c.1477A>G|p.Ser493Gly|1548/3460|1477/2598|493/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|9/11|c.1492A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|10/11|c.1492A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|11/11|c.1492A>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Cytoplasmic|ENST00000266214|protein_coding|8/11|c.1492A>G||||||,C|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|5/5|n.*401A>G|||||1252|,C|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|3/5|n.368A>G||||||,C|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|5/5|n.*401A>G||||||
22	20784050	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|7/11|c.1273A>T|p.Thr425Ser|1378/3278|1273/2613|425/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|7/11|c.1273A>T|p.Thr425Ser|1344/3460|1273/2598|425/865||,A|TF_binding_site_variant|LOW|||Max|MA0058.1|||||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1273A>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1273A>T||||||,A|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|3/5|n.*182A>T|||||777|,A|TF_binding_site_variant|MODIFIER|||Cmyc|MA0147.1|||||||||,A|non_coding_exon_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron|1/5|n.164A>T||||||,A|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|3/5|n.*182A>T||||||
22	20784797	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|6/11|c.1121T>C|p.Phe374Ser|1226/3278|1121/2613|374/870||,G|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|6/11|c.1121T>C|p.Phe374Ser|1192/3460|1121/2598|374/865||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000266214|protein_coding|7/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|6/11|c.1121T>C||||||,G|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_7|ENST00000405555|protein_coding|7/11|c.1121T>C||||||,G|3_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|2/5|n.*30T>C|||||30|,G|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1T>C|||||584|,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|2/5|n.*30T>C||||||
22	20785533	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|4/11|c.626G>A|p.Arg209His|731/3278|626/2613|209/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|4/11|c.626G>A|p.Arg209His|697/3460|626/2598|209/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_4|ENST00000266214|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_4|ENST00000405555|protein_coding|4/11|c.626G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|4/11|c.626G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1G>A|||||1320|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-689G>A||||||
22	20785639	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|4/11|c.520C>T|p.Pro174Ser|625/3278|520/2613|174/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|4/11|c.520C>T|p.Pro174Ser|591/3460|520/2598|174/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_3|ENST00000266214|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_3|ENST00000405555|protein_coding|4/11|c.520C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|4/11|c.520C>T||||||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>T|||||1426|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-795C>T||||||
22	20786125	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|3/11|c.241G>A|p.Glu81Lys|346/3278|241/2613|81/870||,T|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|3/11|c.241G>A|p.Glu81Lys|312/3460|241/2598|81/865||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000266214|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000266214|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000266214|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000405555|protein_coding|2/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|domain:EGF-like_1|ENST00000405555|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|3/11|c.241G>A||||||,T|sequence_feature|LOW|SCARF2|ENSG00000244486|disulfide_bond|ENST00000405555|protein_coding|2/11|c.241G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1G>A|||||1912|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-1281G>A||||||
22	20786271	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|2/11|c.178C>G|p.Gln60Glu|283/3278|178/2613|60/870||,C|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|2/11|c.178C>G|p.Gln60Glu|249/3460|178/2598|60/865||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|5/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|6/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|7/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|2/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|8/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|3/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|4/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000266214|protein_coding|1/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|5/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|6/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|7/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|2/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|8/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|3/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|4/11|c.178C>G||||||,C|sequence_feature|LOW|SCARF2|ENSG00000244486|topological_domain:Extracellular|ENST00000405555|protein_coding|1/11|c.178C>G||||||,C|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000494535|retained_intron||n.-1C>G|||||2058|,C|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-1427C>G||||||
22	20791966	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding|1/11|c.76C>T|p.Pro26Ser|181/3278|76/2613|26/870||,A|missense_variant|MODERATE|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding|1/11|c.76C>T|p.Pro26Ser|147/3460|76/2598|26/865||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|signal_peptide|ENST00000266214|protein_coding|1/11|c.76C>T||||||,A|sequence_feature|LOW|SCARF2|ENSG00000244486|signal_peptide|ENST00000405555|protein_coding|1/11|c.76C>T||||||,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding||c.*2062C>T|||||3840|,A|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding||c.*1808C>T|||||3982|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.178-7122C>T||||||
22	20796458	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1807C>T|p.Arg603Cys|1964/2616|1807/1905|603/634||,A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1378C>T|p.Arg460Cys|1710/2220|1378/1476|460/491||,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106C>T|||||4312|,A|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72C>T|||||4346|,A|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4272C>T||||||
22	20796662	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|7/7|c.1603G>A|p.Gly535Ser|1760/2616|1603/1905|535/634||,T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|6/6|c.1174G>A|p.Gly392Ser|1506/2220|1174/1476|392/491||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1603G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1603G>A||||||,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000266214|protein_coding||c.-106G>A|||||4516|,T|upstream_gene_variant|MODIFIER|SCARF2|ENSG00000244486|transcript|ENST00000405555|protein_coding||c.-72G>A|||||4550|,T|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/4|n.177+4068G>A||||||
22	20800738	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1531G>A|p.Val511Met|1688/2616|1531/1905|511/634||,T|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.1102G>A|p.Val368Met|1434/2220|1102/1476|368/491||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|6/7|c.1531G>A||||||,T|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_5|ENST00000328879|protein_coding|7/7|c.1531G>A||||||,T|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1C>T|||||3671|,T|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/5|n.169G>A||||||
22	20800848	.	T	C	.	.	ANN=C|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1421A>G|p.His474Arg|1578/2616|1421/1905|474/634||,C|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.992A>G|p.His331Arg|1324/2220|992/1476|331/491||,C|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_4|ENST00000328879|protein_coding|6/7|c.1421A>G||||||,C|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1T>C|||||3561|,C|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay|1/5|n.59A>G||||||
22	20800941	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|6/7|c.1328C>T|p.Thr443Met|1485/2616|1328/1905|443/634||,A|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|5/6|c.899C>T|p.Thr300Met|1231/2220|899/1476|300/491||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|6/7|c.1328C>T||||||,A|sequence_feature|LOW|KLHL22|ENSG00000099910|repeat:Kelch_3|ENST00000328879|protein_coding|5/7|c.1328C>T||||||,A|upstream_gene_variant|MODIFIER|XXbac-B562F10.11|ENSG00000215493|transcript|ENST00000426448|processed_pseudogene||n.-1G>A|||||3468|,A|upstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000429594|nonsense_mediated_decay||n.-2C>T|||||34|
22	20819577	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|4/7|c.680T>C|p.Val227Ala|837/2616|680/1905|227/634||,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|3/6|c.251T>C|p.Val84Ala|583/2220|251/1476|84/491||,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|3/3|c.449T>C|p.Val150Ala|496/724|449/677|150/224||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|6/6|c.776T>C|p.Val259Ala|935/1045|776/886|259/294||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|4/4|c.680T>C|p.Val227Ala|717/742|680/705|227/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding||c.*792T>C|||||27|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript||n.*550T>C|||||102|,G|downstream_gene_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding||c.*572T>C|||||252|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000487090|processed_transcript|1/2|n.153+44T>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|4/5|n.746T>C||||||
22	20843315	.	C	G	.	.	ANN=G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000328879|protein_coding|2/7|c.184G>C|p.Glu62Gln|341/2616|184/1905|62/634||,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000444967|protein_coding|4/6|c.280G>C|p.Glu94Gln|439/1045|280/886|94/294||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000458248|protein_coding|2/4|c.184G>C|p.Glu62Gln|221/742|184/705|62/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000443285|protein_coding|3/5|c.286G>C|p.Glu96Gln|323/792|286/755|96/250||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000431430|protein_coding|2/4|c.184G>C|p.Glu62Gln|281/572|184/475|62/157||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|KLHL22|ENSG00000099910|transcript|ENST00000423364|protein_coding|3/3|c.280G>C|p.Glu94Gln|726/769|280/323|94/106||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|2/7|c.184G>C||||||,G|sequence_feature|LOW|KLHL22|ENSG00000099910|domain:BTB|ENST00000328879|protein_coding|3/7|c.184G>C||||||,G|5_prime_UTR_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000440659|protein_coding|2/6|c.-80G>C|||||23488|,G|upstream_gene_variant|MODIFIER|KRT18P5|ENSG00000236670|transcript|ENST00000436075|processed_pseudogene||n.-1G>C|||||4923|,G|intron_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000451553|protein_coding|1/2|c.-5+6732G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000479601|retained_intron|2/5|n.250G>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000494929|processed_transcript|2/3|n.275G>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000470335|processed_transcript|2/3|n.302G>C||||||,G|non_coding_exon_variant|MODIFIER|KLHL22|ENSG00000099910|transcript|ENST00000490556|processed_transcript|2/2|n.211G>C||||||
22	20909255	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.271G>A|p.Gly91Arg|340/3351|271/2367|91/788||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.193G>A|p.Gly65Arg|423/590|193/360|65/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.193G>A|p.Gly65Arg|486/717|193/424|65/140||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.271G>A|p.Gly91Arg|348/3252|271/2247|91/748||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.193G>A|p.Gly65Arg|321/3210|193/2169|65/722||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.193G>A|p.Gly65Arg|596/2703|193/2169|65/722||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.193G>A|p.Gly65Arg|416/596|193/373|65/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.193G>A|p.Gly65Arg|295/418|193/316|65/104||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.154G>A|p.Gly52Arg|295/623|154/482|52/159||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.130G>A|p.Gly44Arg|222/589|130/497|44/164||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/7|c.172G>A|p.Gly58Arg|173/581|172/580|58/192||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*24G>A|||||24|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*114G>A|||||3532|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*189G>A|||||17838|,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*190G>A|||||2386|,A|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577G>A|||||3220|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1794G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1794G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9482G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1794G>A||||||,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1794G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*24G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*114G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.374G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*189G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.201G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*190G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.144G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.111G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.730G>A||||||
22	20909294	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.310C>T|p.Arg104Trp|379/3351|310/2367|104/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.232C>T|p.Arg78Trp|462/590|232/360|78/119||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.232C>T|p.Arg78Trp|525/717|232/424|78/140||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.310C>T|p.Arg104Trp|387/3252|310/2247|104/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.232C>T|p.Arg78Trp|360/3210|232/2169|78/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.232C>T|p.Arg78Trp|635/2703|232/2169|78/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.232C>T|p.Arg78Trp|455/596|232/373|78/123||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.232C>T|p.Arg78Trp|334/418|232/316|78/104||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.193C>T|p.Arg65Trp|334/623|193/482|65/159||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.169C>T|p.Arg57Trp|261/589|169/497|57/164||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*63C>T|||||63|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*153C>T|||||3571|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*228C>T|||||17877|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*229C>T|||||2425|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>T|||||3259|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1833C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1833C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9443C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1833C>T||||||,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1833C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/6|c.199+12C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*63C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*153C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.413C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*228C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.240C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*229C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.183C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.150C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.769C>T||||||
22	20909330	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|5/18|c.346C>G|p.Leu116Val|415/3351|346/2367|116/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445987|protein_coding|6/6|c.268C>G|p.Leu90Val|498/590|268/360|90/119||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|6/7|c.268C>G|p.Leu90Val|561/717|268/424|90/140||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|5/17|c.346C>G|p.Leu116Val|423/3252|346/2247|116/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|5/17|c.268C>G|p.Leu90Val|396/3210|268/2169|90/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|5/17|c.268C>G|p.Leu90Val|671/2703|268/2169|90/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000445189|protein_coding|5/5|c.268C>G|p.Leu90Val|491/596|268/373|90/123||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000451058|protein_coding|5/5|c.268C>G|p.Leu90Val|370/418|268/316|90/104||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|4/5|c.229C>G|p.Leu77Val|370/623|229/482|77/159||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|4/5|c.205C>G|p.Leu69Val|297/589|205/497|69/164||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*99C>G|||||99|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*189C>G|||||3607|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*264C>G|||||17913|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*265C>G|||||2461|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000486656|retained_intron||n.*577C>G|||||3295|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|5/5|c.160+1869C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|4/15|c.118+1869C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|2/10|c.-134-9407C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|4/15|c.238+1869C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|3/3|c.97+1869C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|4/6|c.200-34C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|3/4|n.*99C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|5/17|n.*189C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript|4/5|n.449C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|5/6|n.*264C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|3/4|n.276C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000420849|nonsense_mediated_decay|5/5|n.*265C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|3/5|n.219C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|2/4|n.186C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|1/13|n.805C>G||||||
22	20918779	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|6/18|c.494A>G|p.Gln165Arg|563/3351|494/2367|165/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding|7/7|c.416A>G|p.Gln139Arg|709/717|416/424|139/140||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|6/6|c.203A>G|p.Gln68Arg|484/598|203/317|68/104||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|5/16|c.161A>G|p.Gln54Arg|361/3041|161/1914|54/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|6/17|c.494A>G|p.Gln165Arg|571/3252|494/2247|165/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|6/17|c.416A>G|p.Gln139Arg|544/3210|416/2169|139/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|5/16|c.281A>G|p.Gln94Arg|319/2235|281/2034|94/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|6/17|c.416A>G|p.Gln139Arg|819/2703|416/2169|139/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|5/5|c.377A>G|p.Gln126Arg|518/623|377/482|126/159||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|4/4|c.140A>G|p.Gln47Arg|466/572|140/246|47/81||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|5/5|c.353A>G|p.Gln118Arg|445/589|353/497|118/164||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|6/7|c.314A>G|p.Gln105Arg|315/581|314/580|105/192||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|4/4|n.*247A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|6/18|c.494A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|6/17|c.494A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|5/16|c.281A>G||||||,G|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/11|c.-92A>G|||||92|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay|4/4|n.*247A>G|||||9548|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*337A>G|||||13056|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*412A>G|||||27362|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.-1A>G|||||1973|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>G|||||26|,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*337A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*412A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|4/4|n.424A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|4/5|n.367A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|3/4|n.334A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|2/13|n.953A>G||||||
22	20918794	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|6/18|c.509A>T|p.Gln170Leu|578/3351|509/2367|170/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding|6/6|c.218A>T|p.Gln73Leu|499/598|218/317|73/104||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|5/16|c.176A>T|p.Gln59Leu|376/3041|176/1914|59/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|6/17|c.509A>T|p.Gln170Leu|586/3252|509/2247|170/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|6/17|c.431A>T|p.Gln144Leu|559/3210|431/2169|144/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|5/16|c.296A>T|p.Gln99Leu|334/2235|296/2034|99/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|6/17|c.431A>T|p.Gln144Leu|834/2703|431/2169|144/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding|5/5|c.392A>T|p.Gln131Leu|533/623|392/482|131/159||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding|4/4|c.155A>T|p.Gln52Leu|481/572|155/246|52/81||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding|5/5|c.368A>T|p.Gln123Leu|460/589|368/497|123/164||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding|6/7|c.329A>T|p.Gln110Leu|330/581|329/580|110/192||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*427A>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/11|c.-77A>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000263205|protein_coding|6/18|c.509A>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000292733|protein_coding|6/17|c.509A>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Gln|ENST00000382974|protein_coding|5/16|c.296A>T||||||,T|5_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|3/11|c.-77A>T|||||77|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*352A>T|||||13071|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay|6/6|n.*427A>T|||||27377|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.-1A>T|||||1958|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303A>T|||||14|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717A>T|||||7|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>T|||||41|,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|6/17|n.*352A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript|4/4|n.439A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript|4/5|n.382A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron|3/4|n.349A>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|2/13|n.968A>T||||||
22	20921025	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|7/18|c.962A>G|p.Gln321Arg|1031/3351|962/2367|321/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|6/16|c.629A>G|p.Gln210Arg|829/3041|629/1914|210/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|7/17|c.962A>G|p.Gln321Arg|1039/3252|962/2247|321/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|4/11|c.377A>G|p.Gln126Arg|742/2149|377/570|126/189||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|7/17|c.884A>G|p.Gln295Arg|1012/3210|884/2169|295/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|6/16|c.749A>G|p.Gln250Arg|787/2235|749/2034|250/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|7/17|c.884A>G|p.Gln295Arg|1287/2703|884/2169|295/722||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.962A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.962A>G||||||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*805A>G|||||15302|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303A>G|||||2245|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717A>G|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598A>G|||||2132|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>G|||||2272|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411A>G|||||2229|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556A>G|||||2114|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623A>G|||||2141|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572A>G|||||2140|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589A>G|||||2102|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding||c.*581A>G|||||202|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587A>G|||||248|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590A>G|||||212|,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|7/17|n.*805A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|3/13|n.1421A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|1/4|n.274A>G||||||
22	20922898	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|8/18|c.1132A>C|p.Met378Leu|1201/3351|1132/2367|378/788||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|7/16|c.799A>C|p.Met267Leu|999/3041|799/1914|267/637||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|8/17|c.1132A>C|p.Met378Leu|1209/3252|1132/2247|378/748||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/11|c.547A>C|p.Met183Leu|912/2149|547/570|183/189||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|8/17|c.1054A>C|p.Met352Leu|1182/3210|1054/2169|352/722||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|7/16|c.919A>C|p.Met307Leu|957/2235|919/2034|307/677||,C|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|8/17|c.1054A>C|p.Met352Leu|1457/2703|1054/2169|352/722||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1132A>C||||||,C|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1132A>C||||||,C|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/17|n.*975A>C|||||17175|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000444094|nonsense_mediated_decay||n.*303A>C|||||4118|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000414658|protein_coding||c.*717A>C|||||4111|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000432052|protein_coding||c.*598A>C|||||4005|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000477824|processed_transcript||n.*571A>C|||||4145|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000441501|nonsense_mediated_decay||n.*411A>C|||||4102|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473028|processed_transcript||n.*556A>C|||||3987|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000457322|protein_coding||c.*623A>C|||||4014|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000428629|protein_coding||c.*572A>C|||||4013|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000424287|protein_coding||c.*589A>C|||||3975|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000423862|protein_coding||c.*581A>C|||||2075|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000487550|processed_transcript||n.*587A>C|||||2121|,C|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476767|retained_intron||n.*590A>C|||||2085|,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|8/17|n.*975A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|4/13|n.1591A>C||||||,C|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/4|n.444A>C||||||
22	20936980	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|10/18|c.1355C>G|p.Pro452Arg|1424/3351|1355/2367|452/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|8/16|c.902C>G|p.Pro301Arg|1102/3041|902/1914|301/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|9/17|c.1235C>G|p.Pro412Arg|1312/3252|1235/2247|412/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|9/17|c.1157C>G|p.Pro386Arg|1285/3210|1157/2169|386/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|8/16|c.1022C>G|p.Pro341Arg|1060/2235|1022/2034|341/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|9/17|c.1157C>G|p.Pro386Arg|1560/2703|1157/2169|386/722||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000263205|protein_coding|10/18|c.1355C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000292733|protein_coding|9/17|c.1235C>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000382974|protein_coding|8/16|c.1022C>G||||||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/17|n.*1078C>G|||||31257|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1C>G|||||237|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>G|||||645|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>G|||||2253|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>C|||||4803|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-420C>G||||||,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|2/3|n.465-147C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|9/17|n.*1078C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|5/13|n.1694C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|2/10|n.1638C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|1/9|n.793C>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.600C>G||||||
22	20937201	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/18|c.1484C>T|p.Ala495Val|1553/3351|1484/2367|495/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/16|c.1031C>T|p.Ala344Val|1231/3041|1031/1914|344/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/17|c.1364C>T|p.Ala455Val|1441/3252|1364/2247|455/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/17|c.1286C>T|p.Ala429Val|1414/3210|1286/2169|429/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/16|c.1151C>T|p.Ala384Val|1189/2235|1151/2034|384/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/17|c.1286C>T|p.Ala429Val|1689/2703|1286/2169|429/722||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1484C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1484C>T||||||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1207C>T|||||31478|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1C>T|||||16|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1C>T|||||424|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||2032|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||4582|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-199C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1207C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/13|n.1823C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/4|n.539C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/10|n.1767C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/9|n.922C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.821C>T||||||
22	20937204	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|11/18|c.1487G>A|p.Arg496Gln|1556/3351|1487/2367|496/788||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|9/16|c.1034G>A|p.Arg345Gln|1234/3041|1034/1914|345/637||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|10/17|c.1367G>A|p.Arg456Gln|1444/3252|1367/2247|456/748||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|10/17|c.1289G>A|p.Arg430Gln|1417/3210|1289/2169|430/722||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|9/16|c.1154G>A|p.Arg385Gln|1192/2235|1154/2034|385/677||,A|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|10/17|c.1289G>A|p.Arg430Gln|1692/2703|1289/2169|430/722||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|11/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|9/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|8/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|7/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|10/18|c.1487G>A||||||,A|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Pro-rich|ENST00000263205|protein_coding|12/18|c.1487G>A||||||,A|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1210G>A|||||31481|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.-1G>A|||||13|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1G>A|||||421|,A|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1G>A|||||2029|,A|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123C>T|||||4579|,A|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|5/10|c.568-196G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|10/17|n.*1210G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|6/13|n.1826G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|3/4|n.542G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|3/10|n.1770G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|2/9|n.925G>A||||||,A|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.824G>A||||||
22	20937513	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|12/18|c.1651A>G|p.Asn551Asp|1720/3351|1651/2367|551/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|10/16|c.1198A>G|p.Asn400Asp|1398/3041|1198/1914|400/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|11/17|c.1531A>G|p.Asn511Asp|1608/3252|1531/2247|511/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|11/17|c.1453A>G|p.Asn485Asp|1581/3210|1453/2169|485/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|10/16|c.1318A>G|p.Asn440Asp|1356/2235|1318/2034|440/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|11/17|c.1453A>G|p.Asn485Asp|1856/2703|1453/2169|485/722||,G|splice_region_variant&non_coding_exon_variant|LOW|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript|4/4|n.706A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|13/18|c.1651A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000263205|protein_coding|12/18|c.1651A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|12/17|c.1531A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000292733|protein_coding|11/17|c.1531A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|11/16|c.1318A>G||||||,G|sequence_feature|LOW|MED15|ENSG00000099917|short_sequence_motif:Nuclear_localization_signal|ENST00000382974|protein_coding|10/16|c.1318A>G||||||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/17|n.*1374A>G|||||31790|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|6/11|c.*111A>G|||||111|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron||n.-1A>G|||||112|,G|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1A>G|||||1720|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123T>C|||||4270|,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|11/17|n.*1374A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|7/13|n.1990A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|4/10|n.1934A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|3/9|n.1089A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|1/3|n.1133A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron|2/3|n.152A>G||||||
22	20939161	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|15/18|c.1823C>T|p.Pro608Leu|1892/3351|1823/2367|608/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|13/16|c.1370C>T|p.Pro457Leu|1570/3041|1370/1914|457/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|14/17|c.1703C>T|p.Pro568Leu|1780/3252|1703/2247|568/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|14/17|c.1625C>T|p.Pro542Leu|1753/3210|1625/2169|542/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|13/16|c.1490C>T|p.Pro497Leu|1528/2235|1490/2034|497/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|14/17|c.1625C>T|p.Pro542Leu|2028/2703|1625/2169|542/722||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000263205|protein_coding|15/18|c.1823C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000292733|protein_coding|14/17|c.1703C>T||||||,T|sequence_feature|LOW|MED15|ENSG00000099917|compositionally_biased_region:Poly-Pro|ENST00000382974|protein_coding|13/16|c.1490C>T||||||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1546C>T|||||33438|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*283C>T|||||1759|,T|upstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron||n.-1C>T|||||72|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||2622|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||1647|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||1125|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-227C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1546C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|10/13|n.2162C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|7/10|n.2106C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|6/9|n.1261C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2699C>T||||||
22	20939296	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|15/18|c.1958C>T|p.Pro653Leu|2027/3351|1958/2367|653/788||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|13/16|c.1505C>T|p.Pro502Leu|1705/3041|1505/1914|502/637||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|14/17|c.1838C>T|p.Pro613Leu|1915/3252|1838/2247|613/748||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|14/17|c.1760C>T|p.Pro587Leu|1888/3210|1760/2169|587/722||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|13/16|c.1625C>T|p.Pro542Leu|1663/2235|1625/2034|542/677||,T|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|14/17|c.1760C>T|p.Pro587Leu|2163/2703|1760/2169|587/722||,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1681C>T|||||33573|,T|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*418C>T|||||1894|,T|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123G>A|||||2487|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707C>T|||||1782|,T|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593C>T|||||1260|,T|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-92C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1681C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|10/13|n.2297C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|7/10|n.2241C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|6/9|n.1396C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2834C>T||||||,T|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron|1/2|n.64C>T||||||
22	20939298	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000263205|protein_coding|15/18|c.1960A>G|p.Ile654Val|2029/3351|1960/2367|654/788||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000425759|protein_coding|13/16|c.1507A>G|p.Ile503Val|1707/3041|1507/1914|503/637||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000292733|protein_coding|14/17|c.1840A>G|p.Ile614Val|1917/3252|1840/2247|614/748||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000406969|protein_coding|14/17|c.1762A>G|p.Ile588Val|1890/3210|1762/2169|588/722||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000382974|protein_coding|13/16|c.1627A>G|p.Ile543Val|1665/2235|1627/2034|543/677||,G|missense_variant|MODERATE|MED15|ENSG00000099917|transcript|ENST00000541476|protein_coding|14/17|c.1762A>G|p.Ile588Val|2165/2703|1762/2169|588/722||,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1683A>G|||||33575|,G|3_prime_UTR_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000542773|protein_coding|9/11|c.*420A>G|||||1896|,G|downstream_gene_variant|MODIFIER|AC007050.18|ENSG00000250261|transcript|ENST00000508880|unprocessed_pseudogene||n.*1123T>C|||||2485|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000478831|processed_transcript||n.*707A>G|||||1784|,G|downstream_gene_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000476187|retained_intron||n.*593A>G|||||1262|,G|intron_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000461076|retained_intron|2/2|n.124-90A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000433831|nonsense_mediated_decay|14/17|n.*1683A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000492381|retained_intron|10/13|n.2299A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000489651|retained_intron|7/10|n.2243A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000473244|retained_intron|6/9|n.1398A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000493216|retained_intron|2/3|n.2836A>G||||||,G|non_coding_exon_variant|MODIFIER|MED15|ENSG00000099917|transcript|ENST00000436496|retained_intron|1/2|n.66A>G||||||
22	21073090	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|44/55|c.5137G>C|p.Asp1713His|5224/6752|5137/6309|1713/2102||,G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|12/23|c.1393G>C|p.Asp465His|1510/3036|1393/2565|465/854||,G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|44/55|c.4963G>C|p.Asp1655His|5194/6720|4963/6135|1655/2044||,G|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000399213|protein_coding|2/13|c.142G>C|p.Asp48His|142/1636|142/1308|48/435||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1393G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4963G>C||||||,G|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4963G>C||||||,G|upstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.-1C>G|||||4245|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466394|retained_intron||n.-1G>C|||||958|,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000492581|retained_intron|2/10|n.733G>C||||||,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|12/23|n.1510G>C||||||,G|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|4/13|n.314G>C||||||
22	21081634	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|41/55|c.4825G>A|p.Val1609Met|4912/6752|4825/6309|1609/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000414196|protein_coding|9/23|c.1081G>A|p.Val361Met|1198/3036|1081/2565|361/854||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|41/55|c.4651G>A|p.Val1551Met|4882/6720|4651/6135|1551/2044||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|8/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|11/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|9/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|12/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|10/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000414196|protein_coding|7/23|c.1081G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|44/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|42/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|43/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|41/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|40/55|c.4651G>A||||||,T|sequence_feature|LOW|PI4KA|ENSG00000241973|domain:PIK_helical|ENST00000572273|protein_coding|39/55|c.4651G>A||||||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000489966|retained_intron||n.-1G>A|||||53|,T|downstream_gene_variant|MODIFIER|AC007308.6|ENSG00000234252|transcript|ENST00000430719|antisense||n.*2400C>T|||||1426|,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485123|retained_intron||n.*455G>A|||||223|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000477245|retained_intron|9/23|n.1198G>A||||||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466772|retained_intron|1/13|n.12G>A||||||
22	21096605	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|32/55|c.3652C>T|p.Pro1218Ser|3739/6752|3652/6309|1218/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|32/55|c.3478C>T|p.Pro1160Ser|3709/6720|3478/6135|1160/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|2/3|n.349C>T||||||
22	21096619	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|32/55|c.3638A>G|p.His1213Arg|3725/6752|3638/6309|1213/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|32/55|c.3464A>G|p.His1155Arg|3695/6720|3464/6135|1155/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|2/3|n.335A>G||||||
22	21096904	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/55|c.3605G>A|p.Ser1202Asn|3692/6752|3605/6309|1202/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/55|c.3431G>A|p.Ser1144Asn|3662/6720|3431/6135|1144/2044||,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400G>A|||||4868|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/3|n.302G>A||||||
22	21097036	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/55|c.3473G>A|p.Arg1158Gln|3560/6752|3473/6309|1158/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/55|c.3299G>A|p.Arg1100Gln|3530/6720|3299/6135|1100/2044||,T|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400G>A|||||4736|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/3|n.170G>A||||||
22	21097037	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|31/55|c.3472C>T|p.Arg1158Trp|3559/6752|3472/6309|1158/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|31/55|c.3298C>T|p.Arg1100Trp|3529/6720|3298/6135|1100/2044||,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.*400C>T|||||4735|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000494113|retained_intron|1/3|n.169C>T||||||
22	21107463	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|24/55|c.2797A>G|p.Met933Val|2884/6752|2797/6309|933/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|24/55|c.2623A>G|p.Met875Val|2854/6720|2623/6135|875/2044||,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000475414|retained_intron||n.-1A>G|||||1495|,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|7/7|n.560A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|7/7|n.560A>G||||||
22	21119148	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|22/55|c.2665A>G|p.Met889Val|2752/6752|2665/6309|889/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|22/55|c.2491A>G|p.Met831Val|2722/6720|2491/6135|831/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|5/7|n.428A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|5/7|n.428A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|5/5|n.401A>G||||||
22	21133619	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.19G>A|p.Ala7Thr|302/2437|19/1500|7/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.19G>A|p.Ala7Thr|151/1798|19/1500|7/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|signal_peptide|ENST00000406799|protein_coding|1/4|c.19G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13638C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13638C>T||||||
22	21133685	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.85G>A|p.Glu29Lys|368/2437|85/1500|29/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.85G>A|p.Glu29Lys|217/1798|85/1500|29/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13704C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13704C>T||||||
22	21133692	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.92G>A|p.Gly31Glu|375/2437|92/1500|31/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.92G>A|p.Gly31Glu|224/1798|92/1500|31/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2329-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2155-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.92-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.92-13711C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.65-13711C>T||||||
22	21133793	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.193G>A|p.Val65Ile|476/2437|193/1500|65/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.193G>A|p.Val65Ile|325/1798|193/1500|65/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13688C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13688C>T||||||
22	21133831	.	C	A,T	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.231C>A|p.Asp77Glu|514/2437|231/1500|77/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.231C>A|p.Asp77Glu|363/1798|231/1500|77/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.231C>T|p.Asp77Asp|514/2437|231/1500|77/499||,T|synonymous_variant|LOW|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.231C>T|p.Asp77Asp|363/1798|231/1500|77/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:Chemotactic_activity|ENST00000406799|protein_coding|1/4|c.231C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:Chemotactic_activity|ENST00000406799|protein_coding|1/4|c.231C>T||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:1|ENST00000406799|protein_coding|1/4|c.231C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:1|ENST00000406799|protein_coding|1/4|c.231C>T||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.231C>A||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.231C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13650G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13650G>A||||||
22	21133860	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.260G>A|p.Ser87Asn|543/2437|260/1500|87/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.260G>A|p.Ser87Asn|392/1798|260/1500|87/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.260G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.260G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:2|ENST00000406799|protein_coding|1/4|c.260G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13621C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13621C>T||||||
22	21133886	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.286G>A|p.Val96Ile|569/2437|286/1500|96/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.286G>A|p.Val96Ile|418/1798|286/1500|96/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:2_X_11_AA_approximate_repeats_Asp/Glu-rich__acidic___hirudin-like_|ENST00000406799|protein_coding|1/4|c.286G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|repeat:2|ENST00000406799|protein_coding|1/4|c.286G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13595C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13595C>T||||||
22	21134007	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.407A>T|p.Asn136Ile|690/2437|407/1500|136/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.407A>T|p.Asn136Ile|539/1798|407/1500|136/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.407A>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13474T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13474T>A||||||
22	21134037	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.437A>T|p.Asn146Ile|720/2437|437/1500|146/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.437A>T|p.Asn146Ile|569/1798|437/1500|146/499||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13444T>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13444T>A||||||
22	21134067	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.467T>C|p.Val156Ala|750/2437|467/1500|156/499||,C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.467T>C|p.Val156Ala|599/1798|467/1500|156/499||,C|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.467T>C||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13414A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13414A>G||||||
22	21134136	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.536C>T|p.Ser179Leu|819/2437|536/1500|179/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.536C>T|p.Ser179Leu|668/1798|536/1500|179/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.536C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13345G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13345G>A||||||
22	21134223	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.623G>A|p.Arg208His|906/2437|623/1500|208/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.623G>A|p.Arg208His|755/1798|623/1500|208/499||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|region_of_interest:Glycosaminoglycan-binding_site|ENST00000406799|protein_coding|1/4|c.623G>A||||||,A|sequence_feature|LOW|SERPIND1|ENSG00000099937|helix|ENST00000406799|protein_coding|1/4|c.623G>A||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13258C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13258C>T||||||
22	21134430	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.830C>T|p.Ala277Val|1113/2437|830/1500|277/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.830C>T|p.Ala277Val|962/1798|830/1500|277/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|turn|ENST00000406799|protein_coding|1/4|c.830C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13051G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13051G>A||||||
22	21134442	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|2/5|c.842T>C|p.Ile281Thr|1125/2437|842/1500|281/499||,C|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|1/4|c.842T>C|p.Ile281Thr|974/1798|842/1500|281/499||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+13039A>G||||||,C|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+13039A>G||||||
22	21141179	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.1325C>T|p.Thr442Met|1608/2437|1325/1500|442/499||,T|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.1325C>T|p.Thr442Met|1457/1798|1325/1500|442/499||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|3/4|c.1325C>T||||||,T|sequence_feature|LOW|SERPIND1|ENSG00000099937|beta_strand|ENST00000406799|protein_coding|4/4|c.1325C>T||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6302G>A||||||,T|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6302G>A||||||
22	21141265	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000215727|protein_coding|5/5|c.1411G>A|p.Val471Ile|1694/2437|1411/1500|471/499||,A|missense_variant|MODERATE|SERPIND1|ENSG00000099937|transcript|ENST00000406799|protein_coding|4/4|c.1411G>A|p.Val471Ile|1543/1798|1411/1500|471/499||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|19/54|c.2328+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|19/54|c.2154+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000466162|processed_transcript|2/6|n.91+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000490873|processed_transcript|2/6|n.91+6216C>T||||||,A|intron_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron|2/4|n.64+6216C>T||||||
22	21153433	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|16/55|c.1952C>G|p.Pro651Arg|2039/6752|1952/6309|651/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|16/55|c.1778C>G|p.Pro593Arg|2009/6720|1778/6135|593/2044||,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000484220|retained_intron||n.-1C>G|||||2987|,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|16/17|n.2039C>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|3/3|n.274C>G||||||
22	21156277	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1708A>G|p.Ile570Val|1795/6752|1708/6309|570/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1534A>G|p.Ile512Val|1765/6720|1534/6135|512/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1795A>G||||||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|1/3|n.30A>G||||||
22	21156293	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1692G>T|p.Gln564His|1779/6752|1692/6309|564/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1518G>T|p.Gln506His|1749/6720|1518/6135|506/2044||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1779G>T||||||,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron|1/3|n.14G>T||||||
22	21156388	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|14/55|c.1597G>A|p.Gly533Ser|1684/6752|1597/6309|533/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|14/55|c.1423G>A|p.Gly475Ser|1654/6720|1423/6135|475/2044||,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1G>A|||||82|,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|14/17|n.1684G>A||||||
22	21159355	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|11/55|c.1267C>T|p.Arg423Trp|1354/6752|1267/6309|423/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|11/55|c.1093C>T|p.Arg365Trp|1324/6720|1093/6135|365/2044||,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485950|retained_intron||n.-1C>T|||||3049|,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|11/17|n.1354C>T||||||
22	21165308	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|9/55|c.1018G>A|p.Val340Ile|1105/6752|1018/6309|340/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|9/55|c.844G>A|p.Val282Ile|1075/6720|844/6135|282/2044||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|9/17|n.1105G>A||||||
22	21165311	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|9/55|c.1015A>G|p.Ile339Val|1102/6752|1015/6309|339/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|9/55|c.841A>G|p.Ile281Val|1072/6720|841/6135|281/2044||,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|9/17|n.1102A>G||||||
22	21167667	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|8/55|c.984G>A|p.Met328Ile|1071/6752|984/6309|328/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|8/55|c.810G>A|p.Met270Ile|1041/6720|810/6135|270/2044||,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|8/17|n.1071G>A||||||
22	21174120	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|6/55|c.598A>G|p.Met200Val|685/6752|598/6309|200/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|6/55|c.424A>G|p.Met142Val|655/6720|424/6135|142/2044||,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574A>G|||||4515|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|6/17|n.685A>G||||||
22	21174855	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|5/55|c.501G>T|p.Met167Ile|588/6752|501/6309|167/2102||,A|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|5/55|c.327G>T|p.Met109Ile|558/6720|327/6135|109/2044||,A|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574G>T|||||3780|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|5/17|n.588G>T||||||
22	21178633	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|4/55|c.437A>G|p.Asp146Gly|524/6752|437/6309|146/2102||,C|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|4/55|c.263A>G|p.Asp88Gly|494/6720|263/6135|88/2044||,C|downstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding||c.*574A>G|||||2|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|4/17|n.524A>G||||||
22	21188928	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding|3/55|c.289G>A|p.Val97Ile|376/6752|289/6309|97/2102||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding|3/55|c.115G>A|p.Val39Ile|346/6720|115/6135|39/2044||,T|missense_variant|MODERATE|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|3/4|c.115G>A|p.Val39Ile|428/574|115/261|39/86||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron|3/17|n.376G>A||||||
22	21213463	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.65C>T|p.Pro22Leu|193/4287|65/777|22/258||,T|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-71G>A|||||20462|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>A|||||363|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>A|||||393|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>A|||||363|,T|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>T|||||308|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.95C>T||||||
22	21213479	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.81C>G|p.Asp27Glu|209/4287|81/777|27/258||,G|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-87G>C|||||20478|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>C|||||379|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>C|||||409|,G|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>C|||||379|,G|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>G|||||292|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.111C>G||||||
22	21213511	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.113C>T|p.Pro38Leu|241/4287|113/777|38/258||,T|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-119G>A|||||20510|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88G>A|||||411|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232G>A|||||441|,T|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1G>A|||||411|,T|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201C>T|||||260|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.143C>T||||||
22	21213516	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.118G>A|p.Asp40Asn|246/4287|118/777|40/258||,A|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-124C>T|||||20515|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88C>T|||||416|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232C>T|||||446|,A|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1C>T|||||416|,A|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201G>A|||||255|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.148G>A||||||
22	21213528	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|1/5|c.130T>C|p.Tyr44His|258/4287|130/777|44/258||,C|5_prime_UTR_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000449120|protein_coding|1/4|c.-136A>G|||||20527|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000255882|protein_coding||c.-88A>G|||||428|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000572273|protein_coding||c.-232A>G|||||458|,C|upstream_gene_variant|MODIFIER|PI4KA|ENSG00000241973|transcript|ENST00000485963|retained_intron||n.-1A>G|||||428|,C|upstream_gene_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding||c.-201T>C|||||243|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|1/2|n.160T>C||||||
22	21224646	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/5|c.259G>A|p.Val87Ile|387/4287|259/777|87/258||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.259G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.259G>A||||||,A|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/5|c.-21G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.289G>A||||||
22	21224652	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/5|c.265G>A|p.Glu89Lys|393/4287|265/777|89/258||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.265G>A||||||,A|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.265G>A||||||,A|5_prime_UTR_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/5|c.-15G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.295G>A||||||
22	21224705	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|2/5|c.318G>C|p.Gln106His|446/4287|318/777|106/258||,C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|2/5|c.39G>C|p.Gln13His|239/681|39/481|13/159||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|1/5|c.318G>C||||||,C|sequence_feature|LOW|SNAP29|ENSG00000099940|coiled-coil_region|ENST00000215730|protein_coding|2/5|c.318G>C||||||,C|non_coding_exon_variant|MODIFIER|SNAP29|ENSG00000099940|transcript|ENST00000490458|retained_intron|2/2|n.348G>C||||||
22	21235389	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|3/5|c.487A>G|p.Ser163Gly|615/4287|487/777|163/258||,G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|3/5|c.208A>G|p.Ser70Gly|408/681|208/481|70/159||WARNING_TRANSCRIPT_INCOMPLETE
22	21235417	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|3/5|c.515A>C|p.Asp172Ala|643/4287|515/777|172/258||,C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|3/5|c.236A>C|p.Asp79Ala|436/681|236/481|79/159||WARNING_TRANSCRIPT_INCOMPLETE
22	21237816	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|4/5|c.578C>G|p.Pro193Arg|706/4287|578/777|193/258||,G|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|4/5|c.299C>G|p.Pro100Arg|499/681|299/481|100/159||WARNING_TRANSCRIPT_INCOMPLETE
22	21241970	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.623A>T|p.Glu208Val|751/4287|623/777|208/258||,T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|5/5|c.344A>T|p.Glu115Val|544/681|344/481|115/159||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.623A>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.623A>T||||||,T|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373T>A|||||1524|
22	21241976	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.629C>T|p.Ser210Phe|757/4287|629/777|210/258||,T|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|5/5|c.350C>T|p.Ser117Phe|550/681|350/481|117/159||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.629C>T||||||,T|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.629C>T||||||,T|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373G>A|||||1518|
22	21242095	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000215730|protein_coding|5/5|c.748A>C|p.Ser250Arg|876/4287|748/777|250/258||,C|missense_variant|MODERATE|SNAP29|ENSG00000099940|transcript|ENST00000439214|protein_coding|5/5|c.469A>C|p.Ser157Arg|669/681|469/481|157/159||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|4/5|c.748A>C||||||,C|sequence_feature|LOW|SNAP29|ENSG00000099940|domain:t-SNARE_coiled-coil_homology|ENST00000215730|protein_coding|5/5|c.748A>C||||||,C|downstream_gene_variant|MODIFIER|AC007308.7|ENSG00000272600|transcript|ENST00000608856|antisense||n.*373T>G|||||1399|
22	21288324	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|2/3|c.569A>G|p.His190Arg|1078/5325|569/912|190/303||,G|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|2/4|n.569A>G||||||
22	21288416	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRKL|ENSG00000099942|transcript|ENST00000354336|protein_coding|2/3|c.661G>A|p.Gly221Ser|1170/5325|661/912|221/303||,A|non_coding_exon_variant|MODIFIER|CRKL|ENSG00000099942|transcript|ENST00000411769|nonsense_mediated_decay|2/4|n.661G>A||||||
22	21322238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|2/19|c.80C>T|p.Ala27Val|187/2157|80/1761|27/586||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|2/21|c.6C>T|p.Gly2Gly|246/2387|6/1818|2/605||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|2/20|c.6C>T|p.Gly2Gly|191/2309|6/1797|2/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|3/6|c.6C>T|p.Gly2Gly|223/606|6/389|2/128||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|2/10|c.6C>T|p.Gly2Gly|291/1094|6/809|2/268||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|2/20|c.6C>T|p.Gly2Gly|195/2333|6/1815|2/604||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|1/19|c.6C>T|p.Gly2Gly|149/2230|6/1797|2/598||,T|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|1/20|c.6C>T|p.Gly2Gly|149/2251|6/1818|2/605||,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.15|ENSG00000237476|transcript|ENST00000444039|lincRNA||n.*684C>T|||||3271|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000479523|retained_intron||n.*562C>T|||||914|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000495869|retained_intron||n.*501C>T|||||1152|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|2/7|n.6C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|2/3|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|3/4|n.218C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/5|n.6C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|2/5|n.201C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|2/3|n.195C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|2/5|n.199C>T||||||
22	21322243	.	G	C	.	.	ANN=C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|2/21|c.11G>C|p.Cys4Ser|251/2387|11/1818|4/605||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|2/20|c.11G>C|p.Cys4Ser|196/2309|11/1797|4/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|3/6|c.11G>C|p.Cys4Ser|228/606|11/389|4/128||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|2/10|c.11G>C|p.Cys4Ser|296/1094|11/809|4/268||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|2/20|c.11G>C|p.Cys4Ser|200/2333|11/1815|4/604||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|2/19|c.85G>C|p.Ala29Pro|192/2157|85/1761|29/586||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|1/19|c.11G>C|p.Cys4Ser|154/2230|11/1797|4/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|1/20|c.11G>C|p.Cys4Ser|154/2251|11/1818|4/605||,C|downstream_gene_variant|MODIFIER|XXbac-B135H6.15|ENSG00000237476|transcript|ENST00000444039|lincRNA||n.*684G>C|||||3276|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000479523|retained_intron||n.*562G>C|||||919|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000495869|retained_intron||n.*501G>C|||||1157|,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|2/7|n.11G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|2/3|n.187G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|3/4|n.223G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/5|n.11G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|2/5|n.206G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|2/3|n.200G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|2/5|n.204G>C||||||
22	21327589	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/20|c.43C>T|p.Pro15Ser|232/2333|43/1815|15/604||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|2/20|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|2/19|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|2/6|n.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|2/2|n.208-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|3/5|c.32-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|3/3|n.244-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|2/9|c.32-7C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|2/4|n.227-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|2/2|n.221-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|2/4|n.225-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|2/18|c.106-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|1/18|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|1/19|c.32-7C>T||||||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1C>T|||||1213|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1C>T|||||2392|,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||3573|,T|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/4|n.32-71C>T||||||
22	21327642	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|3/19|c.152G>A|p.Arg51Lys|259/2157|152/1761|51/586||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|3/21|c.78G>A|p.Lys26Lys|318/2387|78/1818|26/605||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|3/20|c.78G>A|p.Lys26Lys|263/2309|78/1797|26/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding|4/6|c.78G>A|p.Lys26Lys|295/606|78/389|26/128||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|3/10|c.78G>A|p.Lys26Lys|363/1094|78/809|26/268||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|3/20|c.96G>A|p.Lys32Lys|285/2333|96/1815|32/604||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|2/19|c.78G>A|p.Lys26Lys|221/2230|78/1797|26/598||,A|synonymous_variant|LOW|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|2/20|c.78G>A|p.Lys26Lys|221/2251|78/1818|26/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||1160|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||2339|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||3520|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay|2/4|n.32-18G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|3/7|n.78G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron|3/3|n.254G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron|4/4|n.290G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|3/5|n.273G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron|3/3|n.267G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|3/5|n.271G>A||||||
22	21328435	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|5/21|c.439G>A|p.Gly147Ser|679/2387|439/1818|147/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|5/20|c.439G>A|p.Gly147Ser|624/2309|439/1797|147/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|5/10|c.439G>A|p.Gly147Ser|724/1094|439/809|147/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|5/20|c.457G>A|p.Gly153Ser|646/2333|457/1815|153/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|4/19|c.403G>A|p.Gly135Ser|510/2157|403/1761|135/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|4/19|c.439G>A|p.Gly147Ser|582/2230|439/1797|147/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|4/20|c.439G>A|p.Gly147Ser|582/2251|439/1818|147/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.457G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.439G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.439G>A||||||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||367|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1546|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2727|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||501|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||527|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||50|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||468|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|4/7|n.329G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|4/5|n.524G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript|4/5|n.522G>A||||||
22	21328568	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|6/21|c.493G>A|p.Val165Ile|733/2387|493/1818|165/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|6/20|c.493G>A|p.Val165Ile|678/2309|493/1797|165/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|6/10|c.493G>A|p.Val165Ile|778/1094|493/809|165/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|6/20|c.511G>A|p.Val171Ile|700/2333|511/1815|171/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|5/19|c.457G>A|p.Val153Ile|564/2157|457/1761|153/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|5/19|c.493G>A|p.Val165Ile|636/2230|493/1797|165/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|5/20|c.493G>A|p.Val165Ile|636/2251|493/1818|165/605||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|3/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|5/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|6/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000405089|protein_coding|4/20|c.511G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|2/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|4/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|5/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000333607|protein_coding|3/19|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|2/20|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|4/20|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|5/20|c.493G>A||||||,A|sequence_feature|LOW|AIFM3|ENSG00000183773|domain:Rieske|ENST00000440238|protein_coding|3/20|c.493G>A||||||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*17G>A|||||17|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||234|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1413|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2594|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||634|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||183|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||660|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||183|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||601|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||12|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*17G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|5/5|n.578G>A||||||
22	21328572	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|6/21|c.497G>A|p.Arg166Gln|737/2387|497/1818|166/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|6/20|c.497G>A|p.Arg166Gln|682/2309|497/1797|166/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|6/10|c.497G>A|p.Arg166Gln|782/1094|497/809|166/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|6/20|c.515G>A|p.Arg172Gln|704/2333|515/1815|172/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|5/19|c.461G>A|p.Arg154Gln|568/2157|461/1761|154/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|5/19|c.497G>A|p.Arg166Gln|640/2230|497/1797|166/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|5/20|c.497G>A|p.Arg166Gln|640/2251|497/1818|166/605||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*21G>A|||||21|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript||n.-1G>A|||||230|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||1409|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2590|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||638|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||187|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||664|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||187|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||605|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||16|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|5/7|n.*21G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript|5/5|n.582G>A||||||
22	21328899	.	T	C	.	.	ANN=C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|7/21|c.596T>C|p.Ile199Thr|836/2387|596/1818|199/605||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|7/20|c.596T>C|p.Ile199Thr|781/2309|596/1797|199/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|7/10|c.596T>C|p.Ile199Thr|881/1094|596/809|199/268||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|7/20|c.614T>C|p.Ile205Thr|803/2333|614/1815|205/604||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|6/19|c.560T>C|p.Ile187Thr|667/2157|560/1761|187/586||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|6/19|c.596T>C|p.Ile199Thr|739/2230|596/1797|199/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|6/20|c.596T>C|p.Ile199Thr|739/2251|596/1818|199/605||,C|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/7|n.*120T>C|||||348|,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1T>C|||||1082|,C|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1T>C|||||2263|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1T>C|||||4852|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546T>C|||||965|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606T>C|||||514|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556T>C|||||991|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421T>C|||||514|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596T>C|||||313|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592T>C|||||932|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564T>C|||||343|,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|6/7|n.*120T>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|1/14|n.98T>C||||||
22	21329052	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|8/21|c.667G>A|p.Val223Ile|907/2387|667/1818|223/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|8/20|c.667G>A|p.Val223Ile|852/2309|667/1797|223/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding|8/10|c.667G>A|p.Val223Ile|952/1094|667/809|223/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|8/20|c.685G>A|p.Val229Ile|874/2333|685/1815|229/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|7/19|c.631G>A|p.Val211Ile|738/2157|631/1761|211/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|7/19|c.667G>A|p.Val223Ile|810/2230|667/1797|223/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|7/20|c.667G>A|p.Val223Ile|810/2251|667/1818|223/605||,A|3_prime_UTR_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|7/7|n.*191G>A|||||501|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript||n.-1G>A|||||929|,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||2110|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||4699|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||1118|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||667|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||1144|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||667|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||466|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||1085|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||496|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay|7/7|n.*191G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|2/14|n.145G>A||||||
22	21330507	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|10/21|c.811G>A|p.Val271Ile|1051/2387|811/1818|271/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|10/20|c.811G>A|p.Val271Ile|996/2309|811/1797|271/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|10/20|c.829G>A|p.Val277Ile|1018/2333|829/1815|277/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|9/19|c.775G>A|p.Val259Ile|882/2157|775/1761|259/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|9/19|c.811G>A|p.Val271Ile|954/2230|811/1797|271/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|9/20|c.811G>A|p.Val271Ile|954/2251|811/1818|271/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||655|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||3244|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1404|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2573|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2599|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2122|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||1921|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2540|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||1951|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|4/14|n.289G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|2/11|n.91G>A||||||
22	21330750	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.953G>A|p.Arg318Gln|1193/2387|953/1818|318/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.953G>A|p.Arg318Gln|1138/2309|953/1797|318/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.971G>A|p.Arg324Gln|1160/2333|971/1815|324/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.917G>A|p.Arg306Gln|1024/2157|917/1761|306/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.953G>A|p.Arg318Gln|1096/2230|953/1797|318/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.953G>A|p.Arg318Gln|1096/2251|953/1818|318/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||412|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||3001|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4900|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1647|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2816|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2365|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2842|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||245|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2365|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2164|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2783|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2194|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.431G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.233G>A||||||
22	21330789	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.992G>A|p.Arg331Gln|1232/2387|992/1818|331/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.992G>A|p.Arg331Gln|1177/2309|992/1797|331/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.1010G>A|p.Arg337Gln|1199/2333|1010/1815|337/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.956G>A|p.Arg319Gln|1063/2157|956/1761|319/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.992G>A|p.Arg331Gln|1135/2230|992/1797|331/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.992G>A|p.Arg331Gln|1135/2251|992/1818|331/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||373|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2962|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4861|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1686|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2855|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2404|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2881|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||284|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2404|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2203|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2822|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2233|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.470G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.272G>A||||||
22	21330800	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|11/21|c.1003G>A|p.Val335Met|1243/2387|1003/1818|335/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|11/20|c.1003G>A|p.Val335Met|1188/2309|1003/1797|335/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|11/20|c.1021G>A|p.Val341Met|1210/2333|1021/1815|341/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|10/19|c.967G>A|p.Val323Met|1074/2157|967/1761|323/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|10/19|c.1003G>A|p.Val335Met|1146/2230|1003/1797|335/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|10/20|c.1003G>A|p.Val335Met|1146/2251|1003/1818|335/605||,A|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1G>A|||||362|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||2951|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||4850|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||1697|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||2866|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||2415|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||2892|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||295|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||2415|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||2214|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||2833|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||2244|,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|5/14|n.481G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|3/11|n.283G>A||||||
22	21331032	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|12/21|c.1123C>T|p.Arg375Cys|1363/2387|1123/1818|375/605||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|12/20|c.1123C>T|p.Arg375Cys|1308/2309|1123/1797|375/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|12/20|c.1141C>T|p.Arg381Cys|1330/2333|1141/1815|381/604||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|11/19|c.1087C>T|p.Arg363Cys|1194/2157|1087/1761|363/586||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|11/19|c.1123C>T|p.Arg375Cys|1266/2230|1123/1797|375/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|11/20|c.1123C>T|p.Arg375Cys|1266/2251|1123/1818|375/605||,T|upstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron||n.-1C>T|||||130|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||2719|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||4618|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||1929|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||3098|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2647|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||3124|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||527|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2647|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2446|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||3065|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2476|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|6/14|n.601C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|4/11|n.403C>T||||||
22	21331171	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|13/21|c.1162C>T|p.Arg388Trp|1402/2387|1162/1818|388/605||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|13/20|c.1162C>T|p.Arg388Trp|1347/2309|1162/1797|388/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|13/20|c.1180C>T|p.Arg394Trp|1369/2333|1180/1815|394/604||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|12/19|c.1126C>T|p.Arg376Trp|1233/2157|1126/1761|376/586||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|12/19|c.1162C>T|p.Arg388Trp|1305/2230|1162/1797|388/598||,T|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|12/20|c.1162C>T|p.Arg388Trp|1305/2251|1162/1818|388/605||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>T|||||2580|,T|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>A|||||4479|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>T|||||2068|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>T|||||3237|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>T|||||2786|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>T|||||3263|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>T|||||666|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>T|||||2786|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>T|||||2585|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>T|||||3204|,T|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>T|||||2615|,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|7/14|n.640C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|5/11|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.10C>T||||||
22	21332030	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|15/21|c.1324G>A|p.Gly442Ser|1564/2387|1324/1818|442/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|15/20|c.1324G>A|p.Gly442Ser|1509/2309|1324/1797|442/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|15/20|c.1342G>A|p.Gly448Ser|1531/2333|1342/1815|448/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|14/19|c.1288G>A|p.Gly430Ser|1395/2157|1288/1761|430/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|14/19|c.1324G>A|p.Gly442Ser|1467/2230|1324/1797|442/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|14/20|c.1324G>A|p.Gly442Ser|1467/2251|1324/1818|442/605||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||4272|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>A|||||1721|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||4528|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||4556|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||4582|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||4590|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||3620|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>A|||||2927|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546G>A|||||4096|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606G>A|||||3645|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556G>A|||||4122|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||1525|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421G>A|||||3645|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596G>A|||||3444|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592G>A|||||4063|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564G>A|||||3474|,A|intron_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|6/10|n.563-147G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|9/14|n.802G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|1/4|n.869G>A||||||
22	21332187	.	C	G	.	.	ANN=G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|16/21|c.1370C>G|p.Thr457Ser|1610/2387|1370/1818|457/605||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|16/20|c.1370C>G|p.Thr457Ser|1555/2309|1370/1797|457/598||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|16/20|c.1388C>G|p.Thr463Ser|1577/2333|1388/1815|463/604||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|15/19|c.1334C>G|p.Thr445Ser|1441/2157|1334/1761|445/586||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|15/19|c.1370C>G|p.Thr457Ser|1513/2230|1370/1797|457/598||,G|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|15/20|c.1370C>G|p.Thr457Ser|1513/2251|1370/1818|457/605||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360C>G|||||4115|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1C>G|||||1564|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104C>G|||||4371|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1C>G|||||4399|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50C>G|||||4425|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42C>G|||||4433|,G|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395G>C|||||3463|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547C>G|||||3084|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000467926|retained_intron||n.*546C>G|||||4253|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000441376|protein_coding||c.*606C>G|||||3802|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000472575|retained_intron||n.*556C>G|||||4279|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094C>G|||||1682|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000426113|nonsense_mediated_decay||n.*421C>G|||||3802|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000468124|processed_transcript||n.*596C>G|||||3601|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000484206|retained_intron||n.*592C>G|||||4220|,G|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000496097|processed_transcript||n.*564C>G|||||3631|,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|10/14|n.848C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|7/11|n.573C>G||||||,G|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|2/4|n.915C>G||||||
22	21333605	.	G	C	.	.	ANN=C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|17/21|c.1523G>C|p.Ser508Thr|1763/2387|1523/1818|508/605||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|17/20|c.1523G>C|p.Ser508Thr|1708/2309|1523/1797|508/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|17/20|c.1541G>C|p.Ser514Thr|1730/2333|1541/1815|514/604||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|16/19|c.1487G>C|p.Ser496Thr|1594/2157|1487/1761|496/586||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|16/19|c.1523G>C|p.Ser508Thr|1666/2230|1523/1797|508/598||,C|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|16/20|c.1523G>C|p.Ser508Thr|1666/2251|1523/1818|508/605||,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>C|||||2697|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.-1G>C|||||146|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>C|||||2953|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>C|||||2981|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>C|||||3007|,C|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>C|||||3015|,C|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>G|||||2045|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000417515|nonsense_mediated_decay||n.*547G>C|||||4502|,C|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>C|||||3100|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|11/14|n.1001G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|8/11|n.726G>C||||||,C|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|3/4|n.1068G>C||||||
22	21334389	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399167|protein_coding|19/21|c.1733G>A|p.Arg578His|1973/2387|1733/1818|578/605||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000399163|protein_coding|19/20|c.1733G>A|p.Arg578His|1918/2309|1733/1797|578/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000405089|protein_coding|19/20|c.1751G>A|p.Arg584His|1940/2333|1751/1815|584/604||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000335375|protein_coding|18/19|c.1697G>A|p.Arg566His|1804/2157|1697/1761|566/586||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000333607|protein_coding|18/19|c.1733G>A|p.Arg578His|1876/2230|1733/1797|578/598||,A|missense_variant|MODERATE|AIFM3|ENSG00000183773|transcript|ENST00000440238|protein_coding|18/20|c.1733G>A|p.Arg578His|1876/2251|1733/1818|578/605||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.-360G>A|||||1913|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.-104G>A|||||2169|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000493460|retained_intron||n.-1G>A|||||2197|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.-50G>A|||||2223|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.-42G>A|||||2231|,A|downstream_gene_variant|MODIFIER|XXbac-B135H6.18|ENSG00000272829|transcript|ENST00000610278|lincRNA||n.*395C>T|||||1261|,A|downstream_gene_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000434714|protein_coding||c.*1094G>A|||||3884|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000465606|processed_transcript|13/14|n.1211G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000483107|processed_transcript|10/11|n.936G>A||||||,A|non_coding_exon_variant|MODIFIER|AIFM3|ENSG00000183773|transcript|ENST00000486003|retained_intron|4/4|n.1595G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|2/22|n.322G>A||||||
22	21346095	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|9/21|c.970G>A|p.Val324Ile|1329/4572|970/2523|324/840||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|8/20|c.913G>A|p.Val305Ile|954/2625|913/2466|305/821||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|10/21|c.970G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|repeat:Kelch_5|ENST00000215739|protein_coding|9/21|c.970G>A||||||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.-1G>A|||||2421|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.-1G>A|||||2521|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.-1G>A|||||2671|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.-2G>A|||||2855|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||2876|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||3100|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||3283|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||3982|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||4190|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||121|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||2131|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||127|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|10/22|n.1116G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript|3/5|n.797G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron|1/2|n.71G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron|1/6|n.26G>A||||||
22	21348954	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|15/21|c.1723G>A|p.Asp575Asn|2082/4572|1723/2523|575/840||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|14/20|c.1666G>A|p.Asp556Asn|1707/2625|1666/2466|556/821||,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.-1G>A|||||17|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.-1G>A|||||241|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1G>A|||||424|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1G>A|||||1123|,A|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2G>A|||||1331|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||2980|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000443265|nonsense_mediated_decay||n.*355G>A|||||4990|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||2986|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||1817|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||2133|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||365|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||4439|,A|intron_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|1/5|n.44-9G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|16/22|n.1869G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|1/4|n.339G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|1/4|n.189G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|1/6|n.4G>A||||||
22	21349277	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/21|c.1904C>T|p.Pro635Leu|2263/4572|1904/2523|635/840||,T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/20|c.1847C>T|p.Pro616Leu|1888/2625|1847/2466|616/821||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||101|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||800|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1008|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||4784|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||3303|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||3309|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2140|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||2456|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||688|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4116|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||4785|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||4789|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||4814|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/22|n.2050C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|3/6|n.216C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/4|n.520C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/4|n.325C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|2/6|n.185C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|2/2|n.165C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/6|n.83C>T||||||
22	21349280	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/21|c.1907C>T|p.Pro636Leu|2266/4572|1907/2523|636/840||,T|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/20|c.1850C>T|p.Pro617Leu|1891/2625|1850/2466|617/821||,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1C>T|||||98|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1C>T|||||797|,T|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2C>T|||||1005|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105G>A|||||4781|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457C>T|||||3306|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539C>T|||||3312|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031C>T|||||2143|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413C>T|||||2459|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695C>T|||||691|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957G>A|||||4113|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809G>A|||||4782|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041G>A|||||4786|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671G>A|||||4811|,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/22|n.2053C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|3/6|n.219C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/4|n.523C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/4|n.328C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|2/6|n.188C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|2/2|n.168C>T||||||,T|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/6|n.86C>T||||||
22	21349312	.	A	G	.	.	ANN=G|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|16/21|c.1939A>G|p.Ile647Val|2298/4572|1939/2523|647/840||,G|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|15/20|c.1882A>G|p.Ile628Val|1923/2625|1882/2466|628/821||,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.-1A>G|||||66|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.-1A>G|||||765|,G|upstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.-2A>G|||||973|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105T>C|||||4749|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457A>G|||||3338|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539A>G|||||3344|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031A>G|||||2175|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413A>G|||||2491|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695A>G|||||723|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957T>C|||||4081|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809T>C|||||4750|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041T>C|||||4754|,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671T>C|||||4779|,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|17/22|n.2085A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|3/6|n.251A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron|2/4|n.555A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron|2/4|n.360A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|2/6|n.220A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron|2/2|n.200A>G||||||,G|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|1/6|n.118A>G||||||
22	21350370	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding|18/21|c.2188G>A|p.Gly730Ser|2547/4572|2188/2523|730/840||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding|17/20|c.2131G>A|p.Gly711Ser|2172/2625|2131/2466|711/821||,A|missense_variant|MODERATE|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding|1/3|c.85G>A|p.Gly29Ser|86/2323|85/474|29/157||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|18/21|c.2188G>A||||||,A|sequence_feature|LOW|LZTR1|ENSG00000099949|domain:BTB_2|ENST00000215739|protein_coding|17/21|c.2188G>A||||||,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*323G>A|||||674|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*253G>A|||||604|,A|3_prime_UTR_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*185G>A|||||275|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding||c.*1105C>T|||||3691|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000414985|nonsense_mediated_decay||n.*457G>A|||||4396|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000480895|processed_transcript||n.*539G>A|||||4402|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000497716|processed_transcript||n.*1031G>A|||||3233|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000461510|retained_intron||n.*413G>A|||||3549|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000492480|retained_intron||n.*695G>A|||||1781|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||84|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||82|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||692|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.*1957C>T|||||3023|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.*1809C>T|||||3692|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding||c.*1041C>T|||||3696|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron||n.*1671C>T|||||3721|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>T|||||4149|,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>T|||||4191|,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript|19/22|n.2334G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay|6/6|n.*323G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay|5/6|n.*253G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay|3/6|n.*185G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron|2/4|n.903G>A||||||,A|non_coding_exon_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron|2/4|n.204G>A||||||
22	21354411	.	G	C	.	.	ANN=C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.688C>G|p.His230Asp|863/1213|688/930|230/309||,C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.688C>G|p.His230Asp|799/1144|688/930|230/309||,C|sequence_feature|LOW|THAP7|ENSG00000184436|short_sequence_motif:HCFC1-binding_motif__HBM_|ENST00000399133|protein_coding|5/5|c.688C>G||||||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>C|||||2086|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>C|||||1764|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>C|||||1800|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>C|||||1084|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>G|||||3619|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>C|||||2001|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>C|||||2656|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>C|||||4010|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>C|||||4125|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>C|||||4123|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>C|||||3410|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>C|||||4733|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>C|||||2581|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>C|||||1090|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>C|||||2353|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>C|||||1137|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080C>G|||||108|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507C>G|||||150|,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>G|||||1170|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>G|||||2773|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.939C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1460C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1351C>G||||||
22	21354503	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.596G>A|p.Arg199Gln|771/1213|596/930|199/309||,T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.596G>A|p.Arg199Gln|707/1144|596/930|199/309||,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||1994|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>T|||||1672|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||1708|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>T|||||1176|,T|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>A|||||3527|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>T|||||2093|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>T|||||2748|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>T|||||4102|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>T|||||4217|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>T|||||4215|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>T|||||3502|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>T|||||4825|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>T|||||2673|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>T|||||1182|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>T|||||2445|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>T|||||1229|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron||n.*1080G>A|||||16|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.*507G>A|||||58|,T|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>A|||||1078|,T|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>A|||||2681|,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.847G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1368G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1259G>A||||||
22	21354595	.	C	A	.	.	ANN=A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.504G>T|p.Glu168Asp|679/1213|504/930|168/309||,A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.504G>T|p.Glu168Asp|615/1144|504/930|168/309||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>A|||||1902|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>A|||||1580|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>A|||||1616|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>A|||||1268|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>T|||||3435|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>A|||||2185|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>A|||||2840|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>A|||||4194|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>A|||||4309|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>A|||||4307|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>A|||||3594|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566C>A|||||4917|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>A|||||2765|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>A|||||1274|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>A|||||2537|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>A|||||1321|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>T|||||986|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>T|||||2589|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.755G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1276G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1167G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.1004G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.473G>T||||||
22	21354621	.	G	A	.	.	ANN=A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.478C>T|p.Pro160Ser|653/1213|478/930|160/309||,A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.478C>T|p.Pro160Ser|589/1144|478/930|160/309||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>A|||||1876|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>A|||||1554|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>A|||||1590|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>A|||||1294|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>T|||||3409|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>A|||||2211|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>A|||||2866|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>A|||||4220|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>A|||||4335|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>A|||||4333|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>A|||||3620|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000464807|retained_intron||n.*566G>A|||||4943|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>A|||||2791|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>A|||||1300|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>A|||||2563|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>A|||||1347|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>T|||||960|,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>T|||||2563|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.729C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1250C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1141C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.978C>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.447C>T||||||
22	21354680	.	G	C	.	.	ANN=C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|4/4|c.419C>G|p.Pro140Arg|594/1213|419/930|140/309||,C|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|5/5|c.419C>G|p.Pro140Arg|530/1144|419/930|140/309||,C|sequence_feature|LOW|THAP7|ENSG00000184436|compositionally_biased_region:Poly-Pro|ENST00000399133|protein_coding|5/5|c.419C>G||||||,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1G>C|||||1817|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1G>C|||||1495|,C|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1G>C|||||1531|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882G>C|||||1353|,C|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192C>G|||||3350|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442G>C|||||2270|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507G>C|||||2925|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294G>C|||||4279|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720G>C|||||4394|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527G>C|||||4392|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334G>C|||||3679|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165G>C|||||2850|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505G>C|||||1359|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044G>C|||||2622|,C|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475G>C|||||1406|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653C>G|||||901|,C|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958C>G|||||2504|,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|3/3|n.670C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|2/2|n.1191C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|3/3|n.1082C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|4/4|n.919C>G||||||,C|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|3/3|n.388C>G||||||
22	21354970	.	C	G	.	.	ANN=G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|3/4|c.343G>C|p.Ala115Pro|518/1213|343/930|115/309||,G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|4/5|c.343G>C|p.Ala115Pro|454/1144|343/930|115/309||,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>G|||||1527|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>G|||||1205|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>G|||||1241|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>G|||||1643|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>C|||||3060|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>G|||||2560|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>G|||||3215|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415354|nonsense_mediated_decay||n.*294C>G|||||4569|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000495142|retained_intron||n.*720C>G|||||4684|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000491432|retained_intron||n.*527C>G|||||4682|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>G|||||3969|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>G|||||3140|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>G|||||1649|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>G|||||2912|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>G|||||1696|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||611|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>C|||||2214|,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|2/3|n.594G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.1115G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.1006G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.843G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|2/3|n.312G>C||||||
22	21355576	.	C	G	.	.	ANN=G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/4|c.205G>C|p.Glu69Gln|380/1213|205/930|69/309||,G|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/5|c.205G>C|p.Glu69Gln|316/1144|205/930|69/309||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.205G>C||||||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.205G>C||||||,G|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.205G>C||||||,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>G|||||921|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>G|||||599|,G|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>G|||||635|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>G|||||2249|,G|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>C|||||2454|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>G|||||3166|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>G|||||3821|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>G|||||4575|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>G|||||3746|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>G|||||2255|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>G|||||3518|,G|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>G|||||2302|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron||n.*653G>C|||||5|,G|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>C|||||1608|,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/3|n.456G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.509G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.400G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.237G>C||||||,G|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/3|n.232G>C||||||
22	21355612	.	C	A	.	.	ANN=A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|2/4|c.169G>T|p.Ala57Ser|344/1213|169/930|57/309||,A|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|3/5|c.169G>T|p.Ala57Ser|280/1144|169/930|57/309||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.169G>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.169G>T||||||,A|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.169G>T||||||,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>A|||||885|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense||n.-1C>A|||||563|,A|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>A|||||599|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>A|||||2285|,A|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>T|||||2418|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>A|||||3202|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>A|||||3857|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000439171|nonsense_mediated_decay||n.*334C>A|||||4611|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>A|||||3782|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>A|||||2291|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>A|||||3554|,A|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>A|||||2338|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>T|||||1572|,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron|1/3|n.420G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron|1/2|n.473G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|2/3|n.364G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|3/4|n.201G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron|1/3|n.196G>T||||||,A|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron|2/2|n.622G>T||||||
22	21356175	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000215742|protein_coding|1/4|c.26G>A|p.Gly9Asp|201/1213|26/930|9/309||,T|missense_variant|MODERATE|THAP7|ENSG00000184436|transcript|ENST00000399133|protein_coding|2/5|c.26G>A|p.Gly9Asp|137/1144|26/930|9/309||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|2/5|c.26G>A||||||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|4/5|c.26G>A||||||,T|sequence_feature|LOW|THAP7|ENSG00000184436|zinc_finger_region:THAP-type|ENST00000399133|protein_coding|3/5|c.26G>A||||||,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.-1C>T|||||322|,T|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000498406|retained_intron||n.-1G>A|||||144|,T|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471073|retained_intron||n.-1G>A|||||91|,T|upstream_gene_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000488975|retained_intron||n.-1G>A|||||368|,T|upstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000429962|antisense||n.-1C>T|||||36|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000215739|protein_coding||c.*2882C>T|||||2848|,T|downstream_gene_variant|MODIFIER|AC002472.1|ENSG00000269103|transcript|ENST00000547793|protein_coding||c.*192G>A|||||1855|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000479606|processed_transcript||n.*3442C>T|||||3765|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000389355|protein_coding||c.*2507C>T|||||4420|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000452988|nonsense_mediated_decay||n.*165C>T|||||4345|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000463909|retained_intron||n.*3505C>T|||||2854|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000498649|retained_intron||n.*1044C>T|||||4117|,T|downstream_gene_variant|MODIFIER|LZTR1|ENSG00000099949|transcript|ENST00000415817|protein_coding||c.*475C>T|||||2901|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000442739|transcribed_unprocessed_pseudogene||n.*958G>A|||||1009|,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000476667|retained_intron|1/3|n.221G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000466670|retained_intron|2/4|n.58G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7|ENSG00000184436|transcript|ENST00000471723|retained_intron|2/2|n.59G>A||||||,T|non_coding_exon_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000436079|antisense|1/2|n.1C>T||||||
22	21369521	.	T	C	.	.	ANN=C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|1/12|c.58T>C|p.Trp20Arg|206/3687|58/1326|20/441||,C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|1/10|c.28T>C|p.Trp10Arg|80/2512|28/213|10/70||,C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|1/12|c.28T>C|p.Trp10Arg|73/3554|28/1296|10/431||,C|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|1/12|c.58T>C|p.Trp20Arg|63/1834|58/1248|20/415||,C|5_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/13|c.-97T>C|||||97|,C|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1A>G|||||945|,C|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1A>G|||||940|,C|downstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.*2298T>C|||||4890|,C|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|1/2|n.70-710T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|1/10|n.58T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|1/3|n.58T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|1/5|n.49T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|1/13|n.46T>C||||||,C|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|1/11|n.43T>C||||||
22	21369611	.	G	A	.	.	ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|1/12|c.148G>A|p.Val50Met|296/3687|148/1326|50/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|1/12|c.118G>A|p.Val40Met|163/3554|118/1296|40/431||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/13|c.-7G>A||||||,A|5_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|1/13|c.-7G>A|||||7|,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000422086|processed_transcript||n.-1C>T|||||1035|,A|upstream_gene_variant|MODIFIER|TUBA3FP|ENSG00000161149|transcript|ENST00000292748|processed_transcript||n.-1C>T|||||1030|,A|downstream_gene_variant|MODIFIER|THAP7-AS1|ENSG00000230513|transcript|ENST00000452284|antisense||n.*2298G>A|||||4980|,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000591411|processed_transcript|1/2|n.70-620G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|1/9|c.56+62G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|1/9|n.86+62G>A||||||,A|intron_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|1/11|c.86+62G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron|1/3|n.148G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay|1/5|n.139G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|1/13|n.136G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|1/11|n.133G>A||||||
22	21377643	.	G	A	.	.	ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|7/12|c.718G>A|p.Val240Met|866/3687|718/1326|240/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|7/12|c.688G>A|p.Val230Met|733/3554|688/1296|230/431||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|7/12|c.640G>A|p.Val214Met|645/1834|640/1248|214/415||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|7/13|c.559G>A|p.Val187Met|701/2149|559/1167|187/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.640G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.640G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|5/10|c.*249G>A|||||407|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*249G>A|||||407|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*308G>A|||||656|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*249G>A|||||407|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||4563|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||202|,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*249G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*308G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*249G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|1/5|n.6G>A||||||
22	21377650	.	G	A	.	.	ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|7/12|c.725G>A|p.Arg242His|873/3687|725/1326|242/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|7/12|c.695G>A|p.Arg232His|740/3554|695/1296|232/431||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|7/12|c.647G>A|p.Arg216His|652/1834|647/1248|216/415||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|7/13|c.566G>A|p.Arg189His|708/2149|566/1167|189/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|3/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|8/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|10/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|6/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|7/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|9/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|4/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|5/12|c.647G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Extracellular|ENST00000401443|protein_coding|2/12|c.647G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|5/10|c.*256G>A|||||414|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*256G>A|||||414|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*315G>A|||||663|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*256G>A|||||414|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000469722|retained_intron||n.*1186G>A|||||4570|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||209|,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|5/10|n.*256G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|7/13|n.*315G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|5/11|n.*256G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron|1/5|n.13G>A||||||
22	21380895	.	G	A	.	.	ANN=A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding|12/12|c.1315G>A|p.Gly439Arg|1463/3687|1315/1326|439/441||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding|12/12|c.1285G>A|p.Gly429Arg|1330/3554|1285/1296|429/431||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding|12/12|c.1237G>A|p.Gly413Arg|1242/1834|1237/1248|413/415||,A|missense_variant|MODERATE|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding|12/13|c.1156G>A|p.Gly386Arg|1298/2149|1156/1167|386/388||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|11/12|c.1237G>A||||||,A|sequence_feature|LOW|P2RX6|ENSG00000099957|topological_domain:Cytoplasmic|ENST00000401443|protein_coding|12/12|c.1237G>A||||||,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding|10/10|c.*846G>A|||||3659|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*846G>A|||||3659|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*905G>A|||||3908|,A|3_prime_UTR_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*846G>A|||||3659|,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||4751|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding||c.*1976C>T|||||2112|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000452228|nonsense_mediated_decay||n.*361G>A|||||3454|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||9|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding||c.*1970C>T|||||2112|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||4962|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay|10/10|n.*846G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay|12/13|n.*905G>A||||||,A|non_coding_exon_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay|10/11|n.*846G>A||||||
22	21383420	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.1832G>A|p.Gly611Asp|1900/2313|1832/1908|611/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.1832G>A|p.Gly611Asp|1894/2307|1832/1908|611/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||2226|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||1124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||1123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||1933|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||1124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||1123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||1118|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||2534|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||2437|WARNING_TRANSCRIPT_INCOMPLETE
22	21383429	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|5/5|c.1823T>A|p.Phe608Tyr|1891/2313|1823/1908|608/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|5/5|c.1823T>A|p.Phe608Tyr|1885/2307|1823/1908|608/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>T|||||2217|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>T|||||310|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>T|||||1133|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>T|||||1132|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>T|||||310|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>T|||||1942|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>T|||||1133|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>T|||||1132|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>T|||||1127|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>T|||||2543|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>A|||||2428|WARNING_TRANSCRIPT_INCOMPLETE
22	21384206	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1417A>G|p.Ser473Gly|1485/2313|1417/1908|473/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1417A>G|p.Ser473Gly|1479/2307|1417/1908|473/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1T>C|||||1440|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474T>C|||||1087|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97A>G|||||4259|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265T>C|||||1910|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265T>C|||||1909|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341T>C|||||1087|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253T>C|||||2719|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309T>C|||||1910|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393T>C|||||1909|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306T>C|||||1904|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769T>C|||||3320|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416A>G|||||1651|WARNING_TRANSCRIPT_INCOMPLETE
22	21384275	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1348G>A|p.Ala450Thr|1416/2313|1348/1908|450/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1348G>A|p.Ala450Thr|1410/2307|1348/1908|450/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1371|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1156|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||4190|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||1979|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||1978|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1156|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||2788|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||1979|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||1978|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||1973|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3389|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1582|WARNING_TRANSCRIPT_INCOMPLETE
22	21384295	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1328A>G|p.Gln443Arg|1396/2313|1328/1908|443/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1328A>G|p.Gln443Arg|1390/2307|1328/1908|443/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1T>C|||||1351|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474T>C|||||1176|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97A>G|||||4170|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265T>C|||||1999|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265T>C|||||1998|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341T>C|||||1176|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253T>C|||||2808|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309T>C|||||1999|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393T>C|||||1998|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306T>C|||||1993|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769T>C|||||3409|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416A>G|||||1562|WARNING_TRANSCRIPT_INCOMPLETE
22	21384318	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1305G>T|p.Gln435His|1373/2313|1305/1908|435/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1305G>T|p.Gln435His|1367/2307|1305/1908|435/635||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>A|||||1328|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>A|||||1199|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>T|||||4147|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>A|||||2022|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>A|||||2021|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>A|||||1199|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>A|||||2831|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>A|||||2022|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>A|||||2021|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>A|||||2016|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>A|||||3432|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>T|||||1539|WARNING_TRANSCRIPT_INCOMPLETE
22	21384374	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1249T>A|p.Ser417Thr|1317/2313|1249/1908|417/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1249T>A|p.Ser417Thr|1311/2307|1249/1908|417/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>T|||||1272|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>T|||||1255|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>A|||||4091|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>T|||||2078|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>T|||||2077|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>T|||||1255|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>T|||||2887|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>T|||||2078|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>T|||||2077|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>T|||||2072|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>T|||||3488|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>A|||||1483|WARNING_TRANSCRIPT_INCOMPLETE
22	21384475	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1148T>G|p.Leu383Arg|1216/2313|1148/1908|383/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1148T>G|p.Leu383Arg|1210/2307|1148/1908|383/635||,C|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1148T>G||||||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>C|||||1171|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>C|||||1356|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>G|||||3990|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>C|||||2179|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>C|||||2178|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>C|||||1356|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>C|||||2988|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>C|||||2179|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>C|||||2178|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>C|||||2173|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>C|||||3589|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>G|||||1382|WARNING_TRANSCRIPT_INCOMPLETE
22	21384490	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1133C>T|p.Thr378Met|1201/2313|1133/1908|378/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1133C>T|p.Thr378Met|1195/2307|1133/1908|378/635||,A|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|3/5|c.1133C>T||||||,A|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>A|||||1156|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||1371|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||3975|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||2194|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||2193|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||1371|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||3003|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||2194|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||2193|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||2188|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>A|||||3604|,A|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>T|||||1367|WARNING_TRANSCRIPT_INCOMPLETE
22	21384532	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1091C>A|p.Thr364Lys|1159/2313|1091/1908|364/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1091C>A|p.Thr364Lys|1153/2307|1091/1908|364/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||1114|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||1413|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||3933|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>A|||||5000|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||2236|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||2235|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||1413|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||3045|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||2236|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||2235|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||2230|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||3646|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||1325|WARNING_TRANSCRIPT_INCOMPLETE
22	21384578	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1045G>A|p.Ala349Thr|1113/2313|1045/1908|349/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1045G>A|p.Ala349Thr|1107/2307|1045/1908|349/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1068|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1459|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3887|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4954|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||2282|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||2281|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1459|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3091|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||2282|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||2281|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||2276|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3692|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1279|WARNING_TRANSCRIPT_INCOMPLETE
22	21384598	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|3/5|c.1025G>A|p.Arg342His|1093/2313|1025/1908|342/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|3/5|c.1025G>A|p.Arg342His|1087/2307|1025/1908|342/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||1048|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||1479|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3867|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4934|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||2302|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||2301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||1479|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3111|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||2302|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||2301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||2296|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||3712|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||1259|WARNING_TRANSCRIPT_INCOMPLETE
22	21385191	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.911C>A|p.Ala304Glu|979/2313|911/1908|304/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.911C>A|p.Ala304Glu|973/2307|911/1908|304/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||455|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||2072|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||3274|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>A|||||4341|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||2895|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||2894|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||2072|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||3704|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||2895|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||2894|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||2889|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||4305|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||666|WARNING_TRANSCRIPT_INCOMPLETE
22	21385201	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.901C>A|p.Pro301Thr|969/2313|901/1908|301/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.901C>A|p.Pro301Thr|963/2307|901/1908|301/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>T|||||445|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>T|||||2082|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>A|||||3264|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>A|||||4331|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>T|||||2905|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>T|||||2904|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>T|||||2082|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>T|||||3714|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>T|||||2905|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>T|||||2904|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>T|||||2899|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>T|||||4315|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>A|||||656|WARNING_TRANSCRIPT_INCOMPLETE
22	21385393	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.709G>A|p.Val237Ile|777/2313|709/1908|237/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.709G>A|p.Val237Ile|771/2307|709/1908|237/635||,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.709G>A||||||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||253|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2274|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3072|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4139|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3097|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3096|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2274|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3906|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3097|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3096|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3091|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4507|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||464|WARNING_TRANSCRIPT_INCOMPLETE
22	21385420	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.682G>A|p.Gly228Ser|750/2313|682/1908|228/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.682G>A|p.Gly228Ser|744/2307|682/1908|228/635||,T|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1C>T|||||226|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2301|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||3045|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||4112|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2301|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||3933|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3124|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3123|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3118|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4534|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||437|WARNING_TRANSCRIPT_INCOMPLETE
22	21385427	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.675C>G|p.Asp225Glu|743/2313|675/1908|225/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.675C>G|p.Asp225Glu|737/2307|675/1908|225/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1G>C|||||219|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>C|||||2308|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>G|||||3038|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>G|||||4105|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>C|||||3131|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>C|||||3130|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>C|||||2308|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>C|||||3940|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>C|||||3131|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>C|||||3130|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>C|||||3125|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769G>C|||||4541|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416C>G|||||430|WARNING_TRANSCRIPT_INCOMPLETE
22	21385533	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.569T>G|p.Val190Gly|637/2313|569/1908|190/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.569T>G|p.Val190Gly|631/2307|569/1908|190/635||,C|upstream_gene_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense||n.-1A>C|||||113|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>C|||||2414|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>G|||||2932|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468T>G|||||3999|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>C|||||3237|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>C|||||3236|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>C|||||2414|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>C|||||4046|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>C|||||3237|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>C|||||3236|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>C|||||3231|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769A>C|||||4647|,C|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416T>G|||||324|WARNING_TRANSCRIPT_INCOMPLETE
22	21385770	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.332G>A|p.Gly111Asp|400/2313|332/1908|111/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.332G>A|p.Gly111Asp|394/2307|332/1908|111/635||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2651|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2695|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3762|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3474|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3473|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2651|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4283|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3474|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3473|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3468|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4884|,T|downstream_gene_variant|MODIFIER|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding||c.*416G>A|||||87|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/3|n.125C>T||||||
22	21385876	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.226G>A|p.Gly76Ser|294/2313|226/1908|76/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.226G>A|p.Gly76Ser|288/2307|226/1908|76/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.226G>A|p.Gly76Ser|397/416|226/245|76/80||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.226G>A||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2757|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2589|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3656|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3580|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3579|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2757|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4389|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3580|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3579|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3574|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000487342|retained_intron||n.*769C>T|||||4990|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+84C>T||||||
22	21385918	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.184G>A|p.Val62Met|252/2313|184/1908|62/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.184G>A|p.Val62Met|246/2307|184/1908|62/635||,T|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.184G>A|p.Val62Met|355/416|184/245|62/80||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.184G>A||||||,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474C>T|||||2799|,T|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97G>A|||||2547|,T|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468G>A|||||3614|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265C>T|||||3622|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265C>T|||||3621|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341C>T|||||2799|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253C>T|||||4431|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309C>T|||||3622|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393C>T|||||3621|,T|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306C>T|||||3616|,T|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+126C>T||||||
22	21385954	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.148A>G|p.Met50Val|216/2313|148/1908|50/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.148A>G|p.Met50Val|210/2307|148/1908|50/635||,C|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.148A>G|p.Met50Val|319/416|148/245|50/80||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SLC7A4|ENSG00000099960|transmembrane_region:Transmembrane_region|ENST00000403586|protein_coding|2/5|c.148A>G||||||,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474T>C|||||2835|,C|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97A>G|||||2511|,C|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468A>G|||||3578|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265T>C|||||3658|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265T>C|||||3657|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341T>C|||||2835|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253T>C|||||4467|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309T>C|||||3658|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393T>C|||||3657|,C|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306T>C|||||3652|,C|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+162T>C||||||
22	21386019	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.83C>T|p.Thr28Ile|151/2313|83/1908|28/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.83C>T|p.Thr28Ile|145/2307|83/1908|28/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.83C>T|p.Thr28Ile|254/416|83/245|28/80||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2900|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2446|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3513|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3723|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3722|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2900|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4532|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3723|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3722|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3717|,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+227G>A||||||
22	21386079	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.23T>C|p.Ile8Thr|91/2313|23/1908|8/635||,G|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.23T>C|p.Ile8Thr|85/2307|23/1908|8/635||,G|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.23T>C|p.Ile8Thr|194/416|23/245|8/80||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474A>G|||||2960|,G|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97T>C|||||2386|,G|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468T>C|||||3453|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265A>G|||||3783|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265A>G|||||3782|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341A>G|||||2960|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253A>G|||||4592|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309A>G|||||3783|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393A>G|||||3782|,G|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306A>G|||||3777|,G|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+287A>G||||||
22	21386095	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000382932|protein_coding|2/5|c.7C>T|p.Arg3Trp|75/2313|7/1908|3/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000403586|protein_coding|2/5|c.7C>T|p.Arg3Trp|69/2307|7/1908|3/635||,A|missense_variant|MODERATE|SLC7A4|ENSG00000099960|transcript|ENST00000426145|protein_coding|2/2|c.7C>T|p.Arg3Trp|178/416|7/245|3/80||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000413302|protein_coding||c.*1474G>A|||||2976|,A|downstream_gene_variant|MODIFIER|MIR649|ENSG00000207575|transcript|ENST00000384843|miRNA||n.*97C>T|||||2370|,A|downstream_gene_variant|MODIFIER|P2RX6P|ENSG00000206145|transcript|ENST00000439119|processed_transcript||n.*468C>T|||||3437|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000402329|protein_coding||c.*265G>A|||||3799|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000442475|nonsense_mediated_decay||n.*265G>A|||||3798|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000336296|protein_coding||c.*1341G>A|||||2976|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000401443|protein_coding||c.*1253G>A|||||4608|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000443995|protein_coding||c.*1309G>A|||||3799|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000432930|nonsense_mediated_decay||n.*393G>A|||||3798|,A|downstream_gene_variant|MODIFIER|P2RX6|ENSG00000099957|transcript|ENST00000422210|nonsense_mediated_decay||n.*306G>A|||||3793|,A|intron_variant|MODIFIER|AC002472.11|ENSG00000226872|transcript|ENST00000450652|antisense|1/2|n.147+303G>A||||||
22	21799251	.	A	G	.	.	ANN=G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.67A>G|p.Met23Val|297/6798|67/1848|23/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.67A>G|p.Met23Val|262/4734|67/1848|23/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.67A>G|p.Met23Val|439/6940|67/1848|23/615||
22	21799758	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.574C>T|p.Pro192Ser|804/6798|574/1848|192/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.574C>T|p.Pro192Ser|769/4734|574/1848|192/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.574C>T|p.Pro192Ser|946/6940|574/1848|192/615||
22	21799870	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.686G>T|p.Gly229Val|916/6798|686/1848|229/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.686G>T|p.Gly229Val|881/4734|686/1848|229/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.686G>T|p.Gly229Val|1058/6940|686/1848|229/615||
22	21799890	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.706G>A|p.Gly236Arg|936/6798|706/1848|236/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.706G>A|p.Gly236Arg|901/4734|706/1848|236/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.706G>A|p.Gly236Arg|1078/6940|706/1848|236/615||
22	21799907	.	C	G	.	.	ANN=G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.723C>G|p.Cys241Trp|953/6798|723/1848|241/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.723C>G|p.Cys241Trp|918/4734|723/1848|241/615||,G|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.723C>G|p.Cys241Trp|1095/6940|723/1848|241/615||
22	21800043	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.859C>T|p.Pro287Ser|1089/6798|859/1848|287/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.859C>T|p.Pro287Ser|1054/4734|859/1848|287/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.859C>T|p.Pro287Ser|1231/6940|859/1848|287/615||
22	21800049	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.865G>A|p.Val289Ile|1095/6798|865/1848|289/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.865G>A|p.Val289Ile|1060/4734|865/1848|289/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.865G>A|p.Val289Ile|1237/6940|865/1848|289/615||
22	21800269	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1085C>T|p.Pro362Leu|1315/6798|1085/1848|362/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1085C>T|p.Pro362Leu|1280/4734|1085/1848|362/615||,T|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1085C>T|p.Pro362Leu|1457/6940|1085/1848|362/615||
22	21800277	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1093G>A|p.Glu365Lys|1323/6798|1093/1848|365/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1093G>A|p.Glu365Lys|1288/4734|1093/1848|365/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1093G>A|p.Glu365Lys|1465/6940|1093/1848|365/615||
22	21800610	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1426G>C|p.Ala476Pro|1656/6798|1426/1848|476/615||,C|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1426G>C|p.Ala476Pro|1621/4734|1426/1848|476/615||,C|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1426G>C|p.Ala476Pro|1798/6940|1426/1848|476/615||
22	21800967	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407464|protein_coding|3/3|c.1783G>A|p.Gly595Arg|2013/6798|1783/1848|595/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000407598|protein_coding|3/3|c.1783G>A|p.Gly595Arg|1978/4734|1783/1848|595/615||,A|missense_variant|MODERATE|HIC2|ENSG00000169635|transcript|ENST00000443632|protein_coding|2/2|c.1783G>A|p.Gly595Arg|2155/6940|1783/1848|595/615||,A|sequence_feature|LOW|HIC2|ENSG00000169635|zinc_finger_region:C2H2-type_5|ENST00000407598|protein_coding|3/3|c.1783G>A||||||
22	21982892	.	C	T	.	.	ANN=T|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.787G>A|p.Ala263Thr|837/1351|787/972|263/323||,T|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*435G>A|||||777|,T|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*159G>A|||||159|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162C>T|||||4126|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175C>T|||||4113|,T|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115C>T|||||4115|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663C>T|||||4569|,T|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451C>T|||||4569|,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1099G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.909G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*435G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.1005G>A||||||,T|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.907G>A||||||
22	21982924	.	G	C	.	.	ANN=C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.755C>G|p.Pro252Arg|805/1351|755/972|252/323||,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*403C>G|||||745|,C|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*127C>G|||||127|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||4094|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||4081|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||4083|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>C|||||4601|,C|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>C|||||4601|,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1067C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.877C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*403C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.973C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.875C>G||||||
22	21982978	.	G	A	.	.	ANN=A|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|5/5|c.701C>T|p.Ala234Val|751/1351|701/972|234/323||,A|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*349C>T|||||691|,A|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|4/4|c.*73C>T|||||73|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>A|||||4040|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>A|||||4027|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>A|||||4029|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>A|||||4655|,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>A|||||4655|,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|3/3|n.1013C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|2/2|n.823C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|5/5|n.*349C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|4/4|n.919C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|4/4|n.821C>T||||||
22	21983314	.	G	A	.	.	ANN=A|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|4/5|c.587C>T|p.Ser196Phe|637/1351|587/972|196/323||,A|3_prime_UTR_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/5|n.*235C>T|||||355|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>A|||||3704|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>A|||||3691|,A|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>A|||||3693|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000342192|protein_coding||c.*663G>A|||||4991|,A|downstream_gene_variant|MODIFIER|UBE2L3|ENSG00000185651|transcript|ENST00000496722|retained_intron||n.*3451G>A|||||4991|,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/1|n.725-238C>T||||||,A|intron_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/3|c.425-238C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/3|n.899C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|4/5|n.*235C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|3/4|n.805C>T||||||,A|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/4|n.707C>T||||||
22	21983693	.	G	C	.	.	ANN=C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|3/5|c.328C>G|p.Arg110Gly|378/1351|328/972|110/323||,C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|3/4|c.328C>G|p.Arg110Gly|350/1142|328/450|110/149||,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||3325|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||3312|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||3314|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|2/3|n.520C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.628C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|3/5|n.387C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|2/4|n.546C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|3/4|n.328C>G||||||
22	21984246	.	G	C	.	.	ANN=C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding|1/5|c.58C>G|p.Arg20Gly|108/1351|58/972|20/323||,C|missense_variant|MODERATE|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding|1/4|c.58C>G|p.Arg20Gly|80/1142|58/450|20/149||,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding||c.-162G>C|||||2772|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.-175G>C|||||2759|,C|upstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.-115G>C|||||2761|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron|1/3|n.56C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron|1/2|n.75C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay|1/5|n.58C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron|1/4|n.82C>G||||||,C|non_coding_exon_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron|1/4|n.58C>G||||||
22	21988423	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.185G>A|p.Arg62Gln|346/2260|185/1842|62/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.185G>A|p.Arg62Gln|359/1913|185/1581|62/526||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding|3/3|c.383G>A|p.Arg128Gln|497/572|383/458|128/151||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4070|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4122|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4103|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4070|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4098|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4096|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4120|
22	21988524	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.286C>T|p.Arg96Cys|447/2260|286/1842|96/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.286C>T|p.Arg96Cys|460/1913|286/1581|96/526||,T|sequence_feature|LOW|CCDC116|ENSG00000161180|coiled-coil_region|ENST00000292779|protein_coding|3/5|c.286C>T||||||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4171|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4223|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4204|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4171|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4199|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4197|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4221|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||26|WARNING_TRANSCRIPT_INCOMPLETE
22	21988563	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.325G>T|p.Val109Leu|486/2260|325/1842|109/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.325G>T|p.Val109Leu|499/1913|325/1581|109/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>A|||||4210|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>A|||||4262|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>A|||||4243|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>A|||||4210|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>A|||||4238|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>A|||||4236|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>A|||||4260|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>T|||||65|WARNING_TRANSCRIPT_INCOMPLETE
22	21988578	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.340C>A|p.Pro114Thr|501/2260|340/1842|114/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.340C>A|p.Pro114Thr|514/1913|340/1581|114/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>T|||||4225|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>T|||||4277|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>T|||||4258|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>T|||||4225|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>T|||||4253|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>T|||||4251|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>T|||||4275|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>A|||||80|WARNING_TRANSCRIPT_INCOMPLETE
22	21988599	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.361G>A|p.Gly121Arg|522/2260|361/1842|121/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.361G>A|p.Gly121Arg|535/1913|361/1581|121/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4246|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4298|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4279|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4246|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4274|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4272|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4296|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||101|WARNING_TRANSCRIPT_INCOMPLETE
22	21988602	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.364C>T|p.Arg122Trp|525/2260|364/1842|122/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.364C>T|p.Arg122Trp|538/1913|364/1581|122/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4249|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4301|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4282|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4249|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4277|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4275|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4299|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||104|WARNING_TRANSCRIPT_INCOMPLETE
22	21988641	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.403C>T|p.Arg135Trp|564/2260|403/1842|135/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.403C>T|p.Arg135Trp|577/1913|403/1581|135/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4288|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4340|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4321|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4288|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4316|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4314|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4338|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||143|WARNING_TRANSCRIPT_INCOMPLETE
22	21988648	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.410G>A|p.Arg137His|571/2260|410/1842|137/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.410G>A|p.Arg137His|584/1913|410/1581|137/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4295|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4347|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4328|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4295|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4323|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4321|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4345|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||150|WARNING_TRANSCRIPT_INCOMPLETE
22	21988654	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.416G>A|p.Arg139Gln|577/2260|416/1842|139/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.416G>A|p.Arg139Gln|590/1913|416/1581|139/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4301|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4353|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4334|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4301|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4329|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4327|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4351|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||156|WARNING_TRANSCRIPT_INCOMPLETE
22	21988738	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.500G>A|p.Gly167Asp|661/2260|500/1842|167/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.500G>A|p.Gly167Asp|674/1913|500/1581|167/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4385|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4437|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4418|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4385|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4413|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4411|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4435|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||240|WARNING_TRANSCRIPT_INCOMPLETE
22	21988758	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.520C>T|p.Arg174Trp|681/2260|520/1842|174/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.520C>T|p.Arg174Trp|694/1913|520/1581|174/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4405|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4457|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4438|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4405|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4433|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4431|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4455|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||260|WARNING_TRANSCRIPT_INCOMPLETE
22	21988774	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.536G>A|p.Gly179Asp|697/2260|536/1842|179/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.536G>A|p.Gly179Asp|710/1913|536/1581|179/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4421|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4473|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4454|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4421|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4449|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4447|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4471|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||276|WARNING_TRANSCRIPT_INCOMPLETE
22	21988833	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.595C>T|p.Arg199Trp|756/2260|595/1842|199/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.595C>T|p.Arg199Trp|769/1913|595/1581|199/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4480|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4532|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4513|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4480|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4508|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4506|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4530|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||335|WARNING_TRANSCRIPT_INCOMPLETE
22	21988834	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.596G>A|p.Arg199Gln|757/2260|596/1842|199/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.596G>A|p.Arg199Gln|770/1913|596/1581|199/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4481|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4533|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4514|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4481|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4509|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4507|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4531|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||336|WARNING_TRANSCRIPT_INCOMPLETE
22	21988854	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|3/5|c.616G>A|p.Glu206Lys|777/2260|616/1842|206/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|3/4|c.616G>A|p.Glu206Lys|790/1913|616/1581|206/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4501|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4553|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4534|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4501|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4529|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4527|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4551|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||356|WARNING_TRANSCRIPT_INCOMPLETE
22	21989008	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.656C>G|p.Ser219Cys|817/2260|656/1842|219/613||,G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.656C>G|p.Ser219Cys|830/1913|656/1581|219/526||,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>C|||||4655|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>C|||||4707|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>C|||||4688|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>C|||||4655|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>C|||||4683|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>C|||||4681|,G|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>C|||||4705|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>G|||||510|WARNING_TRANSCRIPT_INCOMPLETE
22	21989092	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.740G>T|p.Gly247Val|901/2260|740/1842|247/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.740G>T|p.Gly247Val|914/1913|740/1581|247/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>A|||||4739|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>A|||||4791|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>A|||||4772|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>A|||||4739|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>A|||||4767|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>A|||||4765|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>A|||||4789|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>T|||||594|WARNING_TRANSCRIPT_INCOMPLETE
22	21989106	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.754G>A|p.Val252Met|915/2260|754/1842|252/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.754G>A|p.Val252Met|928/1913|754/1581|252/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4753|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4805|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4786|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4753|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4781|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4779|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4803|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||608|WARNING_TRANSCRIPT_INCOMPLETE
22	21989142	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.790G>A|p.Glu264Lys|951/2260|790/1842|264/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.790G>A|p.Glu264Lys|964/1913|790/1581|264/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4789|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4841|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4822|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4789|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4817|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4815|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4839|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||644|WARNING_TRANSCRIPT_INCOMPLETE
22	21989154	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.802C>T|p.Arg268Cys|963/2260|802/1842|268/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.802C>T|p.Arg268Cys|976/1913|802/1581|268/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4801|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4853|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4834|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4801|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4829|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4827|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4851|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||656|WARNING_TRANSCRIPT_INCOMPLETE
22	21989179	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.827T>A|p.Ile276Asn|988/2260|827/1842|276/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.827T>A|p.Ile276Asn|1001/1913|827/1581|276/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51A>T|||||4826|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1A>T|||||4878|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1A>T|||||4859|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51A>T|||||4826|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23A>T|||||4854|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1A>T|||||4852|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1A>T|||||4876|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>A|||||681|WARNING_TRANSCRIPT_INCOMPLETE
22	21989194	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.842G>C|p.Ser281Thr|1003/2260|842/1842|281/613||,C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.842G>C|p.Ser281Thr|1016/1913|842/1581|281/526||,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>G|||||4841|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>G|||||4893|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>G|||||4874|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>G|||||4841|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>G|||||4869|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>G|||||4867|,C|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>G|||||4891|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>C|||||696|WARNING_TRANSCRIPT_INCOMPLETE
22	21989230	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.878C>T|p.Pro293Leu|1039/2260|878/1842|293/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.878C>T|p.Pro293Leu|1052/1913|878/1581|293/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4877|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4929|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4910|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4877|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4905|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4903|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4927|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||732|WARNING_TRANSCRIPT_INCOMPLETE
22	21989236	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.884G>A|p.Arg295His|1045/2260|884/1842|295/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.884G>A|p.Arg295His|1058/1913|884/1581|295/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4883|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4935|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4916|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4883|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4911|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4909|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4933|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||738|WARNING_TRANSCRIPT_INCOMPLETE
22	21989241	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.889C>T|p.Pro297Ser|1050/2260|889/1842|297/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.889C>T|p.Pro297Ser|1063/1913|889/1581|297/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4888|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1G>A|||||4940|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1G>A|||||4921|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4888|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||4916|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4914|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1G>A|||||4938|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||743|WARNING_TRANSCRIPT_INCOMPLETE
22	21989248	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.896G>A|p.Arg299His|1057/2260|896/1842|299/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.896G>A|p.Arg299His|1070/1913|896/1581|299/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4895|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000464015|retained_intron||n.-1C>T|||||4947|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000468686|retained_intron||n.-1C>T|||||4928|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4895|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23C>T|||||4923|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1C>T|||||4921|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000482998|retained_intron||n.-1C>T|||||4945|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||750|WARNING_TRANSCRIPT_INCOMPLETE
22	21989325	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.973C>T|p.Arg325Cys|1134/2260|973/1842|325/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.973C>T|p.Arg325Cys|1147/1913|973/1581|325/526||,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51G>A|||||4972|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51G>A|||||4972|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000398873|protein_coding||c.-23G>A|||||5000|,T|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000473985|retained_intron||n.-1G>A|||||4998|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||827|WARNING_TRANSCRIPT_INCOMPLETE
22	21989346	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.994G>A|p.Gly332Ser|1155/2260|994/1842|332/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.994G>A|p.Gly332Ser|1168/1913|994/1581|332/526||,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000292778|protein_coding||c.-51C>T|||||4993|,A|upstream_gene_variant|MODIFIER|YDJC|ENSG00000161179|transcript|ENST00000415762|nonsense_mediated_decay||n.-51C>T|||||4993|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||848|WARNING_TRANSCRIPT_INCOMPLETE
22	21989397	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1045C>G|p.Leu349Val|1206/2260|1045/1842|349/613||,G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1045C>G|p.Leu349Val|1219/1913|1045/1581|349/526||,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>G|||||899|WARNING_TRANSCRIPT_INCOMPLETE
22	21989451	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1099C>T|p.Arg367Cys|1260/2260|1099/1842|367/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1099C>T|p.Arg367Cys|1273/1913|1099/1581|367/526||,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||953|WARNING_TRANSCRIPT_INCOMPLETE
22	21989467	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1115G>C|p.Ser372Thr|1276/2260|1115/1842|372/613||,C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1115G>C|p.Ser372Thr|1289/1913|1115/1581|372/526||,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>C|||||969|WARNING_TRANSCRIPT_INCOMPLETE
22	21989490	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1138C>T|p.Arg380Cys|1299/2260|1138/1842|380/613||,T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1138C>T|p.Arg380Cys|1312/1913|1138/1581|380/526||,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||992|WARNING_TRANSCRIPT_INCOMPLETE
22	21989491	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|4/5|c.1139G>A|p.Arg380His|1300/2260|1139/1842|380/613||,A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding|4/4|c.1139G>A|p.Arg380His|1313/1913|1139/1581|380/526||,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||993|WARNING_TRANSCRIPT_INCOMPLETE
22	21990752	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1235A>G|p.Lys412Arg|1396/2260|1235/1842|412/613||,G|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1A>G|||||4381|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755A>G|||||661|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572A>G|||||2254|WARNING_TRANSCRIPT_INCOMPLETE
22	21990823	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1306G>A|p.Ala436Thr|1467/2260|1306/1842|436/613||,A|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>A|||||4310|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>A|||||732|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||2325|WARNING_TRANSCRIPT_INCOMPLETE
22	21990914	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1397T>G|p.Phe466Cys|1558/2260|1397/1842|466/613||,G|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1T>G|||||4219|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755T>G|||||823|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>G|||||2416|WARNING_TRANSCRIPT_INCOMPLETE
22	21991072	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1555T>C|p.Cys519Arg|1716/2260|1555/1842|519/613||,C|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1T>C|||||4061|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755T>C|||||981|,C|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572T>C|||||2574|WARNING_TRANSCRIPT_INCOMPLETE
22	21991120	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1603G>A|p.Ala535Thr|1764/2260|1603/1842|535/613||,A|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1G>A|||||4013|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755G>A|||||1029|,A|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572G>A|||||2622|WARNING_TRANSCRIPT_INCOMPLETE
22	21991147	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1630C>T|p.Arg544Cys|1791/2260|1630/1842|544/613||,T|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1C>T|||||3986|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755C>T|||||1056|,T|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572C>T|||||2649|WARNING_TRANSCRIPT_INCOMPLETE
22	21991307	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC116|ENSG00000161180|transcript|ENST00000292779|protein_coding|5/5|c.1790A>G|p.Asp597Gly|1951/2260|1790/1842|597/613||,G|upstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.-1A>G|||||3826|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000607942|protein_coding||c.*1755A>G|||||1216|,G|downstream_gene_variant|MODIFIER|CCDC116|ENSG00000161180|transcript|ENST00000425975|protein_coding||c.*572A>G|||||2809|WARNING_TRANSCRIPT_INCOMPLETE
22	21996653	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/3|c.28G>C|p.Ala10Pro|104/865|28/666|10/221||,C|sequence_feature|LOW|SDF2L1|ENSG00000128228|signal_peptide|ENST00000248958|protein_coding|1/3|c.28G>C||||||,C|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>C|||||1080|,C|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/2|n.11G>C||||||
22	21996722	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|1/3|c.97G>A|p.Ala33Thr|173/865|97/666|33/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.97G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.97G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||1149|,A|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|1/2|n.80G>A||||||
22	21997156	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|2/3|c.193G>A|p.Gly65Ser|269/865|193/666|65/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|2/3|c.193G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_1|ENST00000248958|protein_coding|1/3|c.193G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||1583|,A|non_coding_exon_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron|2/2|n.176G>A||||||
22	21998219	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.421G>A|p.Asp141Asn|497/865|421/666|141/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.421G>A||||||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.421G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2646|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||638|
22	21998222	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.424C>G|p.Leu142Val|500/865|424/666|142/221||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|3/3|c.424C>G||||||,G|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_2|ENST00000248958|protein_coding|2/3|c.424C>G||||||,G|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441C>G|||||2649|,G|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601C>G|||||641|
22	21998280	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.482G>A|p.Arg161His|558/865|482/666|161/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_3|ENST00000248958|protein_coding|3/3|c.482G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2707|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||699|
22	21998310	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.512T>C|p.Leu171Pro|588/865|512/666|171/221||,C|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_3|ENST00000248958|protein_coding|3/3|c.512T>C||||||,C|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441T>C|||||2737|,C|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601T>C|||||729|
22	21998346	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.548G>A|p.Arg183His|624/865|548/666|183/221||,A|sequence_feature|LOW|SDF2L1|ENSG00000128228|domain:MIR_3|ENST00000248958|protein_coding|3/3|c.548G>A||||||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2773|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||765|
22	21998448	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SDF2L1|ENSG00000128228|transcript|ENST00000248958|protein_coding|3/3|c.650G>A|p.Gly217Asp|726/865|650/666|217/221||,A|downstream_gene_variant|MODIFIER|KB-1440D3.14|ENSG00000273342|transcript|ENST00000609038|lincRNA||n.*441G>A|||||2875|,A|downstream_gene_variant|MODIFIER|SDF2L1|ENSG00000128228|transcript|ENST00000466935|retained_intron||n.*601G>A|||||867|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||
22	22024887	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|3/21|c.115T>C|p.Phe39Leu|231/2709|115/1584|39/527||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|3/21|c.115T>C|p.Phe39Leu|206/4929|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|3/21|c.115T>C|p.Phe39Leu|193/1841|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|3/20|c.115T>C|p.Phe39Leu|193/2574|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|4/8|c.208T>C|p.Phe70Leu|285/557|208/480|70/159||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|3/21|c.115T>C|p.Phe39Leu|175/3875|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|3/20|c.115T>C|p.Phe39Leu|146/1870|115/1470|39/489||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.115T>C||||||,C|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.115T>C||||||,C|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/22|n.*51T>C|||||256|,C|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript||n.-1T>C|||||1732|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093T>C|||||361|,C|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494T>C|||||315|,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|4/22|n.*51T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|4/11|n.299T>C||||||,C|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron|3/3|n.136T>C||||||
22	22026654	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|5/21|c.227A>G|p.Asn76Ser|343/2709|227/1584|76/527||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|5/21|c.227A>G|p.Asn76Ser|318/4929|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|5/21|c.227A>G|p.Asn76Ser|305/1841|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|5/20|c.227A>G|p.Asn76Ser|305/2574|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding|6/8|c.320A>G|p.Asn107Ser|397/557|320/480|107/159||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|5/21|c.227A>G|p.Asn76Ser|287/3875|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|4/20|c.164A>G|p.Asn55Ser|195/1870|164/1470|55/489||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|3/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|6/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|4/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|5/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000412327|protein_coding|7/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|3/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|6/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|4/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|5/21|c.227A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:U-box|ENST00000492445|protein_coding|7/21|c.227A>G||||||,G|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|6/22|n.*163A>G|||||2023|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498589|processed_transcript||n.*1093A>G|||||2128|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000496819|retained_intron||n.*494A>G|||||2082|,G|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000498109|retained_intron||n.*563A>G|||||1340|,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|6/22|n.*163A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|6/11|n.411A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000485930|processed_transcript|1/2|n.36A>G||||||
22	22036763	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.425G>A|p.Arg142Gln|541/2709|425/1584|142/527||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.425G>A|p.Arg142Gln|516/4929|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.425G>A|p.Arg142Gln|503/1841|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.425G>A|p.Arg142Gln|503/2574|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.425G>A|p.Arg142Gln|485/3875|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.362G>A|p.Arg121Gln|393/1870|362/1470|121/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*361G>A|||||12132|,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||3199|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||1084|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*361G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.609G>A||||||
22	22036780	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|8/21|c.442G>A|p.Glu148Lys|558/2709|442/1584|148/527||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|8/21|c.442G>A|p.Glu148Lys|533/4929|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|8/21|c.442G>A|p.Glu148Lys|520/1841|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|8/20|c.442G>A|p.Glu148Lys|520/2574|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|8/21|c.442G>A|p.Glu148Lys|502/3875|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|7/20|c.379G>A|p.Glu127Lys|410/1870|379/1470|127/489||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*378G>A|||||12149|,A|upstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript||n.-1G>A|||||3182|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000458567|protein_coding||c.*557G>A|||||1101|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|9/22|n.*378G>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript|9/11|n.626G>A||||||
22	22040836	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|11/21|c.779C>T|p.Thr260Ile|895/2709|779/1584|260/527||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|11/21|c.779C>T|p.Thr260Ile|870/4929|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|11/21|c.779C>T|p.Thr260Ile|857/1841|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|11/20|c.779C>T|p.Thr260Ile|857/2574|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|11/21|c.779C>T|p.Thr260Ile|839/3875|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|10/20|c.716C>T|p.Thr239Ile|747/1870|716/1470|239/489||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*804C>T|||||16205|,T|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>T|||||1669|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|13/22|n.*804C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|2/12|n.119C>T||||||
22	22042377	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1119/2709|1003/1584|335/527||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1094/4929|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1081/1841|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|14/20|c.1003C>A|p.Pro335Thr|1081/2574|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|14/21|c.1003C>A|p.Pro335Thr|1063/3875|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|13/20|c.940C>A|p.Pro314Thr|971/1870|940/1470|314/489||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|13/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|18/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|14/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|15/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|12/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|17/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000412327|protein_coding|16/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|13/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|18/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|14/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|15/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|12/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|17/21|c.1003C>A||||||,A|sequence_feature|LOW|PPIL2|ENSG00000100023|domain:PPIase_cyclophilin-type|ENST00000492445|protein_coding|16/21|c.1003C>A||||||,A|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/22|n.*1028C>A|||||17746|,A|downstream_gene_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000484439|processed_transcript||n.*863C>A|||||3210|,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|16/22|n.*1028C>A||||||,A|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|5/12|n.343C>A||||||
22	22049099	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1441/2709|1325/1584|442/527||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1416/4929|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1403/1841|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|18/20|c.1325A>G|p.Asp442Gly|1403/2574|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|18/21|c.1325A>G|p.Asp442Gly|1385/3875|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|17/20|c.1262A>G|p.Asp421Gly|1293/1870|1262/1470|421/489||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1325A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1325A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1325A>G||||||,G|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1325A>G||||||,G|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/22|n.*1350A>G|||||24468|,G|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744T>C|||||2734|,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|20/22|n.*1350A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|9/12|n.665A>G||||||,G|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|1/3|n.150A>G||||||
22	22049230	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/21|c.1337C>T|p.Ala446Val|1453/2709|1337/1584|446/527||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/21|c.1337C>T|p.Ala446Val|1428/4929|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/21|c.1337C>T|p.Ala446Val|1415/1841|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/20|c.1337C>T|p.Ala446Val|1415/2574|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/21|c.1337C>T|p.Ala446Val|1397/3875|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/20|c.1274C>T|p.Ala425Val|1305/1870|1274/1470|425/489||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|18/21|c.1337C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000412327|protein_coding|19/21|c.1337C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|18/21|c.1337C>T||||||,T|sequence_feature|LOW|PPIL2|ENSG00000100023|helix|ENST00000492445|protein_coding|19/21|c.1337C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1362C>T|||||24599|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2603|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1362C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/12|n.677C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.162C>T||||||
22	22049263	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000412327|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1486/2709|1370/1584|457/527||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000335025|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1461/4929|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000492445|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1448/1841|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000398831|protein_coding|19/20|c.1370C>T|p.Pro457Leu|1448/2574|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|ENSG00000100023|transcript|ENST00000406385|protein_coding|19/21|c.1370C>T|p.Pro457Leu|1430/3875|1370/1563|457/520||,T|splice_region_variant&intron_variant|LOW|PPIL2|ENSG00000100023|transcript|ENST00000456792|protein_coding|18/19|c.1299+8C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1395C>T|||||24632|,T|downstream_gene_variant|MODIFIER|YPEL1|ENSG00000100027|transcript|ENST00000339468|protein_coding||c.*744G>A|||||2570|,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000417788|nonsense_mediated_decay|21/22|n.*1395C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000446951|processed_transcript|10/12|n.710C>T||||||,T|non_coding_exon_variant|MODIFIER|PPIL2|ENSG00000100023|transcript|ENST00000462188|retained_intron|2/3|n.195C>T||||||
22	22161974	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MAPK1|ENSG00000100030|transcript|ENST00000215832|protein_coding|2/9|c.281C>T|p.Thr94Ile|470/11022|281/1083|94/360||,A|missense_variant|MODERATE|MAPK1|ENSG00000100030|transcript|ENST00000398822|protein_coding|2/8|c.281C>T|p.Thr94Ile|521/1487|281/1083|94/360||,A|missense_variant|MODERATE|MAPK1|ENSG00000100030|transcript|ENST00000544786|protein_coding|2/7|c.281C>T|p.Thr94Ile|281/951|281/951|94/316||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|3/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|1/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|2/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|6/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|4/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|7/8|c.281C>T||||||,A|sequence_feature|LOW|MAPK1|ENSG00000100030|domain:Protein_kinase|ENST00000398822|protein_coding|5/8|c.281C>T||||||
22	22277485	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1345C>G|p.Gln449Glu|1451/5143|1345/1365|449/454||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.841C>G|p.Gln281Glu|1902/5587|841/861|281/286||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.1033C>G|p.Gln345Glu|1349/1634|1033/1053|345/350||,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript||n.*544C>G|||||13|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>G|||||1764|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>G|||||1764|
22	22277571	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1259T>G|p.Leu420Arg|1365/5143|1259/1365|420/454||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.755T>G|p.Leu252Arg|1816/5587|755/861|252/286||,C|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.947T>G|p.Leu316Arg|1263/1634|947/1053|316/350||,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348T>G|||||1678|,C|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186T>G|||||1678|,C|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.471T>G||||||
22	22277631	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1199G>A|p.Arg400Gln|1305/5143|1199/1365|400/454||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.695G>A|p.Arg232Gln|1756/5587|695/861|232/286||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.887G>A|p.Arg296Gln|1203/1634|887/1053|296/350||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>A|||||1618|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>A|||||1618|,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.411G>A||||||
22	22277667	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1163G>A|p.Arg388His|1269/5143|1163/1365|388/454||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.659G>A|p.Arg220His|1720/5587|659/861|220/286||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.851G>A|p.Arg284His|1167/1634|851/1053|284/350||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>A|||||1582|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>A|||||1582|,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.375G>A||||||
22	22277784	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1046C>T|p.Thr349Met|1152/5143|1046/1365|349/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.542C>T|p.Thr181Met|1603/5587|542/861|181/286||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.734C>T|p.Thr245Met|1050/1634|734/1053|245/350||,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1465|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1465|,A|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.258C>T||||||
22	22277793	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1037G>A|p.Arg346Gln|1143/5143|1037/1365|346/454||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.533G>A|p.Arg178Gln|1594/5587|533/861|178/286||,T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.725G>A|p.Arg242Gln|1041/1634|725/1053|242/350||,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348G>A|||||1456|,T|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186G>A|||||1456|,T|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.249G>A||||||
22	22277794	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|8/8|c.1036C>T|p.Arg346Trp|1142/5143|1036/1365|346/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|6/6|c.532C>T|p.Arg178Trp|1593/5587|532/861|178/286||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|6/6|c.724C>T|p.Arg242Trp|1040/1634|724/1053|242/350||,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.*348C>T|||||1455|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding||c.*1186C>T|||||1455|,A|non_coding_exon_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|3/3|n.248C>T||||||
22	22279929	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|7/7|c.998G>A|p.Arg333Lys|1098/1778|998/1086|333/361||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|7/7|c.985+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|5/5|c.481+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|5/5|c.673+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000496143|processed_transcript|2/2|n.197+13G>A||||||,T|intron_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript|2/2|n.195+13G>A||||||
22	22285632	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|6/8|c.779C>T|p.Ala260Val|885/5143|779/1365|260/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|4/6|c.275C>T|p.Ala92Val|1336/5587|275/861|92/286||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|4/6|c.467C>T|p.Ala156Val|783/1634|467/1053|156/350||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|6/7|c.779C>T|p.Ala260Val|879/1778|779/1086|260/361||,A|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1C>T|||||12|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding||c.*650C>T|||||6|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.*576C>T|||||2764|WARNING_TRANSCRIPT_NO_STOP_CODON
22	22288560	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|4/8|c.394C>T|p.Arg132Cys|500/5143|394/1365|132/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding|2/6|c.82C>T|p.Arg28Cys|398/1634|82/1053|28/350||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|4/7|c.394C>T|p.Arg132Cys|494/1778|394/1086|132/361||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding|2/2|c.82C>T|p.Arg28Cys|412/576|82/246|28/81||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/6|c.-111C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/5|c.-111C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding|2/6|c.-111C>T|||||111|,A|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|3/5|c.-111C>T|||||111|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.-1G>A|||||4105|,A|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000484588|processed_transcript||n.-1C>T|||||2940|,A|upstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense||n.-1G>A|||||4049|,A|downstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.*583C>T|||||2774|
22	22293938	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|3/8|c.321G>C|p.Glu107Asp|427/5143|321/1365|107/454||,G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|3/7|c.321G>C|p.Glu107Asp|421/1778|321/1086|107/361||,G|sequence_feature|LOW|PPM1F|ENSG00000100034|compositionally_biased_region:Poly-Glu|ENST00000263212|protein_coding|3/8|c.321G>C||||||,G|5_prime_UTR_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000445205|protein_coding|2/5|c.-184G>C|||||5489|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000407142|protein_coding||c.-1062G>C|||||982|,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000538191|protein_coding||c.-317G>C|||||1004|,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000424647|protein_coding||c.-331G>C|||||990|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|PPM1F|ENSG00000100034|transcript|ENST00000486259|processed_transcript||n.-1G>C|||||1035|,G|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense|1/2|n.1274C>G||||||,G|non_coding_exon_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000538634|antisense|1/1|n.1330C>G||||||
22	22300281	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.140C>T|p.Thr47Met|246/5143|140/1365|47/454||,A|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.140C>T|p.Thr47Met|240/1778|140/1086|47/361||,A|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647G>A|||||2482|
22	22300380	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000263212|protein_coding|2/8|c.41G>C|p.Ser14Thr|147/5143|41/1365|14/454||,G|missense_variant|MODERATE|PPM1F|ENSG00000100034|transcript|ENST00000397495|protein_coding|2/7|c.41G>C|p.Ser14Thr|141/1778|41/1086|14/361||,G|downstream_gene_variant|MODIFIER|LL22NC03-86G7.1|ENSG00000224086|transcript|ENST00000458178|antisense||n.*3647C>G|||||2581|
22	22313053	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|17/18|c.1918C>T|p.Arg640Cys|2103/2863|1918/2589|640/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|11/11|c.1300C>T|p.Arg434Cys|1302/2956|1300/1575|434/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|17/18|c.1918C>T|p.Arg640Cys|2353/3107|1918/2589|640/862||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|17/18|n.*1754C>T|||||12375|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|17/17|n.*1964C>T|||||12375|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|10/10|n.*734C>T|||||4233|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525C>T|||||841|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624C>T|||||3447|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|17/18|n.*1754C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|17/17|n.*1964C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|10/10|n.*734C>T||||||
22	22313598	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|16/18|c.1811A>G|p.Asp604Gly|1996/2863|1811/2589|604/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|10/11|c.1193A>G|p.Asp398Gly|1195/2956|1193/1575|398/524||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|16/18|c.1811A>G|p.Asp604Gly|2246/3107|1811/2589|604/862||,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/18|n.*1647A>G|||||11830|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1857A>G|||||11830|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/10|n.*627A>G|||||3688|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding||c.*1525A>G|||||296|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624A>G|||||2902|,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|16/18|n.*1647A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1857A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|9/10|n.*627A>G||||||
22	22314027	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|15/18|c.1736G>A|p.Arg579His|1921/2863|1736/2589|579/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|9/11|c.1118G>A|p.Arg373His|1120/2956|1118/1575|373/524||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|15/18|c.1736G>A|p.Arg579His|2171/3107|1736/2589|579/862||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|15/18|n.*1572G>A|||||11401|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1428G>A|||||11401|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|8/10|n.*552G>A|||||3259|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|13/13|c.*375G>A|||||2637|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.*624G>A|||||2473|,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|15/18|n.*1572G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|16/17|n.*1428G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|8/10|n.*552G>A||||||
22	22316765	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.748G>A|p.Val250Ile|1424/2033|748/849|250/282||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1525+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.907+36G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1361+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1525+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1217+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*341+36G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.359G>A||||||
22	22316792	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.721G>A|p.Ala241Thr|1397/2033|721/849|241/282||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/17|c.1525+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/10|c.907+9G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/17|n.*1361+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/17|c.1525+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/16|n.*1217+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/9|n.*341+9G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.332G>A||||||
22	22316863	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|13/18|c.1463C>T|p.Thr488Met|1648/2863|1463/2589|488/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|7/11|c.845C>T|p.Thr282Met|847/2956|845/1575|282/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|13/18|c.1463C>T|p.Thr488Met|1898/3107|1463/2589|488/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|11/13|c.650C>T|p.Thr217Met|1326/2033|650/849|217/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1299C>T|||||8565|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/17|n.*1155C>T|||||8565|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/10|n.*279C>T|||||423|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1299C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|14/17|n.*1155C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|6/10|n.*279C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|2/2|n.261C>T||||||
22	22317154	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1316T>C|p.Leu439Pro|1501/2863|1316/2589|439/862||,G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.698T>C|p.Leu233Pro|700/2956|698/1575|233/524||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1316T>C|p.Leu439Pro|1751/3107|1316/2589|439/862||,G|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.503T>C|p.Leu168Pro|1179/2033|503/849|168/282||,G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1008T>C|||||8274|,G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*1008T>C|||||8274|,G|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*132T>C|||||132|,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*1008T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*1008T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*132T>C||||||,G|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.114T>C||||||
22	22317165	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1305T>G|p.Ile435Met|1490/2863|1305/2589|435/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.687T>G|p.Ile229Met|689/2956|687/1575|229/524||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1305T>G|p.Ile435Met|1740/3107|1305/2589|435/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.492T>G|p.Ile164Met|1168/2033|492/849|164/282||,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*997T>G|||||8263|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*997T>G|||||8263|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*121T>G|||||121|,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*997T>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*997T>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*121T>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.103T>G||||||
22	22317256	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|12/18|c.1214C>T|p.Ala405Val|1399/2863|1214/2589|405/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|6/11|c.596C>T|p.Ala199Val|598/2956|596/1575|199/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|12/18|c.1214C>T|p.Ala405Val|1649/3107|1214/2589|405/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|10/13|c.401C>T|p.Ala134Val|1077/2033|401/849|134/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*906C>T|||||8172|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*906C>T|||||8172|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*30C>T|||||30|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|13/18|n.*906C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|13/17|n.*906C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|5/10|n.*30C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron|1/2|n.12C>T||||||
22	22318346	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/18|c.1153G>A|p.Gly385Ser|1338/2863|1153/2589|385/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/11|c.535G>A|p.Gly179Ser|537/2956|535/1575|179/524||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/18|c.1153G>A|p.Gly385Ser|1588/3107|1153/2589|385/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/13|c.340G>A|p.Gly114Ser|1016/2033|340/849|114/282||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*845G>A|||||7082|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*845G>A|||||7082|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1G>A|||||1079|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824G>A|||||4645|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*845G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*845G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/10|n.349G>A||||||
22	22318354	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/18|c.1145A>G|p.His382Arg|1330/2863|1145/2589|382/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/11|c.527A>G|p.His176Arg|529/2956|527/1575|176/524||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/18|c.1145A>G|p.His382Arg|1580/3107|1145/2589|382/862||,C|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/13|c.332A>G|p.His111Arg|1008/2033|332/849|111/282||,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*837A>G|||||7074|,C|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*837A>G|||||7074|,C|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1A>G|||||1087|,C|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824A>G|||||4637|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*837A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*837A>G||||||,C|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/10|n.341A>G||||||
22	22318364	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|11/18|c.1135C>T|p.Arg379Trp|1320/2863|1135/2589|379/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|5/11|c.517C>T|p.Arg173Trp|519/2956|517/1575|173/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|11/18|c.1135C>T|p.Arg379Trp|1570/3107|1135/2589|379/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|9/13|c.322C>T|p.Arg108Trp|998/2033|322/849|108/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*827C>T|||||7064|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*827C>T|||||7064|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1097|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4627|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|12/18|n.*827C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|12/17|n.*827C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|4/10|n.331C>T||||||
22	22318538	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.1093G>A|p.Asp365Asn|1278/2863|1093/2589|365/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.475G>A|p.Asp159Asn|477/2956|475/1575|159/524||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.1093G>A|p.Asp365Asn|1528/3107|1093/2589|365/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.280G>A|p.Asp94Asn|956/2033|280/849|94/282||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*785G>A|||||6890|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*785G>A|||||6890|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1G>A|||||1271|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824G>A|||||4453|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*785G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*785G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.289G>A||||||
22	22318568	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.1063C>T|p.Arg355Trp|1248/2863|1063/2589|355/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.445C>T|p.Arg149Trp|447/2956|445/1575|149/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.1063C>T|p.Arg355Trp|1498/3107|1063/2589|355/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.250C>T|p.Arg84Trp|926/2033|250/849|84/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*755C>T|||||6860|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*755C>T|||||6860|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1301|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4423|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*755C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*755C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.259C>T||||||
22	22318660	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|10/18|c.971C>T|p.Thr324Met|1156/2863|971/2589|324/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|4/11|c.353C>T|p.Thr118Met|355/2956|353/1575|118/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|10/18|c.971C>T|p.Thr324Met|1406/3107|971/2589|324/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|8/13|c.158C>T|p.Thr53Met|834/2033|158/849|53/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*663C>T|||||6768|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*663C>T|||||6768|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||1393|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||4331|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|11/18|n.*663C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|11/17|n.*663C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|3/10|n.167C>T||||||
22	22319665	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|9/18|c.935C>T|p.Ser312Phe|1120/2863|935/2589|312/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|3/11|c.317C>T|p.Ser106Phe|319/2956|317/1575|106/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|9/18|c.935C>T|p.Ser312Phe|1370/3107|935/2589|312/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|7/13|c.122C>T|p.Ser41Phe|798/2033|122/849|41/282||,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|10/18|n.*627C>T|||||5763|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|10/17|n.*627C>T|||||5763|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000470338|retained_intron||n.-1C>T|||||2398|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding||c.*824C>T|||||3326|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|10/18|n.*627C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|10/17|n.*627C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay|2/10|n.131C>T||||||
22	22323019	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|7/18|c.710C>T|p.Pro237Leu|895/2863|710/2589|237/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding|1/11|c.92C>T|p.Pro31Leu|94/2956|92/1575|31/524||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|7/18|c.710C>T|p.Pro237Leu|1145/3107|710/2589|237/862||,A|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|7/7|c.710C>T|p.Pro237Leu|796/824|710/738|237/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|5/13|c.-104C>T|||||1006|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*402C>T|||||2409|,A|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*402C>T|||||2409|,A|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1C>T|||||997|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron||n.*725C>T|||||1688|,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550C>T|||||3248|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582C>T|||||3250|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789C>T|||||3572|,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|8/18|n.*402C>T||||||,A|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|8/17|n.*402C>T||||||
22	22324717	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000357179|protein_coding|6/18|c.446G>A|p.Arg149Gln|631/2863|446/2589|149/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000398793|protein_coding|6/18|c.446G>A|p.Arg149Gln|881/3107|446/2589|149/862||,T|missense_variant|MODERATE|TOP3B|ENSG00000100038|transcript|ENST00000424393|protein_coding|6/7|c.446G>A|p.Arg149Gln|532/824|446/738|149/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|6/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|4/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|3/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|5/18|c.446G>A||||||,T|sequence_feature|LOW|TOP3B|ENSG00000100038|domain:Toprim|ENST00000357179|protein_coding|2/18|c.446G>A||||||,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*138G>A|||||711|,T|3_prime_UTR_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*138G>A|||||711|,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457270|protein_coding||c.-3G>A|||||1605|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000436282|nonsense_mediated_decay||n.-1G>A|||||2695|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437929|protein_coding||c.*550G>A|||||1550|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000430142|protein_coding||c.*582G>A|||||1552|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000489581|retained_intron||n.*789G>A|||||1874|,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000456075|protein_coding||c.*561G>A|||||4031|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000449704|protein_coding||c.*543G>A|||||4034|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000442653|protein_coding||c.*400G>A|||||4074|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000437103|protein_coding||c.*571G>A|||||4088|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000413067|protein_coding|4/12|c.-232-1570G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000457179|nonsense_mediated_decay|7/18|n.*138G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000444502|nonsense_mediated_decay|7/17|n.*138G>A||||||,T|non_coding_exon_variant|MODIFIER|TOP3B|ENSG00000100038|transcript|ENST00000487485|retained_intron|2/2|n.715G>A||||||
22	22599424	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.113G>A|p.Arg38His|252/755|113/438|38/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.110G>A|p.Arg37His|133/626|110/435|37/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Framework-1|ENST00000403807|protein_coding|2/2|c.113G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.113G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|beta_strand|ENST00000403807|protein_coding|2/2|c.113G>A||||||
22	22599537	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.226G>A|p.Asp76Asn|365/755|226/438|76/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.223G>A|p.Asp75Asn|246/626|223/435|75/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.226G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|disulfide_bond|ENST00000403807|protein_coding|2/2|c.226G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Complementarity-determining-2|ENST00000403807|protein_coding|2/2|c.226G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|beta_strand|ENST00000403807|protein_coding|2/2|c.226G>A||||||
22	22599549	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.238G>A|p.Gly80Ser|377/755|238/438|80/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.235G>A|p.Gly79Ser|258/626|235/435|79/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.238G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|disulfide_bond|ENST00000403807|protein_coding|2/2|c.238G>A||||||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|region_of_interest:Complementarity-determining-2|ENST00000403807|protein_coding|2/2|c.238G>A||||||
22	22599666	.	G	T	.	.	ANN=T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.355G>T|p.Ala119Ser|494/755|355/438|119/145||,T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.352G>T|p.Ala118Ser|375/626|352/435|118/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.355G>T||||||
22	22599669	.	C	T	.	.	ANN=T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.358C>T|p.Arg120Cys|497/755|358/438|120/145||,T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.355C>T|p.Arg119Cys|378/626|355/435|119/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.358C>T||||||
22	22599670	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.359G>A|p.Arg120His|498/755|359/438|120/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.356G>A|p.Arg119His|379/626|356/435|119/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.359G>A||||||
22	22599676	.	C	T	.	.	ANN=T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.365C>T|p.Ser122Leu|504/755|365/438|122/145||,T|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.362C>T|p.Ser121Leu|385/626|362/435|121/144||,T|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.365C>T||||||
22	22599705	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.394G>A|p.Glu132Lys|533/755|394/438|132/145||,A|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.391G>A|p.Glu131Lys|414/626|391/435|131/144||,A|sequence_feature|LOW|VPREB1|ENSG00000169575|domain:Ig-like_V-type|ENST00000403807|protein_coding|2/2|c.394G>A||||||
22	22599714	.	A	G	.	.	ANN=G|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000403807|protein_coding|2/2|c.403A>G|p.Met135Val|542/755|403/438|135/145||,G|missense_variant|MODERATE|VPREB1|ENSG00000169575|transcript|ENST00000302273|protein_coding|2/2|c.400A>G|p.Met134Val|423/626|400/435|134/144||
22	22842308	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1416C>G|p.Phe472Leu|2192/5726|1416/1632|472/543||,C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1416C>G|p.Phe472Leu|2159/4818|1416/1632|472/543||,C|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_4|ENST00000406426|protein_coding|4/5|c.1416C>G||||||
22	22842336	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1388C>T|p.Ser463Phe|2164/5726|1388/1632|463/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1388C>T|p.Ser463Phe|2131/4818|1388/1632|463/543||,A|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_4|ENST00000406426|protein_coding|4/5|c.1388C>T||||||
22	22842484	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1240G>A|p.Val414Ile|2016/5726|1240/1632|414/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1240G>A|p.Val414Ile|1983/4818|1240/1632|414/543||
22	22842637	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1087G>A|p.Glu363Lys|1863/5726|1087/1632|363/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1087G>A|p.Glu363Lys|1830/4818|1087/1632|363/543||,T|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_1|ENST00000406426|protein_coding|4/5|c.1087G>A||||||
22	22842660	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.1064C>T|p.Pro355Leu|1840/5726|1064/1632|355/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.1064C>T|p.Pro355Leu|1807/4818|1064/1632|355/543||,A|sequence_feature|LOW|ZNF280B|ENSG00000198477|zinc_finger_region:C2H2-type_1|ENST00000406426|protein_coding|4/5|c.1064C>T||||||
22	22842787	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.937G>A|p.Val313Met|1713/5726|937/1632|313/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.937G>A|p.Val313Met|1680/4818|937/1632|313/543||
22	22842828	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.896C>T|p.Pro299Leu|1672/5726|896/1632|299/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.896C>T|p.Pro299Leu|1639/4818|896/1632|299/543||
22	22842957	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.767A>C|p.Glu256Ala|1543/5726|767/1632|256/543||,G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.767A>C|p.Glu256Ala|1510/4818|767/1632|256/543||
22	22843191	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.533T>C|p.Phe178Ser|1309/5726|533/1632|178/543||,G|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.533T>C|p.Phe178Ser|1276/4818|533/1632|178/543||
22	22843224	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.500A>G|p.Glu167Gly|1276/5726|500/1632|167/543||,C|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.500A>G|p.Glu167Gly|1243/4818|500/1632|167/543||
22	22843284	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.440C>T|p.Thr147Ile|1216/5726|440/1632|147/543||,A|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.440C>T|p.Thr147Ile|1183/4818|440/1632|147/543||
22	22843423	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding|4/4|c.301G>A|p.Val101Ile|1077/5726|301/1632|101/543||,T|missense_variant|MODERATE|ZNF280B|ENSG00000198477|transcript|ENST00000406426|protein_coding|4/5|c.301G>A|p.Val101Ile|1044/4818|301/1632|101/543||
22	22868493	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1462C>A|p.Arg488Ser|1715/2148|1462/1629|488/542||,T|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>A|||||4988|,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>T|||||3623|
22	22868497	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1458C>G|p.Phe486Leu|1711/2148|1458/1629|486/542||,C|upstream_gene_variant|MODIFIER|ZNF280B|ENSG00000198477|transcript|ENST00000360412|protein_coding||c.-777C>G|||||4992|,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>C|||||3619|
22	22868570	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1385C>T|p.Thr462Met|1638/2148|1385/1629|462/542||,A|sequence_feature|LOW|ZNF280A|ENSG00000169548|zinc_finger_region:C2H2-type_4|ENST00000302097|protein_coding|2/2|c.1385C>T||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||3546|
22	22868692	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.1263G>T|p.Lys421Asn|1516/2148|1263/1629|421/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>A|||||3424|
22	22869123	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.832A>G|p.Asn278Asp|1085/2148|832/1629|278/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>C|||||2993|
22	22869129	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.826C>T|p.Leu276Phe|1079/2148|826/1629|276/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>A|||||2987|
22	22869170	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.785A>C|p.Asn262Thr|1038/2148|785/1629|262/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>G|||||2946|
22	22869209	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.746G>C|p.Gly249Ala|999/2148|746/1629|249/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>G|||||2907|
22	22869218	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.737A>G|p.Asn246Ser|990/2148|737/1629|246/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>C|||||2898|
22	22869470	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.485C>G|p.Ser162Cys|738/2148|485/1629|162/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>C|||||2646|
22	22869477	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.478G>A|p.Glu160Lys|731/2148|478/1629|160/542||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>T|||||2639|
22	22869528	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.427C>A|p.Pro143Thr|680/2148|427/1629|143/542||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1G>T|||||2588|
22	22869545	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.410A>C|p.Tyr137Ser|663/2148|410/1629|137/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>G|||||2571|
22	22869684	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.271A>C|p.Asn91His|524/2148|271/1629|91/542||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>G|||||2432|
22	22869742	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.213G>T|p.Lys71Asn|466/2148|213/1629|71/542||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1C>A|||||2374|
22	22869888	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNF280A|ENSG00000169548|transcript|ENST00000302097|protein_coding|2/2|c.67A>G|p.Arg23Gly|320/2148|67/1629|23/542||,C|upstream_gene_variant|MODIFIER|snoU13|ENSG00000239066|transcript|ENST00000459485|snoRNA||n.-1T>C|||||2228|
22	22890562	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1764/2202|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1757/2196|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1457C>G|p.Pro486Arg|2320/2758|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1743/2179|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1409C>G|p.Pro470Arg|1789/2223|1409/1482|470/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1457C>G|p.Pro486Arg|1684/2057|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1409C>G|p.Pro470Arg|1527/1766|1409/1482|470/493||,C|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1457C>G||||||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>G|||||1934|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>G|||||2043|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>G|||||2081|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>G|||||2106|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>G|||||2159|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>G|||||2614|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>G|||||2679|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>G|||||2712|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2392C>G||||||
22	22890593	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1733/2202|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1726/2196|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1426C>T|p.Arg476Trp|2289/2758|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1712/2179|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1378C>T|p.Arg460Trp|1758/2223|1378/1482|460/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1426C>T|p.Arg476Trp|1653/2057|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1378C>T|p.Arg460Trp|1496/1766|1378/1482|460/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1426C>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||1903|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||2012|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||2050|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||2075|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||2128|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||2583|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||2648|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||2681|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2361C>T||||||
22	22890642	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1684/2202|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1677/2196|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1377G>T|p.Arg459Ser|2240/2758|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1663/2179|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1329G>T|p.Arg443Ser|1709/2223|1329/1482|443/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1377G>T|p.Arg459Ser|1604/2057|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1329G>T|p.Arg443Ser|1447/1766|1329/1482|443/493||,A|sequence_feature|LOW|PRAME|ENSG00000185686|region_of_interest:Mediates_interaction_with_RARA|ENST00000402697|protein_coding|6/6|c.1377G>T||||||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>T|||||1854|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>T|||||1963|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>T|||||2001|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>T|||||2026|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>T|||||2079|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>T|||||2534|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>T|||||2599|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>T|||||2632|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2312G>T||||||
22	22890869	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1150G>A|p.Val384Ile|1457/2202|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1150G>A|p.Val384Ile|1450/2196|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1150G>A|p.Val384Ile|2013/2758|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1150G>A|p.Val384Ile|1436/2179|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1102G>A|p.Val368Ile|1482/2223|1102/1482|368/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1150G>A|p.Val384Ile|1377/2057|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1102G>A|p.Val368Ile|1220/1766|1102/1482|368/493||,T|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_3|ENST00000402697|protein_coding|6/6|c.1150G>A||||||,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||1627|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||1736|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||1774|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||1799|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||1852|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||2307|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||2372|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||2405|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2085G>A||||||
22	22890941	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|6/6|c.1078A>C|p.Met360Leu|1385/2202|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|6/6|c.1078A>C|p.Met360Leu|1378/2196|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|5/5|c.1078A>C|p.Met360Leu|1941/2758|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|6/6|c.1078A>C|p.Met360Leu|1364/2179|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|4/4|c.1030A>C|p.Met344Leu|1410/2223|1030/1482|344/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|6/6|c.1078A>C|p.Met360Leu|1305/2057|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|4/4|c.1030A>C|p.Met344Leu|1148/1766|1030/1482|344/493||,G|sequence_feature|LOW|PRAME|ENSG00000185686|repeat:LRR_2|ENST00000402697|protein_coding|6/6|c.1078A>C||||||,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>C|||||1555|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>C|||||1664|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>C|||||1702|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>C|||||1727|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>C|||||1780|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>C|||||2235|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>C|||||2300|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>C|||||2333|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|5/5|n.2013A>C||||||
22	22892196	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1212/2202|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1205/2196|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.905A>G|p.Tyr302Cys|1768/2758|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1191/2179|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.857A>G|p.Tyr286Cys|1237/2223|857/1482|286/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.905A>G|p.Tyr302Cys|1132/2057|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.857A>G|p.Tyr286Cys|975/1766|857/1482|286/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||300|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||409|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||447|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||472|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||525|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||980|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||1045|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||1078|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1840A>G||||||
22	22892268	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.833C>T|p.Pro278Leu|1140/2202|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.833C>T|p.Pro278Leu|1133/2196|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.833C>T|p.Pro278Leu|1696/2758|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.833C>T|p.Pro278Leu|1119/2179|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.785C>T|p.Pro262Leu|1165/2223|785/1482|262/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.833C>T|p.Pro278Leu|1060/2057|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.785C>T|p.Pro262Leu|903/1766|785/1482|262/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||228|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||337|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||375|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||400|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||453|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||908|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||973|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||1006|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1768C>T||||||
22	22892308	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.793C>G|p.Leu265Val|1100/2202|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.793C>G|p.Leu265Val|1093/2196|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.793C>G|p.Leu265Val|1656/2758|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.793C>G|p.Leu265Val|1079/2179|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.745C>G|p.Leu249Val|1125/2223|745/1482|249/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.793C>G|p.Leu265Val|1020/2057|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.745C>G|p.Leu249Val|863/1766|745/1482|249/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>G|||||188|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>G|||||297|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>G|||||335|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>G|||||360|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>G|||||413|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>G|||||868|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>G|||||933|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>G|||||966|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1728C>G||||||
22	22892314	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.787C>T|p.Arg263Cys|1094/2202|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.787C>T|p.Arg263Cys|1087/2196|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.787C>T|p.Arg263Cys|1650/2758|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.787C>T|p.Arg263Cys|1073/2179|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.739C>T|p.Arg247Cys|1119/2223|739/1482|247/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.787C>T|p.Arg263Cys|1014/2057|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.739C>T|p.Arg247Cys|857/1766|739/1482|247/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||182|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||291|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||329|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||354|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||407|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||862|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||927|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||960|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1722C>T||||||
22	22892362	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.739C>T|p.Pro247Ser|1046/2202|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.739C>T|p.Pro247Ser|1039/2196|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.739C>T|p.Pro247Ser|1602/2758|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.739C>T|p.Pro247Ser|1025/2179|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.691C>T|p.Pro231Ser|1071/2223|691/1482|231/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.739C>T|p.Pro247Ser|966/2057|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.691C>T|p.Pro231Ser|809/1766|691/1482|231/493||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566C>T|||||243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705C>T|||||281|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589C>T|||||306|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709C>T|||||359|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731C>T|||||814|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||879|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||912|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1674C>T||||||
22	22892449	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.652A>G|p.Met218Val|959/2202|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.652A>G|p.Met218Val|952/2196|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.652A>G|p.Met218Val|1515/2758|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.652A>G|p.Met218Val|938/2179|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.604A>G|p.Met202Val|984/2223|604/1482|202/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.652A>G|p.Met218Val|879/2057|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.604A>G|p.Met202Val|722/1766|604/1482|202/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||47|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||156|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||194|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||219|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||272|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||727|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||792|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||825|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1587A>G||||||
22	22892481	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.620G>A|p.Arg207His|927/2202|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.620G>A|p.Arg207His|920/2196|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.620G>A|p.Arg207His|1483/2758|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.620G>A|p.Arg207His|906/2179|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.572G>A|p.Arg191His|952/2223|572/1482|191/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.620G>A|p.Arg207His|847/2057|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.572G>A|p.Arg191His|690/1766|572/1482|191/493||,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566G>A|||||124|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705G>A|||||162|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589G>A|||||187|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709G>A|||||240|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731G>A|||||695|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341G>A|||||760|,T|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567G>A|||||793|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1555G>A||||||
22	22892490	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.611A>G|p.Asn204Ser|918/2202|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.611A>G|p.Asn204Ser|911/2196|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.611A>G|p.Asn204Ser|1474/2758|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.611A>G|p.Asn204Ser|897/2179|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.563A>G|p.Asn188Ser|943/2223|563/1482|188/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.611A>G|p.Asn204Ser|838/2057|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.563A>G|p.Asn188Ser|681/1766|563/1482|188/493||,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding||c.*891A>G|||||6|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566A>G|||||115|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705A>G|||||153|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589A>G|||||178|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709A>G|||||231|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731A>G|||||686|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341A>G|||||751|,C|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567A>G|||||784|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1546A>G||||||
22	22892514	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.587T>C|p.Ile196Thr|894/2202|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.587T>C|p.Ile196Thr|887/2196|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.587T>C|p.Ile196Thr|1450/2758|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.587T>C|p.Ile196Thr|873/2179|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.539T>C|p.Ile180Thr|919/2223|539/1482|180/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.587T>C|p.Ile196Thr|814/2057|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.539T>C|p.Ile180Thr|657/1766|539/1482|180/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|5/5|c.587T>C|p.Ile196Thr|873/891|587/605|196/200||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||91|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||129|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||154|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||207|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||662|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||727|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||760|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1522T>C||||||
22	22892556	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|5/6|c.545T>C|p.Phe182Ser|852/2202|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|5/6|c.545T>C|p.Phe182Ser|845/2196|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|4/5|c.545T>C|p.Phe182Ser|1408/2758|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|5/6|c.545T>C|p.Phe182Ser|831/2179|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|3/4|c.497T>C|p.Phe166Ser|877/2223|497/1482|166/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|5/6|c.545T>C|p.Phe182Ser|772/2057|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|3/4|c.497T>C|p.Phe166Ser|615/1766|497/1482|166/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|5/5|c.545T>C|p.Phe182Ser|831/891|545/605|182/200||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding||c.*566T>C|||||49|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding||c.*705T>C|||||87|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript||n.*589T>C|||||112|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript||n.*709T>C|||||165|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding||c.*731T>C|||||620|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341T>C|||||685|,G|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567T>C|||||718|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|4/5|n.1480T>C||||||
22	22893196	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.337C>T|p.Arg113Cys|644/2202|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.337C>T|p.Arg113Cys|637/2196|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.337C>T|p.Arg113Cys|1200/2758|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.337C>T|p.Arg113Cys|623/2179|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.289C>T|p.Arg97Cys|669/2223|289/1482|97/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.337C>T|p.Arg113Cys|564/2057|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.289C>T|p.Arg97Cys|407/1766|289/1482|97/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.337C>T|p.Arg113Cys|623/891|337/605|113/200||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.406C>T|p.Arg136Cys|407/566|406/565|136/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.337C>T|p.Arg113Cys|584/705|337/458|113/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.337C>T|p.Arg113Cys|720/740|337/348|113/115||,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay||n.*341C>T|||||45|,A|downstream_gene_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding||c.*567C>T|||||78|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1272C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.493C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.666C>T||||||
22	22893297	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.236C>T|p.Thr79Ile|543/2202|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.236C>T|p.Thr79Ile|536/2196|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.236C>T|p.Thr79Ile|1099/2758|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.236C>T|p.Thr79Ile|522/2179|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.188C>T|p.Thr63Ile|568/2223|188/1482|63/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.236C>T|p.Thr79Ile|463/2057|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.188C>T|p.Thr63Ile|306/1766|188/1482|63/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.236C>T|p.Thr79Ile|522/891|236/605|79/200||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.305C>T|p.Thr102Ile|306/566|305/565|102/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.236C>T|p.Thr79Ile|483/705|236/458|79/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.236C>T|p.Thr79Ile|619/740|236/348|79/115||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.236C>T|p.Thr79Ile|544/567|236/259|79/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*184C>T|||||184|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1171C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.392C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.565C>T||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*184C>T||||||
22	22893392	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.141G>C|p.Leu47Phe|448/2202|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.141G>C|p.Leu47Phe|441/2196|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.141G>C|p.Leu47Phe|1004/2758|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.141G>C|p.Leu47Phe|427/2179|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.93G>C|p.Leu31Phe|473/2223|93/1482|31/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.141G>C|p.Leu47Phe|368/2057|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.93G>C|p.Leu31Phe|211/1766|93/1482|31/493||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.141G>C|p.Leu47Phe|427/891|141/605|47/200||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.210G>C|p.Leu70Phe|211/566|210/565|70/187||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.141G>C|p.Leu47Phe|388/705|141/458|47/151||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.141G>C|p.Leu47Phe|524/740|141/348|47/115||,G|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.141G>C|p.Leu47Phe|449/567|141/259|47/85||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*89G>C|||||89|,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1076G>C||||||,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.297G>C||||||,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.470G>C||||||,G|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*89G>C||||||
22	22893394	.	A	T	.	.	ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.139T>A|p.Leu47Met|446/2202|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.139T>A|p.Leu47Met|439/2196|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.139T>A|p.Leu47Met|1002/2758|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.139T>A|p.Leu47Met|425/2179|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.91T>A|p.Leu31Met|471/2223|91/1482|31/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.139T>A|p.Leu47Met|366/2057|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.91T>A|p.Leu31Met|209/1766|91/1482|31/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.139T>A|p.Leu47Met|425/891|139/605|47/200||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.208T>A|p.Leu70Met|209/566|208/565|70/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.139T>A|p.Leu47Met|386/705|139/458|47/151||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.139T>A|p.Leu47Met|522/740|139/348|47/115||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.139T>A|p.Leu47Met|447/567|139/259|47/85||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*87T>A|||||87|,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1074T>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.295T>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.468T>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*87T>A||||||
22	22893403	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.130G>A|p.Ala44Thr|437/2202|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.130G>A|p.Ala44Thr|430/2196|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.130G>A|p.Ala44Thr|993/2758|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.130G>A|p.Ala44Thr|416/2179|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.82G>A|p.Ala28Thr|462/2223|82/1482|28/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.130G>A|p.Ala44Thr|357/2057|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.82G>A|p.Ala28Thr|200/1766|82/1482|28/493||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.130G>A|p.Ala44Thr|416/891|130/605|44/200||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.199G>A|p.Ala67Thr|200/566|199/565|67/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.130G>A|p.Ala44Thr|377/705|130/458|44/151||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.130G>A|p.Ala44Thr|513/740|130/348|44/115||,T|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.130G>A|p.Ala44Thr|438/567|130/259|44/85||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*78G>A|||||78|,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1065G>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.286G>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.459G>A||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*78G>A||||||
22	22893463	.	G	A,C,T	.	.	ANN=A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.70C>T|p.Arg24Trp|377/2202|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.70C>G|p.Arg24Gly|377/2202|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.70C>T|p.Arg24Trp|370/2196|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.70C>G|p.Arg24Gly|370/2196|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.70C>T|p.Arg24Trp|933/2758|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.70C>G|p.Arg24Gly|933/2758|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.70C>T|p.Arg24Trp|356/2179|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.70C>G|p.Arg24Gly|356/2179|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.22C>T|p.Arg8Trp|402/2223|22/1482|8/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.22C>G|p.Arg8Gly|402/2223|22/1482|8/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.70C>T|p.Arg24Trp|297/2057|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.70C>G|p.Arg24Gly|297/2057|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.22C>T|p.Arg8Trp|140/1766|22/1482|8/493||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.22C>G|p.Arg8Gly|140/1766|22/1482|8/493||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.70C>T|p.Arg24Trp|356/891|70/605|24/200||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.70C>G|p.Arg24Gly|356/891|70/605|24/200||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.139C>T|p.Arg47Trp|140/566|139/565|47/187||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.139C>G|p.Arg47Gly|140/566|139/565|47/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.70C>T|p.Arg24Trp|317/705|70/458|24/151||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.70C>G|p.Arg24Gly|317/705|70/458|24/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.70C>T|p.Arg24Trp|453/740|70/348|24/115||,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.70C>G|p.Arg24Gly|453/740|70/348|24/115||,A|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.70C>T|p.Arg24Trp|378/567|70/259|24/85||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.70C>G|p.Arg24Gly|378/567|70/259|24/85||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398741|protein_coding|4/6|c.70C>A|p.Arg24Arg|377/2202|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000398743|protein_coding|4/6|c.70C>A|p.Arg24Arg|370/2196|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000543184|protein_coding|3/5|c.70C>A|p.Arg24Arg|933/2758|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000405655|protein_coding|4/6|c.70C>A|p.Arg24Arg|356/2179|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000539862|protein_coding|2/4|c.22C>A|p.Arg8Arg|402/2223|22/1482|8/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000402697|protein_coding|4/6|c.70C>A|p.Arg24Arg|297/2057|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000424204|protein_coding|2/4|c.22C>A|p.Arg8Arg|140/1766|22/1482|8/493||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000439106|protein_coding|4/5|c.70C>A|p.Arg24Arg|356/891|70/605|24/200||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000438888|protein_coding|2/3|c.139C>A|p.Arg47Arg|140/566|139/565|47/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000420709|protein_coding|4/5|c.70C>A|p.Arg24Arg|317/705|70/458|24/151||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000406503|protein_coding|4/4|c.70C>A|p.Arg24Arg|453/740|70/348|24/115||,T|synonymous_variant|LOW|PRAME|ENSG00000185686|transcript|ENST00000403441|protein_coding|3/3|c.70C>A|p.Arg24Arg|378/567|70/259|24/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>T|||||18|,C|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>G|||||18|,T|3_prime_UTR_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>A|||||18|,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1005C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1005C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000492657|retained_intron|3/5|n.1005C>A||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.226C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.226C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000476336|processed_transcript|2/3|n.226C>A||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.399C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.399C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000485532|processed_transcript|2/3|n.399C>A||||||,A|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>T||||||,C|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>G||||||,T|non_coding_exon_variant|MODIFIER|PRAME|ENSG00000185686|transcript|ENST00000442481|nonsense_mediated_decay|4/4|n.*18C>A||||||
22	23401696	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.991G>A|p.Glu331Lys|1188/1291|991/1047|331/348||
22	23401750	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.937G>A|p.Val313Met|1134/1291|937/1047|313/348||
22	23401770	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.917G>A|p.Arg306His|1114/1291|917/1047|306/348||
22	23401822	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|7/7|c.865C>T|p.Arg289Cys|1062/1291|865/1047|289/348||
22	23404038	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|6/7|c.739G>A|p.Val247Met|936/1291|739/1047|247/348||
22	23406099	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.634C>T|p.Arg212Cys|831/1291|634/1047|212/348||
22	23406180	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.553G>C|p.Glu185Gln|750/1291|553/1047|185/348||
22	23406182	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.551C>T|p.Thr184Ile|748/1291|551/1047|184/348||
22	23406302	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|5/7|c.431A>G|p.Glu144Gly|628/1291|431/1047|144/348||
22	23437944	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.62G>A|p.Arg21His|728/3340|62/1068|21/355||,A|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>A|||||41|,A|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31633C>T||||||
22	23438192	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.310G>T|p.Ala104Ser|976/3340|310/1068|104/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652G>T|||||289|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31881C>A||||||
22	23438193	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.311C>T|p.Ala104Val|977/3340|311/1068|104/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||290|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-31882G>A||||||
22	23438340	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GNAZ|ENSG00000128266|transcript|ENST00000248996|protein_coding|2/3|c.458C>T|p.Ala153Val|1124/3340|458/1068|153/355||,T|downstream_gene_variant|MODIFIER|GNAZ|ENSG00000128266|transcript|ENST00000492538|processed_transcript||n.*652C>T|||||437|,T|intron_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/6|c.422-32029G>A||||||
22	23476261	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/7|c.373C>T|p.Arg125Trp|570/1291|373/1047|125/348||,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding|1/2|c.1C>T|p.Arg1Trp|1/323|1/222|1/73||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|2/3|c.145C>T|p.Arg49Trp|146/695|145/201|49/66||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSG00000272019|transcript|ENST00000606537|misc_RNA||n.-1C>T|||||1069|,A|upstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.-1G>A|||||2546|,A|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.*204C>T|||||1919|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.*419C>T|||||2124|
22	23476266	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|4/7|c.368T>C|p.Val123Ala|565/1291|368/1047|123/348||,G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding|2/3|c.140T>C|p.Val47Ala|141/695|140/201|47/66||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSG00000272019|transcript|ENST00000606537|misc_RNA||n.-1T>C|||||1074|,G|upstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.-1A>G|||||2541|,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1T>C|||||5|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding||c.*204T>C|||||1914|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.*419T>C|||||2119|
22	23481102	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|3/7|c.227T>C|p.Leu76Pro|424/1291|227/1047|76/348||,G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|2/3|c.107T>C|p.Leu36Pro|107/509|107/204|36/67||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|3/4|c.227T>C|p.Leu76Pro|319/519|227/327|76/108||,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000421213|protein_coding||c.-1T>C|||||4841|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2T>C|||||1|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91A>G|||||2205|
22	23482445	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.163C>T|p.His55Tyr|360/1291|163/1047|55/348||,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/3|c.43C>T|p.His15Tyr|43/509|43/204|15/67||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.163C>T|p.His55Tyr|255/519|163/327|55/108||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2C>T|||||1344|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>A|||||3548|
22	23482483	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding|2/7|c.125C>T|p.Thr42Met|322/1291|125/1047|42/348||,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000452757|protein_coding|1/3|c.5C>T|p.Thr2Met|5/509|5/204|2/67||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding|2/4|c.125C>T|p.Thr42Met|217/519|125/327|42/108||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000439064|protein_coding||c.-2C>T|||||1382|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|AC000029.1|ENSG00000221069|transcript|ENST00000408142|miRNA||n.*91G>A|||||3586|
22	23487656	.	T	A	.	.	ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/11|c.104T>A|p.Val35Glu|144/3828|104/1002|35/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|1/10|c.104T>A|p.Val35Glu|104/936|104/936|35/311||,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198A>T|||||3376|,A|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93A>T|||||448|,A|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2T>A|||||4644|WARNING_TRANSCRIPT_NO_START_CODON
22	23487701	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|1/11|c.149C>T|p.Pro50Leu|189/3828|149/1002|50/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|1/10|c.149C>T|p.Pro50Leu|149/936|149/936|50/311||,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198G>A|||||3421|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93G>A|||||493|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||4599|WARNING_TRANSCRIPT_NO_START_CODON
22	23488859	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|2/11|c.254C>T|p.Ala85Val|294/3828|254/1002|85/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|2/10|c.254C>T|p.Ala85Val|254/936|254/936|85/311||,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000216036|protein_coding||c.-198G>A|||||4579|,T|upstream_gene_variant|MODIFIER|RTDR1|ENSG00000100218|transcript|ENST00000406876|protein_coding||c.-93G>A|||||1651|,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||3441|WARNING_TRANSCRIPT_NO_START_CODON
22	23492257	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.275C>T|p.Thr92Met|315/3828|275/1002|92/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.275C>T|p.Thr92Met|275/936|275/936|92/311||,T|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>T|||||43|WARNING_TRANSCRIPT_NO_START_CODON
22	23492286	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.304C>G|p.His102Asp|344/3828|304/1002|102/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.304C>G|p.His102Asp|304/936|304/936|102/311||,G|upstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.-2C>G|||||14|WARNING_TRANSCRIPT_NO_START_CODON
22	23492320	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|3/11|c.338G>A|p.Arg113His|378/3828|338/1002|113/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|3/10|c.338G>A|p.Arg113His|338/936|338/936|113/311||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|1/4|c.20G>A|p.Arg7His|21/554|20/396|7/131||WARNING_TRANSCRIPT_NO_START_CODON
22	23495247	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|5/11|c.453C>G|p.Asp151Glu|493/3828|453/1002|151/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|4/10|c.387C>G|p.Asp129Glu|387/936|387/936|129/311||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|3/4|c.135C>G|p.Asp45Glu|136/554|135/396|45/131||WARNING_TRANSCRIPT_NO_START_CODON
22	23495285	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|5/11|c.491G>A|p.Arg164His|531/3828|491/1002|164/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|4/10|c.425G>A|p.Arg142His|425/936|425/936|142/311||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|3/4|c.173G>A|p.Arg58His|174/554|173/396|58/131||WARNING_TRANSCRIPT_NO_START_CODON
22	23498189	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|6/11|c.562A>G|p.Ile188Val|602/3828|562/1002|188/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|5/10|c.496A>G|p.Ile166Val|496/936|496/936|166/311||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|4/4|c.244A>G|p.Ile82Val|245/554|244/396|82/131||WARNING_TRANSCRIPT_NO_START_CODON
22	23498262	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding|4/4|c.317G>A|p.Arg106Gln|318/554|317/396|106/131||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|6/10|c.592+43G>A||||||,A|intron_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|5/9|c.526+43G>A||||||
22	23503155	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/11|c.907C>T|p.Arg303Trp|947/3828|907/1002|303/333||,T|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/10|c.841C>T|p.Arg281Trp|841/936|841/936|281/311||,T|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397C>T|||||4657|WARNING_TRANSCRIPT_NO_START_CODON
22	23503170	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|10/11|c.922A>G|p.Asn308Asp|962/3828|922/1002|308/333||,G|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|9/10|c.856A>G|p.Asn286Asp|856/936|856/936|286/311||,G|downstream_gene_variant|MODIFIER|RAB36|ENSG00000100228|transcript|ENST00000420895|protein_coding||c.*397A>G|||||4672|WARNING_TRANSCRIPT_NO_START_CODON
22	23503707	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000263116|protein_coding|11/11|c.958G>A|p.Glu320Lys|998/3828|958/1002|320/333||,A|missense_variant|MODERATE|RAB36|ENSG00000100228|transcript|ENST00000341989|protein_coding|10/10|c.892G>A|p.Glu298Lys|892/936|892/936|298/311||
22	23523218	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.71A>G|p.Glu24Gly|822/7082|71/3816|24/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.71A>G|p.Glu24Gly|667/2000|71/1404|24/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.71A>G|p.Glu24Gly|667/4708|71/3684|24/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.71A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.71A>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1T>C|||||753|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1T>C|||||859|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1199A>G||||||
22	23523550	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.403G>A|p.Gly135Arg|1154/7082|403/3816|135/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.403G>A|p.Gly135Arg|999/2000|403/1404|135/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.403G>A|p.Gly135Arg|999/4708|403/3684|135/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.403G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.403G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1085|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1191|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1531G>A||||||
22	23523602	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.455C>T|p.Ala152Val|1206/7082|455/3816|152/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.455C>T|p.Ala152Val|1051/2000|455/1404|152/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.455C>T|p.Ala152Val|1051/4708|455/3684|152/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.455C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.455C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1137|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||1243|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1583C>T||||||
22	23523617	.	A	T	.	.	ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.470A>T|p.Asn157Ile|1221/7082|470/3816|157/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.470A>T|p.Asn157Ile|1066/2000|470/1404|157/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.470A>T|p.Asn157Ile|1066/4708|470/3684|157/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.470A>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.470A>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1T>A|||||1152|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1T>A|||||1258|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1598A>T||||||
22	23523644	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.497G>A|p.Gly166Asp|1248/7082|497/3816|166/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.497G>A|p.Gly166Asp|1093/2000|497/1404|166/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.497G>A|p.Gly166Asp|1093/4708|497/3684|166/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.497G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.497G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1179|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1285|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1625G>A||||||
22	23523702	.	G	C	.	.	ANN=C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.555G>C|p.Glu185Asp|1306/7082|555/3816|185/1271||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.555G>C|p.Glu185Asp|1151/2000|555/1404|185/467||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.555G>C|p.Glu185Asp|1151/4708|555/3684|185/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.555G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.555G>C||||||,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>G|||||1237|,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>G|||||1343|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+1683G>C||||||
22	23524052	.	C	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.905C>G|p.Thr302Ser|1656/7082|905/3816|302/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.905C>G|p.Thr302Ser|1501/2000|905/1404|302/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.905C>G|p.Thr302Ser|1501/4708|905/3684|302/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.905C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.905C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.905C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.905C>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>C|||||1587|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>C|||||1693|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2033C>G||||||
22	23524069	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.922C>T|p.Arg308Cys|1673/7082|922/3816|308/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.922C>T|p.Arg308Cys|1518/2000|922/1404|308/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.922C>T|p.Arg308Cys|1518/4708|922/3684|308/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.922C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.922C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.922C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.922C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1604|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||1710|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2050C>T||||||
22	23524111	.	G	C	.	.	ANN=C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.964G>C|p.Glu322Gln|1715/7082|964/3816|322/1271||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.964G>C|p.Glu322Gln|1560/2000|964/1404|322/467||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.964G>C|p.Glu322Gln|1560/4708|964/3684|322/1227||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.964G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.964G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.964G>C||||||,C|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.964G>C||||||,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>G|||||1646|,C|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>G|||||1752|,C|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2092G>C||||||
22	23524265	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1118A>G|p.Asn373Ser|1869/7082|1118/3816|373/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1118A>G|p.Asn373Ser|1714/2000|1118/1404|373/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1118A>G|p.Asn373Ser|1714/4708|1118/3684|373/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1118A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.1118A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1118A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.1118A>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1T>C|||||1800|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1T>C|||||1906|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2246A>G||||||
22	23524289	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1142G>A|p.Ser381Asn|1893/7082|1142/3816|381/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1142G>A|p.Ser381Asn|1738/2000|1142/1404|381/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1142G>A|p.Ser381Asn|1738/4708|1142/3684|381/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1142G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000305877|protein_coding|1/23|c.1142G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1142G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Binding_to_ABL_SH2-domain|ENST00000359540|protein_coding|1/22|c.1142G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1824|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||1930|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2270G>A||||||
22	23524386	.	C	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1239C>G|p.Ile413Met|1990/7082|1239/3816|413/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1239C>G|p.Ile413Met|1835/2000|1239/1404|413/467||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1239C>G|p.Ile413Met|1835/4708|1239/3684|413/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1239C>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1239C>G||||||,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>C|||||1921|,G|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>C|||||2027|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2367C>G||||||
22	23524402	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1255G>A|p.Glu419Lys|2006/7082|1255/3816|419/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1255G>A|p.Glu419Lys|1851/2000|1255/1404|419/467||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1255G>A|p.Glu419Lys|1851/4708|1255/3684|419/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1255G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1255G>A||||||,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1C>T|||||1937|,A|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1C>T|||||2043|,A|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2383G>A||||||
22	23524414	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|1/23|c.1267C>T|p.His423Tyr|2018/7082|1267/3816|423/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000398512|protein_coding|1/2|c.1267C>T|p.His423Tyr|1863/2000|1267/1404|423/467||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|1/22|c.1267C>T|p.His423Tyr|1863/4708|1267/3684|423/1227||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000305877|protein_coding|1/23|c.1267C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|region_of_interest:Kinase|ENST00000359540|protein_coding|1/22|c.1267C>T||||||,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000593306|processed_pseudogene||n.-1G>A|||||1949|,T|upstream_gene_variant|MODIFIER|BCRP8|ENSG00000236794|transcript|ENST00000412037|processed_pseudogene||n.-1G>A|||||2055|,T|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|1/4|n.129+2395C>T||||||
22	23596073	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|2/23|c.1367T>C|p.Ile456Thr|2118/7082|1367/3816|456/1271||,C|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|2/22|c.1367T>C|p.Ile456Thr|1963/4708|1367/3684|456/1227||,C|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.-1T>C|||||74|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000463770|processed_transcript||n.*168T>C|||||53|,C|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487679|processed_transcript||n.*231T>C|||||53|,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript|3/5|n.385T>C||||||,C|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript|2/4|n.297T>C||||||
22	23603684	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|4/23|c.1709A>G|p.Gln570Arg|2460/7082|1709/3816|570/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|4/22|c.1709A>G|p.Gln570Arg|2305/4708|1709/3684|570/1227||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|3/8|c.269A>G|p.Gln90Arg|269/771|269/771|90/256||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|4/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|8/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|3/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|5/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|6/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000305877|protein_coding|7/23|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|4/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|8/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|3/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|5/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|6/22|c.1709A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:DH|ENST00000359540|protein_coding|7/22|c.1709A>G||||||,G|upstream_gene_variant|MODIFIER|FBXW4P1|ENSG00000230701|transcript|ENST00000426721|processed_pseudogene||n.-1A>G|||||1639|,G|downstream_gene_variant|MODIFIER|RN7SL263P|ENSG00000240160|transcript|ENST00000467969|misc_RNA||n.*288T>C|||||287|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000479188|processed_transcript||n.*658A>G|||||69|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000480973|processed_transcript||n.*535A>G|||||104|
22	23626230	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|9/23|c.2182G>A|p.Val728Ile|2933/7082|2182/3816|728/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|9/22|c.2182G>A|p.Val728Ile|2778/4708|2182/3684|728/1227||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|7/8|c.634G>A|p.Val212Ile|634/771|634/771|212/256||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2182G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2182G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|1/5|n.835G>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|1/3|n.256G>A||||||
22	23627225	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2243C>T|p.Thr748Met|2994/7082|2243/3816|748/1271||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2243C>T|p.Thr748Met|2839/4708|2243/3684|748/1227||,T|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.695C>T|p.Thr232Met|695/771|695/771|232/256||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2243C>T||||||,T|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2243C>T||||||,T|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>T|||||4577|,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.896C>T||||||,T|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.317C>T||||||
22	23627238	.	C	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2256C>A|p.Asp752Glu|3007/7082|2256/3816|752/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2256C>A|p.Asp752Glu|2852/4708|2256/3684|752/1227||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.708C>A|p.Asp236Glu|708/771|708/771|236/256||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2256C>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2256C>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1C>A|||||4564|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.909C>A||||||,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.330C>A||||||
22	23627249	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2267A>G|p.Tyr756Cys|3018/7082|2267/3816|756/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2267A>G|p.Tyr756Cys|2863/4708|2267/3684|756/1227||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding|8/8|c.719A>G|p.Tyr240Cys|719/771|719/771|240/256||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2267A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2267A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1A>G|||||4553|,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.920A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.341A>G||||||
22	23627369	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|10/23|c.2387A>G|p.Asn796Ser|3138/7082|2387/3816|796/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|10/22|c.2387A>G|p.Asn796Ser|2983/4708|2387/3684|796/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|9/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|11/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|12/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000305877|protein_coding|10/23|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|9/22|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|11/22|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|12/22|c.2387A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:PH|ENST00000359540|protein_coding|10/22|c.2387A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript||n.-1A>G|||||4433|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000427791|protein_coding||c.*771A>G|||||68|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|2/5|n.1040A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron|2/3|n.461A>G||||||
22	23632547	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|14/23|c.2729A>G|p.Tyr910Cys|3480/7082|2729/3816|910/1271||,G|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|14/22|c.2729A>G|p.Tyr910Cys|3325/4708|2729/3684|910/1227||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2729A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2729A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2729A>G||||||,G|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2729A>G||||||,G|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1A>G|||||4681|,G|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000466076|retained_intron||n.*495A>G|||||3187|,G|intron_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|1/4|n.7+739A>G||||||,G|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron|5/5|n.2099A>G||||||
22	23634790	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000305877|protein_coding|15/23|c.2845G>A|p.Val949Ile|3596/7082|2845/3816|949/1271||,A|missense_variant|MODERATE|BCR|ENSG00000186716|transcript|ENST00000359540|protein_coding|15/22|c.2845G>A|p.Val949Ile|3441/4708|2845/3684|949/1227||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|13/23|c.2845G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|14/23|c.2845G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|15/23|c.2845G>A||||||,A|sequence_feature|LOW|BCR|ENSG00000186716|domain:C2|ENST00000305877|protein_coding|16/23|c.2845G>A||||||,A|upstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000471452|processed_transcript||n.-1G>A|||||2438|,A|downstream_gene_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000487968|retained_intron||n.*2870G>A|||||1472|,A|non_coding_exon_variant|MODIFIER|BCR|ENSG00000186716|transcript|ENST00000419722|processed_transcript|2/5|n.70G>A||||||
22	23915529	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.566G>A|p.Arg189His|684/901|566/642|189/213||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.566G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.566G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.566G>A||||||,T|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*195G>A|||||195|,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569C>T|||||220|,T|downstream_gene_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding||c.*654G>A|||||27|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|3/3|n.391-123C>T||||||
22	23915652	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|3/3|c.443C>T|p.Thr148Ile|561/901|443/642|148/213||,A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|3/3|c.446C>T|p.Thr149Ile|558/654|446/542|149/179||WARNING_TRANSCRIPT_INCOMPLETE,A|splice_region_variant&non_coding_exon_variant|LOW|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense|4/4|n.391G>A||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|region_of_interest:C_region__By_similarity_to_lambda_light-chain_|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|domain:Ig-like_C1-type|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|disulfide_bond|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|beta_strand|ENST00000330377|protein_coding|3/3|c.443C>T||||||,A|3_prime_UTR_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|2/2|c.*72C>T|||||72|,A|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569G>A|||||343|
22	23917253	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|2/3|c.223G>A|p.Gly75Ser|341/901|223/642|75/213||,T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|2/3|c.226G>A|p.Gly76Ser|338/654|226/542|76/179||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IGLL1|ENSG00000128322|helix|ENST00000330377|protein_coding|2/3|c.223G>A||||||,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000454863|antisense||n.*569C>T|||||1944|,T|downstream_gene_variant|MODIFIER|AP000345.2|ENSG00000224277|transcript|ENST00000458318|antisense||n.*433C>T|||||1559|,T|intron_variant|MODIFIER|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/1|c.207-1481G>A||||||
22	23922281	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/3|c.97G>A|p.Val33Met|215/901|97/642|33/213||,T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/2|c.97G>A|p.Val33Met|146/716|97/255|33/84||,T|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/3|c.97G>A|p.Val33Met|209/654|97/542|33/179||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000330377|protein_coding|1/3|c.97G>A||||||,T|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000249053|protein_coding|1/2|c.97G>A||||||,T|downstream_gene_variant|MODIFIER|KB-208E9.1|ENSG00000272733|transcript|ENST00000608615|lincRNA||n.*1081G>A|||||786|
22	23922311	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000330377|protein_coding|1/3|c.67C>T|p.Arg23Cys|185/901|67/642|23/213||,A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000249053|protein_coding|1/2|c.67C>T|p.Arg23Cys|116/716|67/255|23/84||,A|missense_variant|MODERATE|IGLL1|ENSG00000128322|transcript|ENST00000438703|protein_coding|1/3|c.67C>T|p.Arg23Cys|179/654|67/542|23/179||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000330377|protein_coding|1/3|c.67C>T||||||,A|sequence_feature|LOW|IGLL1|ENSG00000128322|signal_peptide|ENST00000249053|protein_coding|1/2|c.67C>T||||||,A|downstream_gene_variant|MODIFIER|KB-208E9.1|ENSG00000272733|transcript|ENST00000608615|lincRNA||n.*1081C>T|||||756|
22	23955509	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|11/12|c.652C>G|p.Leu218Val|950/1300|652/690|218/229||
22	23956340	.	T	A	.	.	ANN=A|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|9/12|c.603A>T|p.Glu201Asp|901/1300|603/690|201/229||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.603A>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.603A>T||||||
22	23959054	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|8/12|c.527C>T|p.Pro176Leu|825/1300|527/690|176/229||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.527C>T||||||,A|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.527C>T||||||
22	23962789	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|5/12|c.398G>A|p.Arg133His|696/1300|398/690|133/229||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|7/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|9/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|5/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|8/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|4/12|c.398G>A||||||,T|sequence_feature|LOW|C22orf43|ENSG00000189269|compositionally_biased_region:Asp-rich|ENST00000317749|protein_coding|6/12|c.398G>A||||||
22	23974182	.	T	C	.	.	ANN=C|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/12|c.29A>G|p.Asn10Ser|327/1300|29/690|10/229||,C|intron_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|4/5|n.585-22A>G||||||
22	23974200	.	A	G	.	.	ANN=G|missense_variant|MODERATE|C22orf43|ENSG00000189269|transcript|ENST00000317749|protein_coding|1/12|c.11T>C|p.Ile4Thr|309/1300|11/690|4/229||,G|intron_variant|MODIFIER|KB-1572G7.3|ENSG00000211683|transcript|ENST00000390329|processed_transcript|4/5|n.585-40T>C||||||
22	24034288	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.71A>G|p.Gln24Arg|796/2333|71/1608|24/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.71A>G|p.Gln24Arg|1241/2885|71/1422|24/473||,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||1808|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||1697|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||1610|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||1804|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4121|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4282|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||4383|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1745T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1745T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8234T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3072T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1745T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22110T>C||||||,G|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-234A>G||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1051T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1085T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.71A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.796A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.796A>G||||||
22	24034299	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.82G>A|p.Glu28Lys|807/2333|82/1608|28/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.82G>A|p.Glu28Lys|1252/2885|82/1422|28/473||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||1819|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||1708|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||1621|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||1815|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4132|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4293|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||4372|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1756C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1756C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8245C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3061C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1756C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22099C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-223G>A||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1040C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1074C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.82G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.807G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.807G>A||||||
22	24034304	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.87G>C|p.Glu29Asp|812/2333|87/1608|29/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.87G>C|p.Glu29Asp|1257/2885|87/1422|29/473||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||1824|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||1713|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||1626|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||1820|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>G|||||4137|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>G|||||4298|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||4367|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1761C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1761C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8250C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3056C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1761C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22094C>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-218G>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1035C>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1069C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.87G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.812G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.812G>C||||||
22	24034326	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.109C>T|p.Arg37Cys|834/2333|109/1608|37/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.109C>T|p.Arg37Cys|1279/2885|109/1422|37/473||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||1846|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||1735|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||1648|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||1842|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4159|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4320|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||4345|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1783G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1783G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8272G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3034G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1783G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22072G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-196C>T||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1013G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1047G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.109C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.834C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.834C>T||||||
22	24034330	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.113C>T|p.Thr38Met|838/2333|113/1608|38/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.113C>T|p.Thr38Met|1283/2885|113/1422|38/473||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||1850|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||1739|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||1652|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||1846|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4163|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4324|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||4341|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1787G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1787G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8276G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3030G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1787G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22068G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-192C>T||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.1009G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1043G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.838C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.838C>T||||||
22	24034353	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|1/12|c.136T>C|p.Tyr46His|861/2333|136/1608|46/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|1/11|c.136T>C|p.Tyr46His|1306/2885|136/1422|46/473||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||1873|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||1762|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1675|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||1869|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4186|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4347|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4318|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2289-1810A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2263-1810A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.928-8299A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+3007A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2495-1810A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+22045A>G||||||,C|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|2/11|c.-229-169T>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.986A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.1020A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|3/14|n.136T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.861T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.861T>C||||||
22	24034545	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.203A>G|p.Asn68Ser|928/2333|203/1608|68/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.203A>G|p.Asn68Ser|1373/2885|203/1422|68/473||,G|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-206A>G|||||346|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||2065|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||1954|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||1867|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||2061|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4378|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4539|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||4126|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1761T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1761T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8368T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2815T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1761T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21853T>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.794T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.828T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.203A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1053A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1053A>G||||||
22	24034574	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.232T>C|p.Tyr78His|957/2333|232/1608|78/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.232T>C|p.Tyr78His|1402/2885|232/1422|78/473||,C|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-177T>C|||||317|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||2094|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||1983|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1896|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||2090|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4407|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4568|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4097|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1732A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1732A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8339A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2786A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1732A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21824A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.765A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.799A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.232T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1082T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1082T>C||||||
22	24034602	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.260G>A|p.Arg87Gln|985/2333|260/1608|87/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.260G>A|p.Arg87Gln|1430/2885|260/1422|87/473||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-149G>A|||||289|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||2122|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||2011|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||1924|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||2118|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4435|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4596|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||4069|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1704C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1704C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8311C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2758C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1704C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21796C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.737C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.771C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.260G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1110G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1110G>A||||||
22	24034628	.	T	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.286T>A|p.Ser96Thr|1011/2333|286/1608|96/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.286T>A|p.Ser96Thr|1456/2885|286/1422|96/473||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-123T>A|||||263|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>T|||||2148|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>T|||||2037|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>T|||||1950|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>T|||||2144|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>T|||||4461|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>T|||||4622|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>A|||||4043|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1678A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1678A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8285A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2732A>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1678A>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21770A>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.711A>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.745A>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.286T>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1136T>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1136T>A||||||
22	24034671	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.329T>C|p.Leu110Pro|1054/2333|329/1608|110/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.329T>C|p.Leu110Pro|1499/2885|329/1422|110/473||,C|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-80T>C|||||220|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>G|||||2191|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>G|||||2080|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>G|||||1993|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>G|||||2187|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1A>G|||||4504|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1A>G|||||4665|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>C|||||4000|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1635A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1635A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8242A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2689A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1635A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21727A>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.668A>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.702A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.329T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1179T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1179T>C||||||
22	24034706	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|2/12|c.364A>G|p.Lys122Glu|1089/2333|364/1608|122/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|2/11|c.364A>G|p.Lys122Glu|1534/2885|364/1422|122/473||,G|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.364A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.364A>G||||||,G|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|3/12|c.-45A>G|||||185|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>C|||||2226|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>C|||||2115|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>C|||||2028|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>C|||||2222|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1T>C|||||4539|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1T>C|||||4700|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>G|||||3965|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1600T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1600T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8207T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2654T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1600T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21692T>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.633T>C||||||,G|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.667T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|4/14|n.364A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|1/10|n.1214A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|1/11|n.1214A>G||||||
22	24034868	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.386G>A|p.Arg129His|1111/2333|386/1608|129/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.386G>A|p.Arg129His|1556/2885|386/1422|129/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.386G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.386G>A||||||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.-23G>A|||||23|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||2388|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||2277|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||2190|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||2384|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>T|||||4701|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>T|||||4862|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||3803|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1438C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1438C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8045C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2492C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1438C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21530C>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.471C>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.505C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.386G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1236G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1236G>A||||||
22	24034881	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.399C>A|p.His133Gln|1124/2333|399/1608|133/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.399C>A|p.His133Gln|1569/2885|399/1422|133/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.399C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.399C>A||||||,A|5_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.-10C>A|||||10|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2401|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2290|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2203|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2397|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>T|||||4714|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>T|||||4875|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3790|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1425G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1425G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8032G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2479G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1425G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21517G>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.458G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.492G>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.399C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1249C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1249C>A||||||
22	24034912	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.430C>T|p.Pro144Ser|1155/2333|430/1608|144/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.22C>T|p.Pro8Ser|1135/2420|22/1014|8/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.430C>T|p.Pro144Ser|1600/2885|430/1422|144/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.430C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.430C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||2432|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||2321|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||2234|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||2428|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4745|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>A|||||4906|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||3759|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1394G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1394G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+8001G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2448G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1394G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21486G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.427G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.461G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.430C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1280C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1280C>T||||||
22	24034939	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.457G>C|p.Ala153Pro|1182/2333|457/1608|153/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.49G>C|p.Ala17Pro|1162/2420|49/1014|17/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.457G>C|p.Ala153Pro|1627/2885|457/1422|153/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.457G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.457G>C||||||,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||2459|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||2348|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||2261|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||2455|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1C>G|||||4772|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1C>G|||||4933|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||3732|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1367C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1367C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7974C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2421C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1367C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21459C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.400C>G||||||,C|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.434C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.457G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1307G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1307G>C||||||
22	24034948	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.466C>A|p.Pro156Thr|1191/2333|466/1608|156/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.58C>A|p.Pro20Thr|1171/2420|58/1014|20/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.466C>A|p.Pro156Thr|1636/2885|466/1422|156/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.466C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.466C>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2468|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2357|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2270|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2464|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>T|||||4781|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>T|||||4942|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3723|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1358G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1358G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7965G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2412G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1358G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21450G>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.391G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.425G>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.466C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1316C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1316C>A||||||
22	24034949	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.467C>A|p.Pro156Gln|1192/2333|467/1608|156/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.59C>A|p.Pro20Gln|1172/2420|59/1014|20/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.467C>A|p.Pro156Gln|1637/2885|467/1422|156/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.467C>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.467C>A||||||,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>T|||||2469|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>T|||||2358|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>T|||||2271|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>T|||||2465|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>T|||||4782|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000437862|processed_transcript||n.-1G>T|||||4943|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>A|||||3722|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1357G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1357G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7964G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2411G>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1357G>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21449G>T||||||,A|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.390G>T||||||,A|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.424G>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.467C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1317C>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1317C>A||||||
22	24035129	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|3/12|c.647C>T|p.Thr216Met|1372/2333|647/1608|216/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|4/12|c.239C>T|p.Thr80Met|1352/2420|239/1014|80/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|3/11|c.647C>T|p.Thr216Met|1817/2885|647/1422|216/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|2/11|c.647C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|compositionally_biased_region:Pro-rich|ENST00000290691|protein_coding|3/11|c.647C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||2649|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||2538|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||2451|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||2645|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000451919|processed_transcript||n.-1G>A|||||4962|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||3542|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+1177G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+1177G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+7784G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+2231G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+1177G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+21269G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript|1/5|n.210G>A||||||,T|non_coding_exon_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript|1/3|n.244G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|5/14|n.647C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|2/10|n.1497C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|2/11|n.1497C>T||||||
22	24035970	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.721C>T|p.His241Tyr|1446/2333|721/1608|241/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.313C>T|p.His105Tyr|1426/2420|313/1014|105/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.721C>T|p.His241Tyr|1891/2885|721/1422|241/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.721C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.721C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||632|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||598|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||3490|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||3379|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||3292|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||3486|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||2701|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||4287|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+336G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+336G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6943G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1390G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+336G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20428G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.721C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1571C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1571C>T||||||
22	24036000	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.751G>C|p.Gly251Arg|1476/2333|751/1608|251/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.343G>C|p.Gly115Arg|1456/2420|343/1014|115/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.751G>C|p.Gly251Arg|1921/2885|751/1422|251/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.751G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.751G>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>G|||||662|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>G|||||628|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||3520|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||3409|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||3322|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||3516|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||2671|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>C|||||4257|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+306C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+306C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6913C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1360C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+306C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20398C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.751G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1601G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1601G>C||||||
22	24036013	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.764G>A|p.Gly255Glu|1489/2333|764/1608|255/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.356G>A|p.Gly119Glu|1469/2420|356/1014|119/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.764G>A|p.Gly255Glu|1934/2885|764/1422|255/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.764G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.764G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||675|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||641|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3533|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3422|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3335|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3529|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2658|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4244|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+293C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+293C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6900C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1347C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+293C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20385C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.764G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1614G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1614G>A||||||
22	24036040	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.791G>A|p.Arg264His|1516/2333|791/1608|264/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.383G>A|p.Arg128His|1496/2420|383/1014|128/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.791G>A|p.Arg264His|1961/2885|791/1422|264/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.791G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.791G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||702|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||668|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3560|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3449|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3362|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3556|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2631|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4217|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+266C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+266C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6873C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1320C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+266C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20358C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.791G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1641G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1641G>A||||||
22	24036138	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|4/12|c.889G>A|p.Glu297Lys|1614/2333|889/1608|297/535||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|5/12|c.481G>A|p.Glu161Lys|1594/2420|481/1014|161/337||,A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|4/11|c.889G>A|p.Glu297Lys|2059/2885|889/1422|297/473||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.889G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.889G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||800|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||766|,A|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>T|||||3658|,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>T|||||3547|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>T|||||3460|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>T|||||3654|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>A|||||2533|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||4119|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/11|n.2288+168C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/11|n.2262+168C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+6775C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+1222C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/11|n.2494+168C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+20260C>T||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|6/14|n.889G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|3/10|n.1739G>A||||||,A|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|3/11|n.1739G>A||||||
22	24037150	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1030G>C|p.Glu344Gln|1755/2333|1030/1608|344/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.622G>C|p.Glu208Gln|1735/2420|622/1014|208/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1030G>C|p.Glu344Gln|2200/2885|1030/1422|344/473||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1030G>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1030G>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>G|||||1812|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>G|||||1778|,C|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1C>G|||||4670|,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1C>G|||||4559|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1C>G|||||4472|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1C>G|||||4666|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2G>C|||||1521|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>C|||||3107|,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5763C>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+210C>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19248C>G||||||,C|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1444C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1418C>G||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1650C>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1030G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1880G>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1880G>C||||||
22	24037178	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1058C>T|p.Thr353Ile|1783/2333|1058/1608|353/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.650C>T|p.Thr217Ile|1763/2420|650/1014|217/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1058C>T|p.Thr353Ile|2228/2885|1058/1422|353/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1058C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1058C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||1840|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||1806|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1G>A|||||4698|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1G>A|||||4587|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1G>A|||||4500|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1G>A|||||4694|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2C>T|||||1493|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||3079|,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5735G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+182G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19220G>A||||||,T|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1416G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1390G>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1622G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1058C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1908C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1908C>T||||||
22	24037193	.	A	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1073A>T|p.Asp358Val|1798/2333|1073/1608|358/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.665A>T|p.Asp222Val|1778/2420|665/1014|222/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1073A>T|p.Asp358Val|2243/2885|1073/1422|358/473||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1073A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1073A>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1T>A|||||1855|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1T>A|||||1821|,T|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1T>A|||||4713|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1T>A|||||4602|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1T>A|||||4515|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1T>A|||||4709|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2A>T|||||1478|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1A>T|||||3064|,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5720T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+167T>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19205T>A||||||,T|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1401T>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1375T>A||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1607T>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1073A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1923A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1923A>T||||||
22	24037199	.	T	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/12|c.1079T>G|p.Leu360Arg|1804/2333|1079/1608|360/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/12|c.671T>G|p.Leu224Arg|1784/2420|671/1014|224/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/11|c.1079T>G|p.Leu360Arg|2249/2885|1079/1422|360/473||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1079T>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1079T>G||||||,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>C|||||1861|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>C|||||1827|,G|upstream_gene_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000423913|processed_transcript||n.-1A>C|||||4719|,G|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000608454|processed_transcript||n.-1A>C|||||4608|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000438858|processed_transcript||n.-1A>C|||||4521|,G|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000458554|processed_transcript||n.-1A>C|||||4715|,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding||c.-2T>G|||||1472|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>G|||||3058|,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+5714A>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|7/9|n.1320+161A>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+19199A>C||||||,G|non_coding_exon_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|7/12|n.1395A>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|7/12|n.1369A>C||||||,G|non_coding_exon_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|8/12|n.1601A>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|8/14|n.1079T>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/10|n.1929T>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/11|n.1929T>G||||||
22	24038780	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.109C>T|p.Pro37Ser|110/759|109/465|37/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-21C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-21C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||3442|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||3408|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||1477|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||4196|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1076G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-21C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1076G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4133G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1076G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1076G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17618G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-21C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-21C>T||||||
22	24038781	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.110C>T|p.Pro37Leu|111/759|110/465|37/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-20C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-20C>T||||||,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||3443|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||3409|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||1476|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||4195|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1077G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-20C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1077G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4132G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1077G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1077G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17617G>A||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-20C>T||||||,T|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-20C>T||||||
22	24038786	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.115G>A|p.Ala39Thr|116/759|115/465|39/154||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1087-15G>A||||||,A|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1087-15G>A||||||,A|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1C>T|||||3448|,A|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1C>T|||||3414|,A|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1G>A|||||1471|,A|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601C>T|||||4190|,A|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1082C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|6/11|c.1087-15G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1082C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4127C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1082C>T||||||,A|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1082C>T||||||,A|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17612C>T||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|9/13|n.1254-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|7/11|c.679-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|6/10|c.1087-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|5/9|n.1937-15G>A||||||,A|intron_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|5/10|n.1937-15G>A||||||
22	24038847	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|7/12|c.1133T>C|p.Val378Ala|1858/2333|1133/1608|378/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|8/12|c.725T>C|p.Val242Ala|1838/2420|725/1014|242/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|7/11|c.1133T>C|p.Val378Ala|2303/2885|1133/1422|378/473||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|1/5|c.176T>C|p.Val59Ala|177/759|176/465|59/154||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1133T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1133T>C||||||,C|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1A>G|||||3509|,C|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1A>G|||||3475|,C|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1T>C|||||1410|,C|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601A>G|||||4129|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1143A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1143A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+4066A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1143A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1143A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17551A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|10/14|n.1300T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|6/10|n.1983T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|6/11|n.1983T>C||||||
22	24039380	.	A	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|8/12|c.1184A>T|p.Asp395Val|1909/2333|1184/1608|395/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|9/12|c.776A>T|p.Asp259Val|1889/2420|776/1014|259/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|8/11|c.1184A>T|p.Asp395Val|2354/2885|1184/1422|395/473||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|2/5|c.227A>T|p.Asp76Val|228/759|227/465|76/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1184A>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1184A>T||||||,T|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*43A>T|||||525|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1T>A|||||4042|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1T>A|||||4008|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1A>T|||||877|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>A|||||3596|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1676T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1676T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+3533T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1676T>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1676T>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+17018T>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*43A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|7/10|n.2034A>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|7/11|n.2034A>T||||||
22	24039410	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|8/12|c.1214C>T|p.Ser405Leu|1939/2333|1214/1608|405/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|9/12|c.806C>T|p.Ser269Leu|1919/2420|806/1014|269/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|8/11|c.1214C>T|p.Ser405Leu|2384/2885|1214/1422|405/473||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|2/5|c.257C>T|p.Ser86Leu|258/759|257/465|86/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1214C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1214C>T||||||,T|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*73C>T|||||555|,T|upstream_gene_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000455485|processed_transcript||n.-1G>A|||||4072|,T|upstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000417194|processed_transcript||n.-1G>A|||||4038|,T|upstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.-1C>T|||||847|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||3566|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-1706G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-1706G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+3503G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-1706G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1096-1706G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+16988G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|11/14|n.*73C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|7/10|n.2064C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|7/11|n.2064C>T||||||
22	24040405	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/12|c.1267C>G|p.Arg423Gly|1992/2333|1267/1608|423/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/12|c.859C>G|p.Arg287Gly|1972/2420|859/1014|287/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/11|c.1267C>G|p.Arg423Gly|2437/2885|1267/1422|423/473||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/5|c.310C>G|p.Arg104Gly|311/759|310/465|104/154||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1267C>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1267C>G||||||,G|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*126C>G|||||1550|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>C|||||2571|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2701G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2701G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2508G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2701G>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2508G>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15993G>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*126C>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/10|n.2117C>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/11|n.2117C>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/2|n.149C>G||||||
22	24040475	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/12|c.1337T>C|p.Phe446Ser|2062/2333|1337/1608|446/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/12|c.929T>C|p.Phe310Ser|2042/2420|929/1014|310/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/11|c.1337T>C|p.Phe446Ser|2507/2885|1337/1422|446/473||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/5|c.380T>C|p.Phe127Ser|381/759|380/465|127/154||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1337T>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1337T>C||||||,C|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*196T>C|||||1620|,C|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601A>G|||||2501|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2771A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2771A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2438A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2771A>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2438A>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15923A>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*196T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/10|n.2187T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/11|n.2187T>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/2|n.219T>C||||||
22	24040507	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|10/12|c.1369A>G|p.Ser457Gly|2094/2333|1369/1608|457/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|11/12|c.961A>G|p.Ser321Gly|2074/2420|961/1014|321/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|10/11|c.1369A>G|p.Ser457Gly|2539/2885|1369/1422|457/473||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|4/5|c.412A>G|p.Ser138Gly|413/759|412/465|138/154||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1369A>G||||||,G|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1369A>G||||||,G|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*228A>G|||||1652|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>C|||||2469|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-2803T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-2803T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+2406T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-2803T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+2406T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15891T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|13/14|n.*228A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|9/10|n.2219A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|9/11|n.2219A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript|1/2|n.251A>G||||||
22	24041036	.	A	C	.	.	ANN=C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|12/12|c.1479A>C|p.Gln493His|2204/2333|1479/1608|493/535||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|12/12|c.980A>C|p.Lys327Thr|2093/2420|980/1014|327/337||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|11/11|c.1388A>C|p.Lys463Thr|2558/2885|1388/1422|463/473||,C|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|5/5|c.431A>C|p.Lys144Thr|432/759|431/465|144/154||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1388A>C||||||,C|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1388A>C||||||,C|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*536A>C|||||2181|,C|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394A>C|||||305|,C|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>G|||||1940|,C|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3332T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3332T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1877T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3332T>G||||||,C|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1877T>G||||||,C|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15362T>G||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*536A>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2527A>C||||||,C|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|11/11|n.2372A>C||||||
22	24041056	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|12/12|c.1499C>T|p.Ala500Val|2224/2333|1499/1608|500/535||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|12/12|c.1000C>T|p.Pro334Ser|2113/2420|1000/1014|334/337||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|11/11|c.1408C>T|p.Pro470Ser|2578/2885|1408/1422|470/473||,T|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|5/5|c.451C>T|p.Pro151Ser|452/759|451/465|151/154||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|8/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|5/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|11/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|9/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|10/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|3/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|7/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|4/11|c.1408C>T||||||,T|sequence_feature|LOW|RGL4|ENSG00000159496|domain:Ras-GEF|ENST00000290691|protein_coding|6/11|c.1408C>T||||||,T|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*556C>T|||||2201|,T|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394C>T|||||325|,T|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601G>A|||||1920|,T|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3352G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3352G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1857G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3352G>A||||||,T|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1857G>A||||||,T|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15342G>A||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*556C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2547C>T||||||,T|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|11/11|n.2392C>T||||||
22	24041062	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000423392|protein_coding|12/12|c.1505A>G|p.Lys502Arg|2230/2333|1505/1608|502/535||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000401461|protein_coding|12/12|c.1006A>G|p.Asn336Asp|2119/2420|1006/1014|336/337||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000290691|protein_coding|11/11|c.1414A>G|p.Asn472Asp|2584/2885|1414/1422|472/473||,G|missense_variant|MODERATE|RGL4|ENSG00000159496|transcript|ENST00000452208|protein_coding|5/5|c.457A>G|p.Asn153Asp|458/759|457/465|153/154||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*562A>G|||||2207|,G|downstream_gene_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460167|processed_transcript||n.*394A>G|||||331|,G|downstream_gene_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000432595|processed_transcript||n.*601T>C|||||1914|,G|intron_variant|MODIFIER|KB-1572G7.2|ENSG00000273000|transcript|ENST00000421064|processed_transcript|6/11|n.890-3358T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000451837|processed_transcript|6/11|n.864-3358T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000452737|processed_transcript|7/9|n.927+1851T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000422506|processed_transcript|6/9|n.976-3358T>C||||||,G|intron_variant|MODIFIER|GUSBP11|ENSG00000228315|transcript|ENST00000445682|processed_transcript|7/11|n.1095+1851T>C||||||,G|intron_variant|MODIFIER|AP000347.2|ENSG00000272578|transcript|ENST00000435868|transcribed_unprocessed_pseudogene|4/4|n.711+15336T>C||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000441897|nonsense_mediated_decay|14/14|n.*562A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000460003|retained_intron|10/10|n.2553A>G||||||,G|non_coding_exon_variant|MODIFIER|RGL4|ENSG00000159496|transcript|ENST00000467354|retained_intron|11/11|n.2398A>G||||||
22	24086055	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1273G>A|p.Gly425Ser|1734/4020|1273/1341|425/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_11|ENST00000341976|protein_coding|2/2|c.1273G>A||||||,T|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1G>A|||||4579|
22	24086195	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.1133C>T|p.Ala378Val|1594/4020|1133/1341|378/446||,A|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_9|ENST00000341976|protein_coding|2/2|c.1133C>T||||||,A|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1C>T|||||4719|
22	24086348	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.980G>A|p.Arg327His|1441/4020|980/1341|327/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_7|ENST00000341976|protein_coding|2/2|c.980G>A||||||,T|upstream_gene_variant|MODIFIER|LL22NC03-N27C7.1|ENSG00000270041|transcript|ENST00000602816|lincRNA||n.-1G>A|||||4872|
22	24086640	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.688G>A|p.Gly230Arg|1149/4020|688/1341|230/446||,T|sequence_feature|LOW|ZNF70|ENSG00000187792|zinc_finger_region:C2H2-type_4|ENST00000341976|protein_coding|2/2|c.688G>A||||||
22	24086754	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.574G>A|p.Gly192Arg|1035/4020|574/1341|192/446||
22	24086939	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.389C>A|p.Pro130His|850/4020|389/1341|130/446||
22	24087030	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.298G>A|p.Asp100Asn|759/4020|298/1341|100/446||
22	24087185	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.143A>G|p.Tyr48Cys|604/4020|143/1341|48/446||
22	24087231	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding|2/2|c.97G>A|p.Asp33Asn|558/4020|97/1341|33/446||
22	24095103	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.332C>T|p.Ala111Val|437/610|332/372|111/123||,A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.284C>T|p.Ala95Val|330/503|284/324|95/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.332C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.332C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||1824|
22	24095127	.	C	G	.	.	ANN=G|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.308G>C|p.Ser103Thr|413/610|308/372|103/123||,G|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.260G>C|p.Ser87Thr|306/503|260/324|87/107||,G|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.308G>C||||||,G|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.308G>C||||||,G|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>C|||||1848|
22	24095199	.	C	T	.	.	ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.236G>A|p.Arg79Gln|341/610|236/372|79/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.188G>A|p.Arg63Gln|234/503|188/324|63/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.236G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.236G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||1920|
22	24095221	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.214C>T|p.Arg72Cys|319/610|214/372|72/123||,A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.166C>T|p.Arg56Cys|212/503|166/324|56/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.214C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.214C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||1942|
22	24095278	.	C	T	.	.	ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.157G>A|p.Gly53Ser|262/610|157/372|53/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.109G>A|p.Gly37Ser|155/503|109/324|37/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.157G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.157G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||1999|
22	24095296	.	C	T	.	.	ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.139G>A|p.Val47Ile|244/610|139/372|47/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.91G>A|p.Val31Ile|137/503|91/324|31/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.139G>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.139G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||2017|
22	24095313	.	G	T	.	.	ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.122C>A|p.Thr41Lys|227/610|122/372|41/123||,T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.74C>A|p.Thr25Lys|120/503|74/324|25/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.122C>A||||||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|disulfide_bond|ENST00000248948|protein_coding|2/2|c.122C>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>A|||||2034|
22	24095337	.	C	T	.	.	ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.98G>A|p.Gly33Asp|203/610|98/372|33/123||,T|missense_variant&splice_region_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|2/2|c.50G>A|p.Gly17Asp|96/503|50/324|17/107||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.98G>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462G>A|||||2058|
22	24095350	.	G	T	.	.	ANN=T|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|2/2|c.85C>A|p.Leu29Met|190/610|85/372|29/123||,T|sequence_feature|LOW|VPREB3|ENSG00000128218|domain:Ig-like|ENST00000248948|protein_coding|2/2|c.85C>A||||||,T|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>A|||||2071|,T|intron_variant|MODIFIER|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/1|c.50-13C>A||||||
22	24096541	.	G	A	.	.	ANN=A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000248948|protein_coding|1/2|c.10C>T|p.Arg4Trp|115/610|10/372|4/123||,A|missense_variant|MODERATE|VPREB3|ENSG00000128218|transcript|ENST00000398465|protein_coding|1/2|c.10C>T|p.Arg4Trp|56/503|10/324|4/107||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|2/2|c.10C>T||||||,A|sequence_feature|LOW|VPREB3|ENSG00000128218|signal_peptide|ENST00000248948|protein_coding|1/2|c.10C>T||||||,A|upstream_gene_variant|MODIFIER|ZNF70|ENSG00000187792|transcript|ENST00000341976|protein_coding||c.-462C>T|||||3262|
22	24106989	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding|5/6|c.340G>A|p.Ala114Thr|440/681|340/474|114/157||,A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding|5/6|c.335G>A|p.Arg112His|588/829|335/447|112/148||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||3424|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||3841|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||3858|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding||c.*518C>T|||||1032|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||439|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding||c.*170C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding||c.*998C>T|||||1032|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.*490C>T|||||1072|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay||n.*346C>T|||||1133|,A|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding|4/5|c.340+89G>A||||||,A|non_coding_exon_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron|3/3|n.962G>A||||||
22	24107034	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding|5/6|c.385G>A|p.Val129Ile|485/681|385/474|129/157||,A|missense_variant|MODERATE|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding|5/6|c.380G>A|p.Arg127His|633/829|380/447|127/148||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||3379|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||3796|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||3813|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding||c.*518C>T|||||987|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||484|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding||c.*170C>T|||||987|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding||c.*998C>T|||||987|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.*490C>T|||||1027|,A|downstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay||n.*346C>T|||||1088|,A|intron_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding|4/5|c.340+134G>A||||||,A|non_coding_exon_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron|3/3|n.1007G>A||||||
22	24108412	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/3|c.92C>T|p.Thr31Met|94/384|92/168|31/55||,A|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/4|c.333C>T|p.Tyr111Tyr|401/691|333/450|111/149||,A|synonymous_variant|LOW|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/4|c.312C>T|p.Tyr104Tyr|881/1171|312/429|104/142||,A|sequence_feature|LOW|CHCHD10|ENSG00000250479|domain:CHCH|ENST00000484558|protein_coding|3/4|c.312C>T||||||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>A|||||2001|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>A|||||2418|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>A|||||2435|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574G>A|||||364|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>A|||||1862|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021G>A|||||364|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700G>A|||||364|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513G>A|||||364|,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/2|n.240C>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/4|n.259C>T||||||
22	24108438	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|3/4|c.307C>A|p.Pro103Thr|375/691|307/450|103/149||,T|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|2/3|c.66C>A|p.Ser22Arg|68/384|66/168|22/55||,T|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|3/4|c.286C>A|p.Pro96Thr|855/1171|286/429|96/142||,T|sequence_feature|LOW|CHCHD10|ENSG00000250479|domain:CHCH|ENST00000484558|protein_coding|3/4|c.286C>A||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1G>T|||||1975|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1G>T|||||2392|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1G>T|||||2409|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574G>T|||||390|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588G>T|||||1888|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021G>T|||||390|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700G>T|||||390|,T|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513G>T|||||390|,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron|1/2|n.214C>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|3/4|n.233C>A||||||
22	24109686	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000401675|protein_coding|2/4|c.136G>T|p.Ala46Ser|204/691|136/450|46/149||,A|missense_variant|MODERATE|CHCHD10|ENSG00000250479|transcript|ENST00000484558|protein_coding|2/4|c.136G>T|p.Ala46Ser|705/1171|136/429|46/142||,A|upstream_gene_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000523865|retained_intron||n.-1G>T|||||1035|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron||n.-1C>A|||||727|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.-1C>A|||||1144|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.-1C>A|||||1161|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000305199|protein_coding||c.*574C>A|||||1638|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000498542|retained_intron||n.*588C>A|||||3136|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000477921|retained_intron||n.*2021C>A|||||1638|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000402217|protein_coding||c.*700C>A|||||1638|,A|downstream_gene_variant|MODIFIER|C22orf15|ENSG00000169314|transcript|ENST00000382821|protein_coding||c.*513C>A|||||1638|,A|intron_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000520222|protein_coding|1/2|c.41+335G>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|ENSG00000250479|transcript|ENST00000517886|nonsense_mediated_decay|2/4|n.83G>T||||||
22	24121378	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.113C>T|p.Ala38Val|165/2291|113/1467|38/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.113C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.113C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1689|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1750|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1766|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||2073|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2623|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3089|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.755C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.277C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.139C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.138C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.173C>T||||||
22	24121395	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.130G>A|p.Glu44Lys|182/2291|130/1467|44/488||,A|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.130G>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.130G>A||||||,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>A|||||1672|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>A|||||1733|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>A|||||1749|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>A|||||2056|,A|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>A|||||2606|,A|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>T|||||3072|,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.772G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.294G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.156G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.155G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.130G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.130G>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.190G>A||||||
22	24121441	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.176C>T|p.Pro59Leu|228/2291|176/1467|59/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.176C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.176C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1626|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1687|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1703|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||2010|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2560|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3026|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.818C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.340C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.202C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.201C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.176C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.176C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.236C>T||||||
22	24121447	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.182C>T|p.Pro61Leu|234/2291|182/1467|61/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.182C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.182C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1620|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1681|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1697|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||2004|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2554|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3020|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.824C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.346C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.208C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.207C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.242C>T||||||
22	24121459	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.194C>T|p.Thr65Met|246/2291|194/1467|65/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.194C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.194C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1608|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1669|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1685|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||1992|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2542|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||3008|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.836C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.358C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.220C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.219C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.194C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.194C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.254C>T||||||
22	24121521	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.256T>C|p.Ser86Pro|308/2291|256/1467|86/488||,C|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.256T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.256T>C||||||,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3T>C|||||1546|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1T>C|||||1607|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1T>C|||||1623|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1T>C|||||1930|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1T>C|||||2480|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747A>G|||||2946|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.898T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.420T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.282T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.281T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.256T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.256T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.316T>C||||||
22	24121539	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|2/8|c.274C>T|p.Arg92Cys|326/2291|274/1467|92/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|1/8|c.274C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|maturation_peptide:Activation_peptide|ENST00000215743|protein_coding|2/8|c.274C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3C>T|||||1528|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1C>T|||||1589|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1C>T|||||1605|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1C>T|||||1912|,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||2462|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||2928|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.916C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|3/6|n.438C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|2/4|n.300C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron|2/2|n.299C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|2/3|n.274C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|2/8|n.274C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|2/5|n.334C>T||||||
22	24122582	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|3/8|c.375G>C|p.Gln125His|427/2291|375/1467|125/488||,C|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*81G>C|||||975|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3G>C|||||485|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1G>C|||||546|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1G>C|||||562|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1G>C|||||869|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>C|||||1419|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>G|||||1885|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>C|||||698|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.1959G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|4/6|n.539G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|3/4|n.401G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*81G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|3/8|n.327G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|3/5|n.435G>C||||||
22	24122653	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|3/8|c.446A>C|p.His149Pro|498/2291|446/1467|149/488||,C|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*152A>C|||||1046|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.-3A>C|||||414|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.-1A>C|||||475|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.-1A>C|||||491|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.-1A>C|||||798|,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1A>C|||||1348|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747T>G|||||1814|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644A>C|||||769|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|3/8|n.2030A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript|4/6|n.610A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript|3/4|n.472A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay|3/3|n.*152A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|3/8|n.398A>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript|3/5|n.506A>C||||||
22	24123521	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|6/8|c.1000C>T|p.Arg334Cys|1052/2291|1000/1467|334/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_1|ENST00000215743|protein_coding|6/8|c.1000C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1000C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1000C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1000C>T||||||,T|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1C>T|||||480|,T|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747G>A|||||946|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||327|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||668|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||1637|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||850|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||234|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|6/8|n.2584C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/8|n.952C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|2/4|n.361C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/2|n.394C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|2/2|n.286C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|1/2|n.71C>T||||||
22	24123563	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|6/8|c.1042G>C|p.Glu348Gln|1094/2291|1042/1467|348/488||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1042G>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1042G>C||||||,C|upstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.-1G>C|||||438|,C|downstream_gene_variant|MODIFIER|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding||c.*747C>G|||||904|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929G>C|||||369|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593G>C|||||710|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644G>C|||||1679|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367G>C|||||892|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918G>C|||||276|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|6/8|n.2626G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/8|n.994G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|2/4|n.403G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|1/2|n.436G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron|2/2|n.328G>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|1/2|n.113G>C||||||
22	24124471	.	C	A	.	.	ANN=A|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|3/3|c.743G>T|p.Arg248Leu|743/747|743/747|248/248||,A|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/8|c.1134C>A|p.Thr378Thr|1186/2291|1134/1467|378/488||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|7/8|c.1134C>A||||||,A|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_2|ENST00000215743|protein_coding|6/8|c.1134C>A||||||,A|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*423C>A|||||423|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>A|||||4679|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>A|||||4679|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>A|||||4690|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>A|||||4710|,A|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>A|||||4727|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>A|||||1277|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>A|||||1618|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>A|||||2587|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>A|||||1800|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>A|||||1184|,A|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>A|||||533|,A|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1028-84C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/8|n.2718C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*423C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|2/2|n.528C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|2/2|n.205C>A||||||,A|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript|2/2|n.171C>A||||||
22	24124492	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|3/3|c.722G>A|p.Gly241Glu|722/747|722/747|241/248||,T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|7/8|c.1155C>T|p.Phe385Phe|1207/2291|1155/1467|385/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1155C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1155C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1155C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_3|ENST00000215743|protein_coding|7/8|c.1155C>T||||||,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*444C>T|||||444|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>T|||||4658|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>T|||||4658|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>T|||||4669|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>T|||||4689|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>T|||||4706|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||1298|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||1639|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||2608|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||1821|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||1205|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>T|||||554|,T|intron_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|6/7|n.1028-63C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|7/8|n.2739C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|3/4|n.*444C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron|2/2|n.549C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript|2/2|n.226C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript|2/2|n.192C>T||||||
22	24125617	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|1/3|c.529G>A|p.Ala177Thr|529/747|529/747|177/248||,T|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|8/8|c.1353C>T|p.Arg451Arg|1405/2291|1353/1467|451/488||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|7/8|c.1353C>T||||||,T|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|8/8|c.1353C>T||||||,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*98C>T|||||1025|,T|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|4/4|n.*642C>T|||||1569|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208C>T|||||3533|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208C>T|||||3533|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197C>T|||||3544|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177C>T|||||3564|,T|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160C>T|||||3581|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929C>T|||||2423|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593C>T|||||2764|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644C>T|||||3733|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367C>T|||||2946|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918C>T|||||2330|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559C>T|||||1115|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703C>T|||||1679|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549C>T|||||802|,T|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370C>T|||||947|,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|8/8|n.2937C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*98C>T||||||,T|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay|4/4|n.*642C>T||||||
22	24125689	.	T	C	.	.	ANN=C|missense_variant|MODERATE|AP000349.1|ENSG00000267954|transcript|ENST00000598975|protein_coding|1/3|c.457A>G|p.Arg153Gly|457/747|457/747|153/248||,C|synonymous_variant|LOW|MMP11|ENSG00000099953|transcript|ENST00000215743|protein_coding|8/8|c.1425T>C|p.Pro475Pro|1477/2291|1425/1467|475/488||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|7/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|8/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|disulfide_bond|ENST00000215743|protein_coding|6/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|7/8|c.1425T>C||||||,C|sequence_feature|LOW|MMP11|ENSG00000099953|repeat:Hemopexin_4|ENST00000215743|protein_coding|8/8|c.1425T>C||||||,C|3_prime_UTR_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*170T>C|||||1097|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.-208T>C|||||3461|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000417137|protein_coding||c.-208T>C|||||3461|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.-197T>C|||||3472|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.-177T>C|||||3492|,C|upstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.-160T>C|||||3509|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000477567|processed_transcript||n.*929T>C|||||2495|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000489582|processed_transcript||n.*593T>C|||||2836|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465730|retained_intron||n.*644T>C|||||3805|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000428253|nonsense_mediated_decay||n.*367T>C|||||3018|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000460352|processed_transcript||n.*918T>C|||||2402|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000434318|nonsense_mediated_decay||n.*512T>C|||||61|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000493132|retained_intron||n.*559T>C|||||1187|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000492464|retained_intron||n.*703T>C|||||1751|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000488363|processed_transcript||n.*549T>C|||||874|,C|downstream_gene_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000480185|processed_transcript||n.*370T>C|||||1019|,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000465385|retained_intron|8/8|n.3009T>C||||||,C|non_coding_exon_variant|MODIFIER|MMP11|ENSG00000099953|transcript|ENST00000437086|nonsense_mediated_decay|8/8|n.*170T>C||||||
22	24177094	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|7/7|c.640G>A|p.Ala214Thr|659/1063|640/720|214/239||,T|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*2153G>A|||||2153|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||391|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||391|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||391|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||724|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.*172G>A|||||1558|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.*372G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.*459G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding||c.*725G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding||c.*643G>A|||||1827|,T|downstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron||n.*755G>A|||||1860|,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript|2/2|n.241G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.3121G>A||||||
22	24179066	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.698C>T|p.Pro233Leu|715/860|698/708|233/235||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.698C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.698C>T||||||,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*181C>T|||||181|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*181C>T|||||181|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||365|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2363|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2363|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2363|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2696|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+185C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+185C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1149C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.227C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.314C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.643C>T||||||
22	24179132	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|7/7|c.632C>T|p.Ala211Val|649/860|632/708|211/235||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.632C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.632C>T||||||,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.*115C>T|||||115|,A|3_prime_UTR_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.*115C>T|||||115|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||431|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2429|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2429|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2429|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2762|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/6|c.614+119C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/2|n.117+119C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.1083C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|3/3|n.161C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|4/4|n.248C>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.577C>T||||||
22	24179326	.	T	A	.	.	ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|6/7|c.539A>T|p.His180Leu|558/1063|539/720|180/239||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.458A>T|p.His153Leu|477/3113|458/537|153/178||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|6/7|c.539A>T|p.His180Leu|556/860|539/708|180/235||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|6/6|c.539A>T|p.His180Leu|564/969|539/618|180/205||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|6/7|c.539A>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|7/7|c.539A>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1A>T|||||625|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392T>A|||||2623|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354T>A|||||2623|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307T>A|||||2623|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179T>A|||||2956|,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|5/5|n.889A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|2/3|n.42A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|2/3|n.68A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|3/4|n.155A>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|3/3|n.383A>T||||||
22	24179357	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|5/5|c.427C>T|p.Arg143Cys|446/3113|427/537|143/178||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|6/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|6/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|6/6|c.524-16C>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.524-16C>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>T|||||656|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>A|||||2654|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>A|||||2654|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>A|||||2654|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>A|||||2987|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/6|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|4/4|n.874-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript|1/2|n.27-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|1/2|n.53-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|2/3|n.140-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/6|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/5|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|2/2|n.368-16C>T||||||
22	24179872	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.497G>A|p.Gly166Asp|516/1063|497/720|166/239||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.497G>A|p.Gly166Asp|514/860|497/708|166/235||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.497G>A|p.Gly166Asp|522/969|497/618|166/205||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|6/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000406855|protein_coding|5/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|6/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000318109|protein_coding|5/7|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|6/6|c.497G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|transmembrane_region:Transmembrane_region|ENST00000476077|protein_coding|5/6|c.497G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||1171|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>A|||||1|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||3169|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||3169|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||3169|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||3502|,T|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+131G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|4/5|n.847G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript|1/3|n.14G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|2/4|n.113G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|2/3|n.341G>A||||||
22	24179922	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.447C>G|p.Phe149Leu|466/1063|447/720|149/239||,C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.447C>G|p.Phe149Leu|464/860|447/708|149/235||,C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.447C>G|p.Phe149Leu|472/969|447/618|149/205||,C|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-4C>G||||||,C|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-4C>G||||||,C|splice_region_variant&intron_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-4C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000406855|protein_coding|5/7|c.447C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000318109|protein_coding|5/7|c.447C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000476077|protein_coding|5/6|c.447C>G||||||,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>G|||||1221|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1C>G|||||51|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1C>G|||||37|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>C|||||3219|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>C|||||3219|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>C|||||3219|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>C|||||3552|,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+81C>G||||||
22	24179956	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|5/7|c.413G>T|p.Arg138Leu|432/1063|413/720|138/239||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|5/7|c.413G>T|p.Arg138Leu|430/860|413/708|138/235||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|5/6|c.413G>T|p.Arg138Leu|438/969|413/618|138/205||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000406855|protein_coding|5/7|c.413G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000318109|protein_coding|5/7|c.413G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Lumenal|ENST00000476077|protein_coding|5/6|c.413G>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>T|||||1255|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>T|||||85|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>T|||||71|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>A|||||3253|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>A|||||3253|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>A|||||3253|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>A|||||3586|,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|4/4|c.379+47G>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/4|n.801-38G>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript|1/3|n.67-38G>T||||||,A|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.295-38G>T||||||
22	24180581	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/5|c.298C>G|p.Arg100Gly|317/3113|298/537|100/178||,C|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/7|c.285C>G|p.Ala95Ala|304/1063|285/720|95/239||,C|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/7|c.285C>G|p.Ala95Ala|302/860|285/708|95/235||,C|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/6|c.285C>G|p.Ala95Ala|310/969|285/618|95/205||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|4/7|c.285C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|4/7|c.285C>G||||||,C|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|4/6|c.285C>G||||||,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1C>G|||||1880|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1C>G|||||710|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1C>G|||||696|,C|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1C>G|||||191|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392G>C|||||3878|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354G>C|||||3878|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307G>C|||||3878|,C|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179G>C|||||4211|,C|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+317C>G||||||,C|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/5|n.544C>G||||||
22	24180588	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|4/7|c.278G>C|p.Arg93Pro|297/1063|278/720|93/239||,G|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|4/7|c.278G>C|p.Arg93Pro|295/860|278/708|93/235||,G|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|4/6|c.278G>C|p.Arg93Pro|303/969|278/618|93/205||,G|synonymous_variant|LOW|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|3/5|c.291G>C|p.Pro97Pro|310/3113|291/537|97/178||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|4/7|c.278G>C||||||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|4/7|c.278G>C||||||,G|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|4/6|c.278G>C||||||,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>C|||||1887|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>C|||||717|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>C|||||703|,G|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>C|||||198|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>G|||||3885|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>G|||||3885|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>G|||||3885|,G|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>G|||||4218|,G|intron_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/2|n.294+310G>C||||||,G|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|3/5|n.537G>C||||||
22	24181162	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|1/7|c.13G>A|p.Gly5Arg|32/1063|13/720|5/239||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|1/5|c.13G>A|p.Gly5Arg|32/3113|13/537|5/178||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|1/7|c.13G>A|p.Gly5Arg|30/860|13/708|5/235||,T|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|1/6|c.13G>A|p.Gly5Arg|38/969|13/618|5/205||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|1/7|c.13G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|1/7|c.13G>A||||||,T|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|1/6|c.13G>A||||||,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>A|||||2461|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>A|||||1291|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>A|||||1277|,T|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>A|||||772|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>T|||||4459|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>T|||||4459|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>T|||||4459|,T|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>T|||||4792|,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|1/5|n.154G>A||||||,T|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/3|n.30G>A||||||
22	24181166	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000406855|protein_coding|1/7|c.9G>T|p.Trp3Cys|28/1063|9/720|3/239||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000404056|protein_coding|1/5|c.9G>T|p.Trp3Cys|28/3113|9/537|3/178||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000318109|protein_coding|1/7|c.9G>T|p.Trp3Cys|26/860|9/708|3/235||,A|missense_variant|MODERATE|DERL3|ENSG00000099958|transcript|ENST00000476077|protein_coding|1/6|c.9G>T|p.Trp3Cys|34/969|9/618|3/205||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000406855|protein_coding|1/7|c.9G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000318109|protein_coding|1/7|c.9G>T||||||,A|sequence_feature|LOW|DERL3|ENSG00000099958|topological_domain:Cytoplasmic|ENST00000476077|protein_coding|1/6|c.9G>T||||||,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464023|processed_transcript||n.-1G>T|||||2465|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000493596|processed_transcript||n.-1G>T|||||1295|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464034|processed_transcript||n.-1G>T|||||1281|,A|upstream_gene_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000488272|processed_transcript||n.-1G>T|||||776|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000344921|protein_coding||c.*1392C>A|||||4463|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000263121|protein_coding||c.*1354C>A|||||4463|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407422|protein_coding||c.*1307C>A|||||4463|,A|downstream_gene_variant|MODIFIER|SMARCB1|ENSG00000099956|transcript|ENST00000407082|protein_coding||c.*1179C>A|||||4796|,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000290730|retained_intron|1/5|n.150G>T||||||,A|non_coding_exon_variant|MODIFIER|DERL3|ENSG00000099958|transcript|ENST00000464110|retained_intron|1/3|n.26G>T||||||
22	24199704	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|2/13|c.28C>T|p.Arg10Trp|217/2388|28/1512|10/503||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|1/12|c.21+526C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|2/12|c.21+526C>T||||||,T|upstream_gene_variant|MODIFIER|KB-1125A3.11|ENSG00000272973|transcript|ENST00000609825|antisense||n.-1G>A|||||478|,T|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1C>T|||||4671|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron||n.-1C>T|||||358|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.-106C>T|||||378|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay||n.-218C>T|||||402|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron||n.-1C>T|||||444|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding||c.-38C>T|||||446|,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|1/11|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|1/3|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|1/4|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|1/10|n.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|1/8|n.35+526C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|2/9|n.143C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|2/8|n.138C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|2/4|n.127C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|1/4|n.518C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|1/2|n.182C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|1/5|n.28C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|1/5|n.28C>T||||||
22	24204310	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.62T>A|p.Leu21His|251/2388|62/1512|21/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.41T>A|p.Leu14His|309/3219|41/1491|14/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.41T>A|p.Leu14His|149/564|41/315|14/104||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.41T>A|p.Leu14His|78/730|41/540|14/179||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.50T>A|p.Leu17His|87/1555|50/1500|17/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|3/13|c.62T>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|2/12|c.41T>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|2/12|c.50T>A||||||,A|upstream_gene_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding||c.-1T>A|||||65|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.177T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.172T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.41T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.55T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.161T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.552T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.216T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.62T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.62T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.175T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.50T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.41T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.89T>A||||||
22	24204382	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|3/13|c.134C>T|p.Pro45Leu|323/2388|134/1512|45/503||,T|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|1/6|c.8C>T|p.Pro3Leu|8/788|8/630|3/209||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|2/12|c.113C>T|p.Pro38Leu|381/3219|113/1491|38/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|2/4|c.113C>T|p.Pro38Leu|221/564|113/315|38/104||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|2/5|c.113C>T|p.Pro38Leu|150/730|113/540|38/179||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|2/12|c.122C>T|p.Pro41Leu|159/1555|122/1500|41/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.134C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.134C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.113C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.113C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.122C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.122C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|3/9|n.249C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|3/8|n.244C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|2/11|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|2/9|n.127C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript|3/4|n.233C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|2/4|n.624C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000492516|retained_intron|2/2|n.288C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|2/5|n.134C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|2/5|n.134C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|2/3|n.247C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|2/5|n.122C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|2/12|n.113C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|2/9|n.161C>T||||||
22	24210725	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.199G>A|p.Asp67Asn|388/2388|199/1512|67/503||,A|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.73G>A|p.Asp25Asn|73/788|73/630|25/209||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.178G>A|p.Asp60Asn|446/3219|178/1491|60/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.178G>A|p.Asp60Asn|286/564|178/315|60/104||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.178G>A|p.Asp60Asn|215/730|178/540|60/179||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.187G>A|p.Asp63Asn|224/1555|187/1500|63/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|4/13|c.199G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|3/13|c.199G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|2/12|c.178G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|3/12|c.178G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|2/12|c.187G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|3/12|c.187G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*217G>A|||||798|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624G>A|||||1732|,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.314G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.309G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.178G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.192G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.689G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.199G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*217G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.312G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.187G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.178G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.226G>A||||||
22	24210816	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.290T>C|p.Ile97Thr|479/2388|290/1512|97/503||,C|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.164T>C|p.Ile55Thr|164/788|164/630|55/209||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.269T>C|p.Ile90Thr|537/3219|269/1491|90/496||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.269T>C|p.Ile90Thr|377/564|269/315|90/104||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.269T>C|p.Ile90Thr|306/730|269/540|90/179||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.278T>C|p.Ile93Thr|315/1555|278/1500|93/499||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|4/13|c.290T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|5/13|c.290T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|4/12|c.269T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|3/12|c.269T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|4/12|c.278T>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|3/12|c.278T>C||||||,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*308T>C|||||889|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624T>C|||||1823|,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.405T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.400T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.269T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.283T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.780T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.290T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*308T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.403T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.278T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.269T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.317T>C||||||
22	24210822	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|4/13|c.296T>G|p.Leu99Arg|485/2388|296/1512|99/503||,G|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|2/6|c.170T>G|p.Leu57Arg|170/788|170/630|57/209||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|3/12|c.275T>G|p.Leu92Arg|543/3219|275/1491|92/496||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000403208|protein_coding|3/4|c.275T>G|p.Leu92Arg|383/564|275/315|92/104||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding|3/5|c.275T>G|p.Leu92Arg|312/730|275/540|92/179||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|3/12|c.284T>G|p.Leu95Arg|321/1555|284/1500|95/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|4/13|c.296T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|5/13|c.296T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|4/12|c.275T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|3/12|c.275T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|4/12|c.284T>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|3/12|c.284T>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*314T>G|||||895|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000440493|processed_transcript||n.*624T>G|||||1829|,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|4/9|n.411T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|4/8|n.406T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|3/11|n.275T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|3/9|n.289T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron|3/4|n.786T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay|3/5|n.296T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay|4/5|n.*314T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000491948|retained_intron|3/3|n.409T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay|3/5|n.284T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|3/12|n.275T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|3/9|n.323T>G||||||
22	24220011	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|7/13|c.661C>T|p.Arg221Cys|850/2388|661/1512|221/503||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|6/12|c.640C>T|p.Arg214Cys|908/3219|640/1491|214/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|6/12|c.649C>T|p.Arg217Cys|686/1555|649/1500|217/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.661C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.661C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.640C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.640C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.649C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.649C>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*307C>T|||||307|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1C>T|||||34|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1C>T|||||2585|,T|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296G>A|||||1671|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577C>T|||||496|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887C>T|||||2613|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391C>T|||||537|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166C>T|||||2635|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447C>T|||||652|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+653C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+653C>T||||||,T|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+653C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|7/9|n.776C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*307C>T||||||
22	24220044	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|7/13|c.694G>A|p.Ala232Thr|883/2388|694/1512|232/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|6/12|c.673G>A|p.Ala225Thr|941/3219|673/1491|225/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|6/12|c.682G>A|p.Ala228Thr|719/1555|682/1500|228/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.694G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.694G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.673G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.673G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.682G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.682G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*340G>A|||||340|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript||n.-1G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1G>A|||||2552|,A|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296C>T|||||1638|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577G>A|||||529|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887G>A|||||2646|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391G>A|||||570|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166G>A|||||2668|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447G>A|||||685|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+686G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+686G>A||||||,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+686G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|7/9|n.809G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*340G>A||||||
22	24220053	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|7/13|c.703G>C|p.Ala235Pro|892/2388|703/1512|235/503||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|6/12|c.682G>C|p.Ala228Pro|950/3219|682/1491|228/496||,C|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|6/12|c.691G>C|p.Ala231Pro|728/1555|691/1500|231/499||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.703G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.703G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.682G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.682G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.691G>C||||||,C|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.691G>C||||||,C|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*349G>C|||||349|,C|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.-1G>C|||||2543|,C|downstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.*296C>G|||||1629|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405847|protein_coding||c.*577G>C|||||538|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473740|retained_intron||n.*887G>C|||||2655|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000423972|nonsense_mediated_decay||n.*391G>C|||||579|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000418102|nonsense_mediated_decay||n.*166G>C|||||2677|,C|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000436643|nonsense_mediated_decay||n.*447G>C|||||694|,C|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+695G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|6/7|n.667+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|5/10|n.*235+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|5/8|n.546+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|5/8|n.584+695G>C||||||,C|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.212+695G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|7/9|n.818G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|6/12|n.*349G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|1/6|n.9G>C||||||
22	24224655	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.716G>A|p.Arg239Gln|905/2388|716/1512|239/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.695G>A|p.Arg232Gln|963/3219|695/1491|232/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.704G>A|p.Arg235Gln|741/1555|704/1500|235/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.716G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.716G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.695G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.695G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.704G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.704G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*245G>A|||||7332|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*362G>A|||||4951|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2678|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||492|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5297G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|2/3|n.213-27G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.831G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.677G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*245G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.556G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*362G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.594G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.22G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2060G>A||||||
22	24224709	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.770G>A|p.Arg257His|959/2388|770/1512|257/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.749G>A|p.Arg250His|1017/3219|749/1491|250/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.758G>A|p.Arg253His|795/1555|758/1500|253/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.770G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.770G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.749G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.749G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.758G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.758G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*299G>A|||||7386|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*416G>A|||||5005|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2732|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||438|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5351G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.885G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.731G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*299G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.610G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*416G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.648G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|3/4|n.240G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.76G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2114G>A||||||
22	24224736	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.797G>A|p.Arg266Gln|986/2388|797/1512|266/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.776G>A|p.Arg259Gln|1044/3219|776/1491|259/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.785G>A|p.Arg262Gln|822/1555|785/1500|262/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|7/13|c.797G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|8/13|c.797G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|7/12|c.776G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|6/12|c.776G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|7/12|c.785G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|6/12|c.785G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*326G>A|||||7413|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*443G>A|||||5032|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2759|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||411|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5378G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.912G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.758G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*326G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.637G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*443G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.675G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|3/4|n.267G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.103G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2141G>A||||||
22	24224826	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|8/13|c.887A>G|p.Asn296Ser|1076/2388|887/1512|296/503||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|7/12|c.866A>G|p.Asn289Ser|1134/3219|866/1491|289/496||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|7/12|c.875A>G|p.Asn292Ser|912/1555|875/1500|292/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|8/13|c.887A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|9/13|c.887A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|7/12|c.866A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|8/12|c.866A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|7/12|c.875A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|8/12|c.875A>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*416A>G|||||7503|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*533A>G|||||5122|,G|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>C|||||2849|,G|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1A>G|||||321|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5468A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|8/9|n.1002A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|7/8|n.848A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|6/11|n.*416A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|6/9|n.727A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|7/12|n.*533A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|6/9|n.765A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|3/4|n.357A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|2/6|n.193A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|1/2|n.2231A>G||||||
22	24224973	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|9/13|c.922C>T|p.Arg308Trp|1111/2388|922/1512|308/503||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|8/12|c.901C>T|p.Arg301Trp|1169/3219|901/1491|301/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|8/12|c.910C>T|p.Arg304Trp|947/1555|910/1500|304/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|9/13|c.922C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|8/12|c.901C>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|8/12|c.910C>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*451C>T|||||7650|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*568C>T|||||5269|,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1G>A|||||2996|,T|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1C>T|||||174|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5615C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|9/9|n.1037C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|8/8|n.883C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*451C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|7/9|n.762C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*568C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.800C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|4/4|n.392C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/6|n.228C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|2/2|n.2266C>T||||||
22	24224974	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|9/13|c.923G>A|p.Arg308Gln|1112/2388|923/1512|308/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|8/12|c.902G>A|p.Arg301Gln|1170/3219|902/1491|301/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|8/12|c.911G>A|p.Arg304Gln|948/1555|911/1500|304/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000398356|protein_coding|9/13|c.923G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000345044|protein_coding|8/12|c.902G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Extracellular|ENST00000316185|protein_coding|8/12|c.911G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*452G>A|||||7651|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*569G>A|||||5270|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||2997|,A|upstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron||n.-1G>A|||||173|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+5616G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript|9/9|n.1038G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript|8/8|n.884G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|7/11|n.*452G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|7/9|n.763G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|8/12|n.*569G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.801G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript|4/4|n.393G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/6|n.229G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron|2/2|n.2267G>A||||||
22	24225971	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|10/13|c.1018G>A|p.Glu340Lys|1207/2388|1018/1512|340/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|9/12|c.997G>A|p.Glu333Lys|1265/3219|997/1491|333/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|9/12|c.1006G>A|p.Glu336Lys|1043/1555|1006/1500|336/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|10/13|c.1018G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|9/12|c.997G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|9/12|c.1006G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|8/11|n.*547G>A|||||8648|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|9/12|n.*664G>A|||||6267|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||3994|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||832|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||833|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||832|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||477|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+6613G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|3/5|n.312-165G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|8/11|n.*547G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.858G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|9/12|n.*664G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|7/9|n.1798G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.825G>A||||||
22	24226584	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|12/13|c.1279A>T|p.Ile427Phe|1468/2388|1279/1512|427/503||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|11/12|c.1258A>T|p.Ile420Phe|1526/3219|1258/1491|420/496||,T|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|11/12|c.1267A>T|p.Ile423Phe|1304/1555|1267/1500|423/499||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|12/13|c.1279A>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|11/12|c.1258A>T||||||,T|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|11/12|c.1267A>T||||||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*808A>T|||||9261|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*925A>T|||||6880|,T|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>A|||||4607|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>T|||||1445|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>T|||||1446|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>T|||||1445|,T|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>T|||||1090|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7226A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|10/11|n.*808A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|8/9|n.1471A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|11/12|n.*925A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|8/9|n.2134A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|5/6|n.483A>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|1/2|n.1438A>T||||||
22	24226890	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.1366G>A|p.Ala456Thr|1555/2388|1366/1512|456/503||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.1345G>A|p.Ala449Thr|1613/3219|1345/1491|449/496||,A|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.1354G>A|p.Ala452Thr|1391/1555|1354/1500|452/499||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000398356|protein_coding|13/13|c.1366G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000345044|protein_coding|12/12|c.1345G>A||||||,A|sequence_feature|LOW|SLC2A11|ENSG00000133460|transmembrane_region:Transmembrane_region|ENST00000316185|protein_coding|12/12|c.1354G>A||||||,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*895G>A|||||9567|,A|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1012G>A|||||7186|,A|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1C>T|||||4913|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203G>A|||||1751|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048G>A|||||1752|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558G>A|||||1751|,A|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787G>A|||||1396|,A|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7532G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*895G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1558G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1012G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2221G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|6/6|n.570G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1525G>A||||||
22	24226950	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000398356|protein_coding|13/13|c.1426A>G|p.Lys476Glu|1615/2388|1426/1512|476/503||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000345044|protein_coding|12/12|c.1405A>G|p.Lys469Glu|1673/3219|1405/1491|469/496||,G|missense_variant|MODERATE|SLC2A11|ENSG00000133460|transcript|ENST00000316185|protein_coding|12/12|c.1414A>G|p.Lys472Glu|1451/1555|1414/1500|472/499||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000398356|protein_coding|13/13|c.1426A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000345044|protein_coding|12/12|c.1405A>G||||||,G|sequence_feature|LOW|SLC2A11|ENSG00000133460|topological_domain:Cytoplasmic|ENST00000316185|protein_coding|12/12|c.1414A>G||||||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*955A>G|||||9627|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1072A>G|||||7246|,G|upstream_gene_variant|MODIFIER|RN7SL268P|ENSG00000244425|transcript|ENST00000491172|misc_RNA||n.-1T>C|||||4973|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000467660|processed_transcript||n.*1203A>G|||||1811|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405286|processed_transcript||n.*1048A>G|||||1812|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000482576|processed_transcript||n.*558A>G|||||1811|,G|downstream_gene_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000473357|retained_intron||n.*2787A>G|||||1456|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.431+7592A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000255830|nonsense_mediated_decay|11/11|n.*955A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000489322|retained_intron|9/9|n.1618A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000405340|nonsense_mediated_decay|12/12|n.*1072A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000461809|retained_intron|9/9|n.2281A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000472526|processed_transcript|6/6|n.630A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|ENSG00000133460|transcript|ENST00000486907|retained_intron|2/2|n.1585A>G||||||
22	24236666	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/3|c.5C>G|p.Pro2Arg|476/939|5/348|2/115||,G|sequence_feature|LOW|MIF|ENSG00000240972|active_site:Proton_acceptor|ENST00000215754|protein_coding|1/3|c.5C>G||||||,G|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*569G>C|||||569|,G|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1C>G|||||219|,G|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-293C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/2|n.30C>G||||||
22	24236708	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|1/3|c.47C>T|p.Pro16Leu|518/939|47/348|16/115||,T|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*527G>A|||||527|,T|upstream_gene_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron||n.-1C>T|||||177|,T|intron_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|4/5|c.432-251C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|1/2|n.72C>T||||||
22	24237108	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|5/6|c.581G>A|p.Ser194Asn|581/788|581/630|194/209||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|2/3|c.258G>A|p.Glu86Glu|729/939|258/348|86/115||,A|sequence_feature|LOW|MIF|ENSG00000240972|helix|ENST00000215754|protein_coding|2/3|c.258G>A||||||,A|3_prime_UTR_variant|MODIFIER|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.*127C>T|||||127|,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.283G>A||||||,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|1/2|n.224G>A||||||
22	24237283	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|3/3|c.338C>T|p.Thr113Ile|809/939|338/348|113/115||,T|synonymous_variant|LOW|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.522G>A|p.Arg174Arg|806/1476|522/570|174/189||,T|sequence_feature|LOW|MIF|ENSG00000240972|beta_strand|ENST00000215754|protein_coding|3/3|c.338C>T||||||,T|3_prime_UTR_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|6/6|c.*31C>T|||||31|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.458C>T||||||,T|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|2/2|n.304C>T||||||
22	24237303	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AP000350.4|ENSG00000218537|transcript|ENST00000406213|protein_coding|3/3|c.502C>T|p.Pro168Ser|786/1476|502/570|168/189||,A|3_prime_UTR_variant|MODIFIER|AP000350.10|ENSG00000251357|transcript|ENST00000433835|protein_coding|6/6|c.*51G>A|||||51|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000215754|protein_coding|3/3|c.*10G>A|||||10|,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000465752|retained_intron|2/2|n.478G>A||||||,A|non_coding_exon_variant|MODIFIER|MIF|ENSG00000240972|transcript|ENST00000498385|retained_intron|2/2|n.324G>A||||||
22	24313483	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.293C>T|p.Thr98Met|307/1545|293/405|98/134||,T|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663C>T|||||1421|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546G>A|||||1810|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding||c.*527G>A|||||71|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding||c.*485G>A|||||71|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding||c.*152G>A|||||76|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding||c.*632G>A|||||84|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048G>A|||||1787|,T|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369G>A|||||1810|
22	24313802	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000398344|protein_coding|3/3|c.295C>T|p.Arg99Cys|465/713|295/357|99/118||,A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000350608|protein_coding|4/4|c.295C>T|p.Arg99Cys|423/671|295/357|99/118||,A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000428792|protein_coding|2/2|c.88C>T|p.Arg30Cys|90/333|88/150|30/49||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|DDT|ENSG00000099977|transcript|ENST00000404092|protein_coding|5/5|c.337C>T|p.Arg113Cys|570/805|337/399|113/132||,A|sequence_feature|LOW|DDT|ENSG00000099977|beta_strand|ENST00000350608|protein_coding|4/4|c.295C>T||||||,A|3_prime_UTR_variant|MODIFIER|DDTL|ENSG00000099974|transcript|ENST00000215770|protein_coding|3/3|c.*207G>A|||||207|,A|downstream_gene_variant|MODIFIER|KB-226F1.2|ENSG00000272787|transcript|ENST00000609736|lincRNA||n.*663G>A|||||1740|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000403754|protein_coding||c.*546C>T|||||1491|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000444947|retained_intron||n.*1048C>T|||||1468|,A|downstream_gene_variant|MODIFIER|DDT|ENSG00000099977|transcript|ENST00000430101|protein_coding||c.*369C>T|||||1491|
22	24376845	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|4/5|c.505G>A|p.Val169Ile|558/1066|505/723|169/240||,T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|3/4|c.151G>A|p.Val51Ile|428/778|151/369|51/122||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|5/5|c.505G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|4/5|c.505G>A||||||,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*128G>A|||||128|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*215G>A|||||2577|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*150G>A|||||150|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*282G>A|||||2644|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563C>T|||||2802|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||634|,T|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281C>T|||||3060|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay||n.*385G>A|||||70|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||3029|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||4676|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||4860|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-228G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-228G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*128G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*215G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*150G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*282G>A||||||
22	24376865	.	T	A	.	.	ANN=A|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|4/5|c.485A>T|p.His162Leu|538/1066|485/723|162/240||,A|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|3/4|c.131A>T|p.His44Leu|408/778|131/369|44/122||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.485A>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.485A>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.485A>T||||||,A|sequence_feature|LOW|GSTT1|ENSG00000184674|beta_strand|ENST00000248935|protein_coding|4/5|c.485A>T||||||,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*108A>T|||||108|,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*195A>T|||||2557|,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*130A>T|||||130|,A|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*262A>T|||||2624|,A|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000439866|unprocessed_pseudogene||n.*563T>A|||||2822|,A|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650T>A|||||654|,A|downstream_gene_variant|MODIFIER|AP000351.10|ENSG00000235231|transcript|ENST00000503903|unprocessed_pseudogene||n.*281T>A|||||3080|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay||n.*385A>T|||||50|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066A>T|||||3009|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566A>T|||||4656|,A|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559A>T|||||4840|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/1|c.133-248A>T||||||,A|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-248A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|2/3|n.*108A>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|3/4|n.*195A>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|4/5|n.*130A>T||||||,A|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|3/4|n.*262A>T||||||
22	24379392	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.320G>A|p.Arg107Gln|373/1066|320/723|107/240||,T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.101G>A|p.Arg34Gln|101/617|101/327|34/108||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.320G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.320G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.320G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.320G>A||||||,T|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-35G>A|||||2397|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*30G>A|||||30|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*97G>A|||||97|,T|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*84G>A|||||84|,T|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650C>T|||||3181|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066G>A|||||482|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566G>A|||||2129|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559G>A|||||2313|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586G>A|||||3541|,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2394G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2775G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*30G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/5|n.259G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*97G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*84G>A||||||
22	24379402	.	T	G	.	.	ANN=G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.310A>C|p.Thr104Pro|363/1066|310/723|104/240||,G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.91A>C|p.Thr31Pro|91/617|91/327|31/108||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.310A>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.310A>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.310A>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.310A>C||||||,G|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-45A>C|||||2407|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*20A>C|||||20|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*87A>C|||||87|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*74A>C|||||74|,G|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650T>G|||||3191|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066A>C|||||472|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566A>C|||||2119|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559A>C|||||2303|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586A>C|||||3531|,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2404A>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2785A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*20A>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/5|n.249A>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*87A>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*74A>C||||||
22	24379411	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|3/5|c.301T>C|p.Trp101Arg|354/1066|301/723|101/240||,G|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding|1/2|c.82T>C|p.Trp28Arg|82/617|82/327|28/108||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|3/5|c.301T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|5/5|c.301T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_C-terminal|ENST00000248935|protein_coding|4/5|c.301T>C||||||,G|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|3/5|c.301T>C||||||,G|5_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|2/4|c.-54T>C|||||2416|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*11T>C|||||11|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*78T>C|||||78|,G|3_prime_UTR_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*65T>C|||||65|,G|downstream_gene_variant|MODIFIER|KB-226F1.1|ENSG00000272955|transcript|ENST00000608619|antisense||n.*650A>G|||||3200|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron||n.*2066T>C|||||463|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron||n.*566T>C|||||2110|,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding||c.*559T>C|||||2294|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586T>C|||||3522|,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.113-2413T>C||||||,G|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.113-2794T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|2/4|n.*11T>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|3/5|n.240T>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|2/4|n.*78T>C||||||,G|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|4/5|n.*65T>C||||||
22	24381773	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000248935|protein_coding|2/5|c.127G>A|p.Asp43Asn|180/1066|127/723|43/240||,T|missense_variant|MODERATE|GSTT1|ENSG00000184674|transcript|ENST00000447865|protein_coding|3/3|c.127G>A|p.Asp43Asn|491/559|127/195|43/64||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|2/5|c.127G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|1/5|c.127G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|domain:GST_N-terminal|ENST00000248935|protein_coding|3/5|c.127G>A||||||,T|sequence_feature|LOW|GSTT1|ENSG00000184674|helix|ENST00000248935|protein_coding|2/5|c.127G>A||||||,T|upstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000436103|protein_coding||c.-1G>A|||||2281|,T|downstream_gene_variant|MODIFIER|GSTTP2|ENSG00000239334|transcript|ENST00000485225|transcribed_unprocessed_pseudogene||n.*2070G>A|||||4165|,T|downstream_gene_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000486544|retained_intron||n.*586G>A|||||1160|,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417831|nonsense_mediated_decay|1/2|n.112+2347G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000426209|nonsense_mediated_decay|1/3|n.113-2323G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417489|nonsense_mediated_decay|1/3|n.113-2262G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000439996|protein_coding|1/3|c.-154-2262G>A||||||,T|intron_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000417870|protein_coding|1/1|c.112+2347G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000458231|nonsense_mediated_decay|2/5|n.127G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000418883|nonsense_mediated_decay|3/5|n.236G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000480898|retained_intron|2/2|n.167G>A||||||,T|non_coding_exon_variant|MODIFIER|GSTT1|ENSG00000184674|transcript|ENST00000428175|retained_intron|2/2|n.314G>A||||||
22	24432541	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|3/37|c.8G>A|p.Arg3Gln|135/7222|8/6663|3/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|3/9|c.8G>A|p.Arg3Gln|258/1321|8/1071|3/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|3/36|c.8G>A|p.Arg3Gln|102/6952|8/6426|3/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|3/9|c.8G>A|p.Arg3Gln|395/1472|8/1085|3/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|3/37|c.8G>A|p.Arg3Gln|393/7480|8/6663|3/2220||
22	24434850	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|4/37|c.151C>T|p.Arg51Trp|278/7222|151/6663|51/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|4/9|c.151C>T|p.Arg51Trp|401/1321|151/1071|51/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|4/36|c.151C>T|p.Arg51Trp|245/6952|151/6426|51/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|4/9|c.151C>T|p.Arg51Trp|538/1472|151/1085|51/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|4/37|c.151C>T|p.Arg51Trp|536/7480|151/6663|51/2220||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_1|ENST00000263119|protein_coding|4/37|c.151C>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_1|ENST00000405822|protein_coding|4/36|c.151C>T||||||
22	24447303	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|8/37|c.673G>A|p.Asp225Asn|800/7222|673/6663|225/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|7/9|c.538G>A|p.Asp180Asn|788/1321|538/1071|180/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|7/9|c.538G>A|p.Asp180Asn|925/1472|538/1085|180/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|8/37|c.673G>A|p.Asp225Asn|1058/7480|673/6663|225/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1G>A|||||4228|,A|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1621G>A||||||
22	24447387	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|8/37|c.757C>T|p.Arg253Trp|884/7222|757/6663|253/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|7/9|c.622C>T|p.Arg208Trp|872/1321|622/1071|208/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|7/9|c.622C>T|p.Arg208Trp|1009/1472|622/1085|208/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|8/37|c.757C>T|p.Arg253Trp|1142/7480|757/6663|253/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||4144|,T|intron_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|7/35|c.656+1705C>T||||||
22	24451389	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.860G>A|p.Cys287Tyr|987/7222|860/6663|287/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.725G>A|p.Cys242Tyr|975/1321|725/1071|242/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.710G>A|p.Cys237Tyr|804/6952|710/6426|237/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.725G>A|p.Cys242Tyr|1112/1472|725/1085|242/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.860G>A|p.Cys287Tyr|1245/7480|860/6663|287/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1G>A|||||142|
22	24451454	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.925C>T|p.Pro309Ser|1052/7222|925/6663|309/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.790C>T|p.Pro264Ser|1040/1321|790/1071|264/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.775C>T|p.Pro259Ser|869/6952|775/6426|259/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.790C>T|p.Pro264Ser|1177/1472|790/1085|264/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.925C>T|p.Pro309Ser|1310/7480|925/6663|309/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>T|||||77|
22	24451504	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.975C>A|p.Ser325Arg|1102/7222|975/6663|325/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.840C>A|p.Ser280Arg|1090/1321|840/1071|280/356||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.825C>A|p.Ser275Arg|919/6952|825/6426|275/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.840C>A|p.Ser280Arg|1227/1472|840/1085|280/360||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.975C>A|p.Ser325Arg|1360/7480|975/6663|325/2220||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.-1C>A|||||27|
22	24451580	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|9/37|c.1051C>T|p.Pro351Ser|1178/7222|1051/6663|351/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding|8/9|c.916C>T|p.Pro306Ser|1166/1321|916/1071|306/356||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|8/36|c.901C>T|p.Pro301Ser|995/6952|901/6426|301/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding|8/9|c.916C>T|p.Pro306Ser|1303/1472|916/1085|306/360||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|9/37|c.1051C>T|p.Pro351Ser|1436/7480|1051/6663|351/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron|1/2|n.50C>T||||||
22	24456473	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|12/37|c.1486G>A|p.Gly496Ser|1613/7222|1486/6663|496/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|11/36|c.1336G>A|p.Gly446Ser|1430/6952|1336/6426|446/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|12/37|c.1486G>A|p.Gly496Ser|1871/7480|1486/6663|496/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3706|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3692|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||3485|
22	24456512	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|12/37|c.1525G>A|p.Glu509Lys|1652/7222|1525/6663|509/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|11/36|c.1375G>A|p.Glu459Lys|1469/6952|1375/6426|459/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|12/37|c.1525G>A|p.Glu509Lys|1910/7480|1525/6663|509/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3745|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3731|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||3524|
22	24456518	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|12/37|c.1531G>A|p.Val511Met|1658/7222|1531/6663|511/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|11/36|c.1381G>A|p.Val461Met|1475/6952|1381/6426|461/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|12/37|c.1531G>A|p.Val511Met|1916/7480|1531/6663|511/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000454754|protein_coding||c.*1321G>A|||||3751|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000445422|protein_coding||c.*1472G>A|||||3737|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000474981|retained_intron||n.*426G>A|||||3530|
22	24460593	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|15/37|c.1980A>C|p.Arg660Ser|2107/7222|1980/6663|660/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|14/36|c.1830A>C|p.Arg610Ser|1924/6952|1830/6426|610/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|15/37|c.1980A>C|p.Arg660Ser|2365/7480|1980/6663|660/2220||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1A>C|||||2363|
22	24460606	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|15/37|c.1993C>T|p.Arg665Trp|2120/7222|1993/6663|665/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|14/36|c.1843C>T|p.Arg615Trp|1937/6952|1843/6426|615/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|15/37|c.1993C>T|p.Arg665Trp|2378/7480|1993/6663|665/2220||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.-1C>T|||||2350|
22	24466964	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|17/37|c.2446C>T|p.Leu816Phe|2573/7222|2446/6663|816/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|16/36|c.2296C>T|p.Leu766Phe|2390/6952|2296/6426|766/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|17/37|c.2446C>T|p.Leu816Phe|2831/7480|2446/6663|816/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron|2/2|n.391C>T||||||
22	24466967	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|17/37|c.2449G>A|p.Val817Met|2576/7222|2449/6663|817/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|16/36|c.2299G>A|p.Val767Met|2393/6952|2299/6426|767/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|17/37|c.2449G>A|p.Val817Met|2834/7480|2449/6663|817/2220||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron|2/2|n.394G>A||||||
22	24468346	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2518C>G|p.Pro840Ala|2645/7222|2518/6663|840/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2368C>G|p.Pro790Ala|2462/6952|2368/6426|790/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2518C>G|p.Pro840Ala|2903/7480|2518/6663|840/2220||,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>G|||||1212|
22	24468386	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2558G>A|p.Arg853Gln|2685/7222|2558/6663|853/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2408G>A|p.Arg803Gln|2502/6952|2408/6426|803/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2558G>A|p.Arg853Gln|2943/7480|2558/6663|853/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561G>A|||||1252|
22	24468448	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2620C>T|p.Pro874Ser|2747/7222|2620/6663|874/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2470C>T|p.Pro824Ser|2564/6952|2470/6426|824/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2620C>T|p.Pro874Ser|3005/7480|2620/6663|874/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>T|||||1314|
22	24468449	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2621C>T|p.Pro874Leu|2748/7222|2621/6663|874/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2471C>T|p.Pro824Leu|2565/6952|2471/6426|824/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2621C>T|p.Pro874Leu|3006/7480|2621/6663|874/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>T|||||1315|
22	24468452	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|18/37|c.2624C>T|p.Ala875Val|2751/7222|2624/6663|875/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|17/36|c.2474C>T|p.Ala825Val|2568/6952|2474/6426|825/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|18/37|c.2624C>T|p.Ala875Val|3009/7480|2624/6663|875/2220||,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>T|||||1318|
22	24472130	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/37|c.2645C>A|p.Thr882Lys|2772/7222|2645/6663|882/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/36|c.2495C>A|p.Thr832Lys|2589/6952|2495/6426|832/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/37|c.2645C>A|p.Thr882Lys|3030/7480|2645/6663|882/2220||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000484593|retained_intron||n.*561C>A|||||4996|
22	24472135	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|19/37|c.2650A>G|p.Met884Val|2777/7222|2650/6663|884/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|18/36|c.2500A>G|p.Met834Val|2594/6952|2500/6426|834/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|19/37|c.2650A>G|p.Met884Val|3035/7480|2650/6663|884/2220||
22	24479193	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/37|c.2761C>G|p.Gln921Glu|2888/7222|2761/6663|921/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/36|c.2611C>G|p.Gln871Glu|2705/6952|2611/6426|871/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/37|c.2761C>G|p.Gln921Glu|3146/7480|2761/6663|921/2220||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>G|||||4348|
22	24479288	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|20/37|c.2856C>G|p.Ser952Arg|2983/7222|2856/6663|952/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|19/36|c.2706C>G|p.Ser902Arg|2800/6952|2706/6426|902/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|20/37|c.2856C>G|p.Ser952Arg|3241/7480|2856/6663|952/2220||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>G|||||4253|
22	24481006	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|22/37|c.3165C>G|p.Asn1055Lys|3292/7222|3165/6663|1055/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|21/36|c.3015C>G|p.Asn1005Lys|3109/6952|3015/6426|1005/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|22/37|c.3165C>G|p.Asn1055Lys|3550/7480|3165/6663|1055/2220||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|22/37|c.3165C>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|23/37|c.3165C>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|21/36|c.3015C>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|22/36|c.3015C>G||||||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1C>G|||||2535|
22	24481078	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|22/37|c.3237G>T|p.Met1079Ile|3364/7222|3237/6663|1079/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|21/36|c.3087G>T|p.Met1029Ile|3181/6952|3087/6426|1029/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|22/37|c.3237G>T|p.Met1079Ile|3622/7480|3237/6663|1079/2220||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|22/37|c.3237G>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000263119|protein_coding|23/37|c.3237G>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|21/36|c.3087G>T||||||,T|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_5|ENST00000405822|protein_coding|22/36|c.3087G>T||||||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1G>T|||||2463|
22	24483493	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|23/37|c.3352A>G|p.Ile1118Val|3479/7222|3352/6663|1118/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|22/36|c.3202A>G|p.Ile1068Val|3296/6952|3202/6426|1068/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|23/37|c.3352A>G|p.Ile1118Val|3737/7480|3352/6663|1118/2220||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000263119|protein_coding|23/37|c.3352A>G||||||,G|sequence_feature|LOW|CABIN1|ENSG00000099991|repeat:TPR_6|ENST00000405822|protein_coding|22/36|c.3202A>G||||||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron||n.-1A>G|||||48|
22	24487546	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3535C>T|p.Arg1179Trp|3662/7222|3535/6663|1179/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3385C>T|p.Arg1129Trp|3479/6952|3385/6426|1129/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3535C>T|p.Arg1179Trp|3920/7480|3535/6663|1179/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.136C>T||||||
22	24487738	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3727C>T|p.Arg1243Cys|3854/7222|3727/6663|1243/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3577C>T|p.Arg1193Cys|3671/6952|3577/6426|1193/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3727C>T|p.Arg1243Cys|4112/7480|3727/6663|1243/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.328C>T||||||
22	24487739	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|24/37|c.3728G>A|p.Arg1243His|3855/7222|3728/6663|1243/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|23/36|c.3578G>A|p.Arg1193His|3672/6952|3578/6426|1193/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|24/37|c.3728G>A|p.Arg1243His|4113/7480|3728/6663|1243/2220||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000496016|retained_intron|2/2|n.329G>A||||||
22	24509662	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/37|c.4247G>A|p.Ser1416Asn|4374/7222|4247/6663|1416/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/36|c.4010G>A|p.Ser1337Asn|4104/6952|4010/6426|1337/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/37|c.4247G>A|p.Ser1416Asn|4632/7480|4247/6663|1416/2220||,A|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/3|n.300G>A||||||
22	24509680	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|27/37|c.4265C>T|p.Thr1422Met|4392/7222|4265/6663|1422/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|26/36|c.4028C>T|p.Thr1343Met|4122/6952|4028/6426|1343/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|27/37|c.4265C>T|p.Thr1422Met|4650/7480|4265/6663|1422/2220||,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|2/3|n.318C>T||||||
22	24515436	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|28/37|c.4403G>C|p.Gly1468Ala|4530/7222|4403/6663|1468/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|27/36|c.4166G>C|p.Gly1389Ala|4260/6952|4166/6426|1389/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|28/37|c.4403G>C|p.Gly1468Ala|4788/7480|4403/6663|1468/2220||,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000467937|retained_intron|3/3|n.456G>C||||||
22	24560427	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|30/37|c.4806G>T|p.Met1602Ile|4933/7222|4806/6663|1602/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|29/36|c.4569G>T|p.Met1523Ile|4663/6952|4569/6426|1523/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|30/37|c.4806G>T|p.Met1602Ile|5191/7480|4806/6663|1602/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|2/8|c.81G>T|p.Met27Ile|299/2422|81/1773|27/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>T|||||2764|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript|4/4|n.331G>T||||||
22	24562664	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5065G>A|p.Asp1689Asn|5192/7222|5065/6663|1689/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.4828G>A|p.Asp1610Asn|4922/6952|4828/6426|1610/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5065G>A|p.Asp1689Asn|5450/7480|5065/6663|1689/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.340G>A|p.Asp114Asn|558/2422|340/1773|114/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||527|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2207|
22	24562844	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5245G>A|p.Asp1749Asn|5372/7222|5245/6663|1749/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5008G>A|p.Asp1670Asn|5102/6952|5008/6426|1670/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5245G>A|p.Asp1749Asn|5630/7480|5245/6663|1749/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.520G>A|p.Asp174Asn|738/2422|520/1773|174/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||347|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2387|
22	24562852	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5253G>C|p.Glu1751Asp|5380/7222|5253/6663|1751/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5016G>C|p.Glu1672Asp|5110/6952|5016/6426|1672/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5253G>C|p.Glu1751Asp|5638/7480|5253/6663|1751/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.528G>C|p.Glu176Asp|746/2422|528/1773|176/590||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>C|||||339|,C|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>C|||||2395|
22	24562940	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5341C>T|p.Pro1781Ser|5468/7222|5341/6663|1781/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5104C>T|p.Pro1702Ser|5198/6952|5104/6426|1702/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5341C>T|p.Pro1781Ser|5726/7480|5341/6663|1781/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.616C>T|p.Pro206Ser|834/2422|616/1773|206/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1C>T|||||251|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361C>T|||||2483|
22	24562944	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5345G>A|p.Gly1782Asp|5472/7222|5345/6663|1782/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5108G>A|p.Gly1703Asp|5202/6952|5108/6426|1703/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5345G>A|p.Gly1782Asp|5730/7480|5345/6663|1782/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.620G>A|p.Gly207Asp|838/2422|620/1773|207/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||247|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2487|
22	24562970	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5371G>A|p.Glu1791Lys|5498/7222|5371/6663|1791/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5134G>A|p.Glu1712Lys|5228/6952|5134/6426|1712/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5371G>A|p.Glu1791Lys|5756/7480|5371/6663|1791/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.646G>A|p.Glu216Lys|864/2422|646/1773|216/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||221|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2513|
22	24562977	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5378G>A|p.Arg1793Gln|5505/7222|5378/6663|1793/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5141G>A|p.Arg1714Gln|5235/6952|5141/6426|1714/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5378G>A|p.Arg1793Gln|5763/7480|5378/6663|1793/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.653G>A|p.Arg218Gln|871/2422|653/1773|218/590||,A|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.-1G>A|||||214|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361G>A|||||2520|
22	24563226	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|32/37|c.5627A>G|p.Tyr1876Cys|5754/7222|5627/6663|1876/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|31/36|c.5390A>G|p.Tyr1797Cys|5484/6952|5390/6426|1797/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|32/37|c.5627A>G|p.Tyr1876Cys|6012/7480|5627/6663|1876/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|4/8|c.902A>G|p.Tyr301Cys|1120/2422|902/1773|301/590||,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000495121|processed_transcript||n.*361A>G|||||2769|,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|1/4|n.36A>G||||||
22	24567744	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5821G>C|p.Val1941Leu|5948/7222|5821/6663|1941/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5584G>C|p.Val1862Leu|5678/6952|5584/6426|1862/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5821G>C|p.Val1941Leu|6206/7480|5821/6663|1941/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1096G>C|p.Val366Leu|1314/2422|1096/1773|366/590||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1G>C|||||4003|,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.230G>C||||||
22	24567795	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5872C>T|p.Arg1958Trp|5999/7222|5872/6663|1958/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5635C>T|p.Arg1879Trp|5729/6952|5635/6426|1879/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5872C>T|p.Arg1958Trp|6257/7480|5872/6663|1958/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1147C>T|p.Arg383Trp|1365/2422|1147/1773|383/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3952|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.281C>T||||||
22	24567805	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5882A>C|p.Asp1961Ala|6009/7222|5882/6663|1961/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5645A>C|p.Asp1882Ala|5739/6952|5645/6426|1882/2141||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5882A>C|p.Asp1961Ala|6267/7480|5882/6663|1961/2220||,C|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1157A>C|p.Asp386Ala|1375/2422|1157/1773|386/590||,C|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>C|||||3942|,C|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.291A>C||||||
22	24567823	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5900G>T|p.Arg1967Leu|6027/7222|5900/6663|1967/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5663G>T|p.Arg1888Leu|5757/6952|5663/6426|1888/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5900G>T|p.Arg1967Leu|6285/7480|5900/6663|1967/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1175G>T|p.Arg392Leu|1393/2422|1175/1773|392/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1G>T|||||3924|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.309G>T||||||
22	24567865	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5942C>T|p.Pro1981Leu|6069/7222|5942/6663|1981/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5705C>T|p.Pro1902Leu|5799/6952|5705/6426|1902/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5942C>T|p.Pro1981Leu|6327/7480|5942/6663|1981/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1217C>T|p.Pro406Leu|1435/2422|1217/1773|406/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3882|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.351C>T||||||
22	24567891	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5968C>G|p.Gln1990Glu|6095/7222|5968/6663|1990/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5731C>G|p.Gln1911Glu|5825/6952|5731/6426|1911/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5968C>G|p.Gln1990Glu|6353/7480|5968/6663|1990/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1243C>G|p.Gln415Glu|1461/2422|1243/1773|415/590||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>G|||||3856|,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.377C>G||||||
22	24567897	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5974A>G|p.Lys1992Glu|6101/7222|5974/6663|1992/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5737A>G|p.Lys1913Glu|5831/6952|5737/6426|1913/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5974A>G|p.Lys1992Glu|6359/7480|5974/6663|1992/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1249A>G|p.Lys417Glu|1467/2422|1249/1773|417/590||,G|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1A>G|||||3850|,G|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.383A>G||||||
22	24567910	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.5987C>T|p.Pro1996Leu|6114/7222|5987/6663|1996/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5750C>T|p.Pro1917Leu|5844/6952|5750/6426|1917/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.5987C>T|p.Pro1996Leu|6372/7480|5987/6663|1996/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1262C>T|p.Pro421Leu|1480/2422|1262/1773|421/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3837|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.396C>T||||||
22	24567940	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|34/37|c.6017C>T|p.Pro2006Leu|6144/7222|6017/6663|2006/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|33/36|c.5780C>T|p.Pro1927Leu|5874/6952|5780/6426|1927/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|34/37|c.6017C>T|p.Pro2006Leu|6402/7480|6017/6663|2006/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|6/8|c.1292C>T|p.Pro431Leu|1510/2422|1292/1773|431/590||,T|upstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.-1C>T|||||3807|,T|non_coding_exon_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript|3/4|n.426C>T||||||
22	24573537	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|36/37|c.6271C>T|p.Pro2091Ser|6398/7222|6271/6663|2091/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|35/36|c.6034C>T|p.Pro2012Ser|6128/6952|6034/6426|2012/2141||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|36/37|c.6271C>T|p.Pro2091Ser|6656/7480|6271/6663|2091/2220||,T|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|7/8|c.1381C>T|p.Pro461Ser|1599/2422|1381/1773|461/590||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>T|||||3690|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>T|||||4171|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||31|
22	24574054	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.6553G>A|p.Val2185Met|6680/7222|6553/6663|2185/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.6316G>A|p.Val2106Met|6410/6952|6316/6426|2106/2141||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.6553G>A|p.Val2185Met|6938/7480|6553/6663|2185/2220||,A|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.1663G>A|p.Val555Met|1881/2422|1663/1773|555/590||,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262G>A|||||3173|,A|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1G>A|||||4491|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771G>A|||||4688|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532G>A|||||548|
22	24574137	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding|37/37|c.6636C>G|p.Asp2212Glu|6763/7222|6636/6663|2212/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding|36/36|c.6399C>G|p.Asp2133Glu|6493/6952|6399/6426|2133/2141||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding|37/37|c.6636C>G|p.Asp2212Glu|7021/7480|6636/6663|2212/2220||,G|missense_variant|MODERATE|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding|8/8|c.1746C>G|p.Asp582Glu|1964/2422|1746/1773|582/590||,G|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding||c.-262C>G|||||3090|,G|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>G|||||4408|,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000485008|processed_transcript||n.*771C>G|||||4771|,G|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>G|||||631|
22	24577531	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|1/15|c.44C>T|p.Thr15Ile|305/3404|44/2469|15/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|signal_peptide|ENST00000358321|protein_coding|1/15|c.44C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|signal_peptide|ENST00000358321|protein_coding|2/15|c.44C>T||||||,T|upstream_gene_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron||n.-1C>T|||||1014|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding||c.*6790C>T|||||2935|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding||c.*6520C>T|||||2935|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding||c.*7048C>T|||||2935|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding||c.*1991C>T|||||2936|,T|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000459824|retained_intron||n.*532C>T|||||4025|
22	24579503	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|3/15|c.328T>A|p.Ser110Thr|589/3404|328/2469|110/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.328T>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.328T>A||||||,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000263119|protein_coding||c.*6790T>A|||||4907|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000405822|protein_coding||c.*6520T>A|||||4907|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000398319|protein_coding||c.*7048T>A|||||4907|,A|downstream_gene_variant|MODIFIER|CABIN1|ENSG00000099991|transcript|ENST00000337989|protein_coding||c.*1991T>A|||||4908|,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.732T>A||||||
22	24579597	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|3/15|c.422C>T|p.Ala141Val|683/3404|422/2469|141/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.422C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.422C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.826C>T||||||
22	24580157	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.493C>G|p.Arg165Gly|754/3404|493/2469|165/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.493C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.493C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1386C>G||||||
22	24580158	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.494G>A|p.Arg165His|755/3404|494/2469|165/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.494G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.494G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1387G>A||||||
22	24580172	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.508G>A|p.Gly170Ser|769/3404|508/2469|170/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.508G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.508G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1401G>A||||||
22	24580268	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|4/15|c.604A>G|p.Thr202Ala|865/3404|604/2469|202/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.604A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.604A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|2/11|n.1497A>G||||||
22	24580857	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|5/15|c.731G>C|p.Trp244Ser|992/3404|731/2469|244/822||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.731G>C||||||,C|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.731G>C||||||,C|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|3/11|n.1624G>C||||||
22	24581124	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.845G>A|p.Arg282Gln|1106/3404|845/2469|282/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.845G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.845G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1738G>A||||||
22	24581193	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|6/15|c.914A>G|p.Asn305Ser|1175/3404|914/2469|305/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.914A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.914A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|4/11|n.1807A>G||||||
22	24581477	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|7/15|c.1008G>T|p.Glu336Asp|1269/3404|1008/2469|336/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1008G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1008G>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|5/11|n.1901G>T||||||
22	24581634	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1076G>A|p.Arg359Gln|1337/3404|1076/2469|359/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1076G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1076G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.1969G>A||||||
22	24581769	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1211C>G|p.Pro404Arg|1472/3404|1211/2469|404/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1211C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1211C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2104C>G||||||
22	24581831	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1273G>A|p.Asp425Asn|1534/3404|1273/2469|425/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1273G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1273G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2166G>A||||||
22	24581853	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1295G>A|p.Arg432Gln|1556/3404|1295/2469|432/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|7/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|6/15|c.1295G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:AMOP|ENST00000358321|protein_coding|8/15|c.1295G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2188G>A||||||
22	24581865	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|8/15|c.1307A>G|p.Asn436Ser|1568/3404|1307/2469|436/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1307A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1307A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|6/11|n.2200A>G||||||
22	24582041	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1397A>G|p.Asn466Ser|1658/3404|1397/2469|466/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1397A>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1397A>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2290A>G||||||
22	24582080	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1436C>T|p.Thr479Ile|1697/3404|1436/2469|479/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1436C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1436C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2329C>T||||||
22	24582098	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1454C>T|p.Ala485Val|1715/3404|1454/2469|485/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1454C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1454C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2347C>T||||||
22	24582101	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|9/15|c.1457G>A|p.Arg486Gln|1718/3404|1457/2469|486/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1457G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1457G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|7/11|n.2350G>A||||||
22	24582236	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|10/15|c.1495C>T|p.Arg499Cys|1756/3404|1495/2469|499/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1495C>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1495C>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.2388C>T||||||
22	24583193	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1666G>A|p.Gly556Arg|1927/3404|1666/2469|556/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1666G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1666G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3345G>A||||||
22	24583230	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1703G>T|p.Gly568Val|1964/3404|1703/2469|568/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1703G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1703G>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3382G>T||||||
22	24583262	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1735A>T|p.Ser579Cys|1996/3404|1735/2469|579/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1735A>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1735A>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3414A>T||||||
22	24583271	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1744G>A|p.Val582Ile|2005/3404|1744/2469|582/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1744G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1744G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3423G>A||||||
22	24583377	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|11/15|c.1850C>G|p.Pro617Arg|2111/3404|1850/2469|617/822||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1850C>G||||||,G|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1850C>G||||||,G|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3529C>G||||||
22	24583544	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.1897G>A|p.Val633Met|2158/3404|1897/2469|633/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1897G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1897G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3696G>A||||||
22	24583574	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.1927G>A|p.Asp643Asn|2188/3404|1927/2469|643/822||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|11/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|9/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|10/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|8/15|c.1927G>A||||||,A|sequence_feature|LOW|SUSD2|ENSG00000099994|domain:VWFD|ENST00000358321|protein_coding|12/15|c.1927G>A||||||,A|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3726G>A||||||
22	24583786	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SUSD2|ENSG00000099994|transcript|ENST00000358321|protein_coding|12/15|c.2139G>T|p.Gln713His|2400/3404|2139/2469|713/822||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|13/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|14/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|4/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|7/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|11/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|9/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|2/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|6/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|10/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|3/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|5/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|8/15|c.2139G>T||||||,T|sequence_feature|LOW|SUSD2|ENSG00000099994|topological_domain:Extracellular|ENST00000358321|protein_coding|12/15|c.2139G>T||||||,T|non_coding_exon_variant|MODIFIER|SUSD2|ENSG00000099994|transcript|ENST00000463101|retained_intron|8/11|n.3938G>T||||||
22	24616060	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|12/12|c.1642C>T|p.Arg548Cys|1976/2408|1642/1764|548/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|11/11|c.1543C>T|p.Arg515Cys|1896/2334|1543/1665|515/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|12/12|c.1639C>T|p.Arg547Cys|2056/2494|1639/1761|547/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|6/6|c.538C>T|p.Arg180Cys|540/972|538/660|180/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|10/10|c.1411C>T|p.Arg471Cys|1768/2120|1411/1533|471/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1639C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1639C>T||||||
22	24621293	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|10/12|c.1426A>G|p.Ile476Val|1760/2408|1426/1764|476/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|9/11|c.1327A>G|p.Ile443Val|1680/2334|1327/1665|443/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|10/12|c.1423A>G|p.Ile475Val|1840/2494|1423/1761|475/586||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|3/6|c.229A>G|p.Ile77Val|231/972|229/660|77/219||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|8/10|c.1195A>G|p.Ile399Val|1552/2120|1195/1533|399/510||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1423A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1423A>G||||||
22	24621538	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1312G>A|p.Gly438Ser|1646/2408|1312/1764|438/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1216G>A|p.Gly406Ser|1569/2334|1216/1665|406/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1312G>A|p.Gly438Ser|1729/2494|1312/1761|438/586||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.118G>A|p.Gly40Ser|120/972|118/660|40/219||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1081G>A|p.Gly361Ser|1438/2120|1081/1533|361/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1312G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1312G>A||||||
22	24621540	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1310G>A|p.Arg437Gln|1644/2408|1310/1764|437/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1214G>A|p.Arg405Gln|1567/2334|1214/1665|405/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1310G>A|p.Arg437Gln|1727/2494|1310/1761|437/586||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.116G>A|p.Arg39Gln|118/972|116/660|39/219||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1079G>A|p.Arg360Gln|1436/2120|1079/1533|360/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1310G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1310G>A||||||
22	24621541	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1309C>T|p.Arg437Trp|1643/2408|1309/1764|437/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1213C>T|p.Arg405Trp|1566/2334|1213/1665|405/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1309C>T|p.Arg437Trp|1726/2494|1309/1761|437/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.115C>T|p.Arg39Trp|117/972|115/660|39/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1078C>T|p.Arg360Trp|1435/2120|1078/1533|360/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1309C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1309C>T||||||
22	24621543	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1307C>T|p.Pro436Leu|1641/2408|1307/1764|436/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1211C>T|p.Pro404Leu|1564/2334|1211/1665|404/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1307C>T|p.Pro436Leu|1724/2494|1307/1761|436/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.113C>T|p.Pro38Leu|115/972|113/660|38/219||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1076C>T|p.Pro359Leu|1433/2120|1076/1533|359/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1307C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1307C>T||||||
22	24621607	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|9/12|c.1243G>C|p.Val415Leu|1577/2408|1243/1764|415/587||,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|8/11|c.1147G>C|p.Val383Leu|1500/2334|1147/1665|383/554||,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|9/12|c.1243G>C|p.Val415Leu|1660/2494|1243/1761|415/586||,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding|2/6|c.49G>C|p.Val17Leu|51/972|49/660|17/219||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|7/10|c.1012G>C|p.Val338Leu|1369/2120|1012/1533|338/510||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.1243G>C||||||,G|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.1243G>C||||||
22	24622648	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|7/12|c.989A>G|p.Lys330Arg|1323/2408|989/1764|330/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|6/11|c.893A>G|p.Lys298Arg|1246/2334|893/1665|298/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|7/12|c.989A>G|p.Lys330Arg|1406/2494|989/1761|330/586||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|5/10|c.758A>G|p.Lys253Arg|1115/2120|758/1533|253/510||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.989A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.989A>G||||||,C|upstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000425408|protein_coding||c.-3A>G|||||568|WARNING_TRANSCRIPT_NO_START_CODON
22	24628872	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.515G>A|p.Gly172Glu|849/2408|515/1764|172/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.419G>A|p.Gly140Glu|772/2334|419/1665|140/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.515G>A|p.Gly172Glu|932/2494|515/1761|172/586||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.288G>A|p.Arg96Arg|645/2120|288/1533|96/510||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.515G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.515G>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576G>A|||||69|WARNING_TRANSCRIPT_NO_STOP_CODON
22	24628895	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.265G>A|p.Ala89Thr|622/2120|265/1533|89/510||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.492G>A|p.Gln164Gln|826/2408|492/1764|164/587||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.396G>A|p.Gln132Gln|749/2334|396/1665|132/554||,T|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.492G>A|p.Gln164Gln|909/2494|492/1761|164/586||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.492G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.492G>A||||||,T|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576G>A|||||46|WARNING_TRANSCRIPT_NO_STOP_CODON
22	24628908	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.479C>T|p.Ala160Val|813/2408|479/1764|160/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.383C>T|p.Ala128Val|736/2334|383/1665|128/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.479C>T|p.Ala160Val|896/2494|479/1761|160/586||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.252C>T|p.Gly84Gly|609/2120|252/1533|84/510||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.479C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.479C>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>T|||||33|WARNING_TRANSCRIPT_NO_STOP_CODON
22	24628928	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|2/10|c.232C>T|p.Pro78Ser|589/2120|232/1533|78/510||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|4/12|c.459C>T|p.Arg153Arg|793/2408|459/1764|153/587||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|3/11|c.363C>T|p.Arg121Arg|716/2334|363/1665|121/554||,A|synonymous_variant|LOW|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|4/12|c.459C>T|p.Arg153Arg|876/2494|459/1761|153/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.459C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.459C>T||||||,A|downstream_gene_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding||c.*576C>T|||||13|WARNING_TRANSCRIPT_NO_STOP_CODON
22	24629478	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|3/12|c.388C>T|p.Pro130Ser|722/2408|388/1764|130/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|3/12|c.388C>T|p.Pro130Ser|805/2494|388/1761|130/586||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.388C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.388C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/10|c.304+364C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-492C>T||||||,A|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-492C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	24629905	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.241G>A|p.Val81Ile|575/2408|241/1764|81/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.241G>A|p.Val81Ile|594/2334|241/1665|81/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.241G>A|p.Val81Ile|658/2494|241/1761|81/586||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.241G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.241G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-919G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-919G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	24629908	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.238G>A|p.Val80Ile|572/2408|238/1764|80/587||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.238G>A|p.Val80Ile|591/2334|238/1665|80/554||,T|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.238G>A|p.Val80Ile|655/2494|238/1761|80/586||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.238G>A||||||,T|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.238G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-922G>A||||||,T|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-922G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	24629959	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|2/12|c.187C>G|p.Gln63Glu|521/2408|187/1764|63/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|2/11|c.187C>G|p.Gln63Glu|540/2334|187/1665|63/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|2/12|c.187C>G|p.Gln63Glu|604/2494|187/1761|63/586||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|4/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|6/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|12/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|1/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|2/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|7/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|8/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|9/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|11/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|5/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|3/12|c.187C>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Extracellular|ENST00000327365|protein_coding|10/12|c.187C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/9|c.174-973C>G||||||,C|intron_variant|MODIFIER|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/1|c.174-973C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	24640666	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|1/12|c.28A>G|p.Ser10Gly|362/2408|28/1764|10/587||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|1/11|c.28A>G|p.Ser10Gly|381/2334|28/1665|10/554||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|1/12|c.28A>G|p.Ser10Gly|445/2494|28/1761|10/586||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/10|c.28A>G|p.Ser10Gly|385/2120|28/1533|10/510||,C|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/2|c.28A>G|p.Ser10Gly|385/576|28/219|10/72||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|GGT5|ENSG00000099998|transmembrane_region:Transmembrane_region|ENST00000398292|protein_coding|1/12|c.28A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|transmembrane_region:Transmembrane_region|ENST00000263112|protein_coding|1/11|c.28A>G||||||,C|sequence_feature|LOW|GGT5|ENSG00000099998|transmembrane_region:Transmembrane_region|ENST00000327365|protein_coding|1/12|c.28A>G||||||,C|downstream_gene_variant|MODIFIER|AP000354.4|ENSG00000230712|transcript|ENST00000402176|unprocessed_pseudogene||n.*664A>G|||||3376|
22	24640687	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000398292|protein_coding|1/12|c.7C>T|p.Arg3Trp|341/2408|7/1764|3/587||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000263112|protein_coding|1/11|c.7C>T|p.Arg3Trp|360/2334|7/1665|3/554||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000327365|protein_coding|1/12|c.7C>T|p.Arg3Trp|424/2494|7/1761|3/586||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000418439|protein_coding|1/10|c.7C>T|p.Arg3Trp|364/2120|7/1533|3/510||,A|missense_variant|MODERATE|GGT5|ENSG00000099998|transcript|ENST00000424217|protein_coding|1/2|c.7C>T|p.Arg3Trp|364/576|7/219|3/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000398292|protein_coding|1/12|c.7C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000263112|protein_coding|1/11|c.7C>T||||||,A|sequence_feature|LOW|GGT5|ENSG00000099998|topological_domain:Cytoplasmic|ENST00000327365|protein_coding|1/12|c.7C>T||||||,A|downstream_gene_variant|MODIFIER|AP000354.4|ENSG00000230712|transcript|ENST00000402176|unprocessed_pseudogene||n.*664C>T|||||3355|
22	24709420	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|4/17|c.293C>T|p.Ser98Phe|578/6756|293/3354|98/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|3/16|c.293C>T|p.Ser98Phe|496/6673|293/3354|98/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|3/7|c.293C>T|p.Ser98Phe|492/2565|293/2366|98/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|3/15|c.293C>T|p.Ser98Phe|431/3525|293/3237|98/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|2/3|c.110C>T|p.Ser37Phe|197/612|110/525|37/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|4/20|n.293C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|3/5|n.431C>T||||||
22	24717411	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.463C>T|p.Arg155Cys|748/6756|463/3354|155/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.463C>T|p.Arg155Cys|666/6673|463/3354|155/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.463C>T|p.Arg155Cys|662/2565|463/2366|155/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.463C>T|p.Arg155Cys|601/3525|463/3237|155/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.280C>T|p.Arg94Cys|367/612|280/525|94/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+120C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.463C>T||||||
22	24717444	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.496A>G|p.Met166Val|781/6756|496/3354|166/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.496A>G|p.Met166Val|699/6673|496/3354|166/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.496A>G|p.Met166Val|695/2565|496/2366|166/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.496A>G|p.Met166Val|634/3525|496/3237|166/1078||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.313A>G|p.Met105Val|400/612|313/525|105/174||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+153A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.496A>G||||||
22	24717510	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.562C>T|p.Leu188Phe|847/6756|562/3354|188/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.562C>T|p.Leu188Phe|765/6673|562/3354|188/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.562C>T|p.Leu188Phe|761/2565|562/2366|188/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.562C>T|p.Leu188Phe|700/3525|562/3237|188/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.379C>T|p.Leu127Phe|466/612|379/525|127/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.562C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.562C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+219C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.562C>T||||||
22	24717517	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.569C>T|p.Thr190Met|854/6756|569/3354|190/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.569C>T|p.Thr190Met|772/6673|569/3354|190/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.569C>T|p.Thr190Met|768/2565|569/2366|190/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.569C>T|p.Thr190Met|707/3525|569/3237|190/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.386C>T|p.Thr129Met|473/612|386/525|129/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.569C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.569C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+226C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.569C>T||||||
22	24717548	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.600A>T|p.Leu200Phe|885/6756|600/3354|200/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.600A>T|p.Leu200Phe|803/6673|600/3354|200/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.600A>T|p.Leu200Phe|799/2565|600/2366|200/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.600A>T|p.Leu200Phe|738/3525|600/3237|200/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.417A>T|p.Leu139Phe|504/612|417/525|139/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.600A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.600A>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+257A>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.600A>T||||||
22	24717602	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.654T>A|p.Asp218Glu|939/6756|654/3354|218/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.654T>A|p.Asp218Glu|857/6673|654/3354|218/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.654T>A|p.Asp218Glu|853/2565|654/2366|218/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.654T>A|p.Asp218Glu|792/3525|654/3237|218/1078||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.471T>A|p.Asp157Glu|558/612|471/525|157/174||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.654T>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.654T>A||||||,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+311T>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.654T>A||||||
22	24717637	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.689C>T|p.Thr230Ile|974/6756|689/3354|230/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.689C>T|p.Thr230Ile|892/6673|689/3354|230/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.689C>T|p.Thr230Ile|888/2565|689/2366|230/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.689C>T|p.Thr230Ile|827/3525|689/3237|230/1078||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.506C>T|p.Thr169Ile|593/612|506/525|169/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.689C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.689C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+346C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.689C>T||||||
22	24717655	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.707C>T|p.Pro236Leu|992/6756|707/3354|236/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.707C>T|p.Pro236Leu|910/6673|707/3354|236/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.707C>T|p.Pro236Leu|906/2565|707/2366|236/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.707C>T|p.Pro236Leu|845/3525|707/3237|236/1078||,T|missense_variant&splice_region_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding|3/3|c.524C>T|p.Pro175Leu|611/612|524/525|175/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.707C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.707C>T||||||,T|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+364C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.707C>T||||||
22	24717820	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.872A>G|p.Tyr291Cys|1157/6756|872/3354|291/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.872A>G|p.Tyr291Cys|1075/6673|872/3354|291/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.872A>G|p.Tyr291Cys|1071/2565|872/2366|291/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.872A>G|p.Tyr291Cys|1010/3525|872/3237|291/1078||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||164|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+529A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.872A>G||||||
22	24717843	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.895A>G|p.Thr299Ala|1180/6756|895/3354|299/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.895A>G|p.Thr299Ala|1098/6673|895/3354|299/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.895A>G|p.Thr299Ala|1094/2565|895/2366|299/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.895A>G|p.Thr299Ala|1033/3525|895/3237|299/1078||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||187|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+552A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.895A>G||||||
22	24717850	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.902A>G|p.Asp301Gly|1187/6756|902/3354|301/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.902A>G|p.Asp301Gly|1105/6673|902/3354|301/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.902A>G|p.Asp301Gly|1101/2565|902/2366|301/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.902A>G|p.Asp301Gly|1040/3525|902/3237|301/1078||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||194|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+559A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.902A>G||||||
22	24717974	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1026G>A|p.Met342Ile|1311/6756|1026/3354|342/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1026G>A|p.Met342Ile|1229/6673|1026/3354|342/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1026G>A|p.Met342Ile|1225/2565|1026/2366|342/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1026G>A|p.Met342Ile|1164/3525|1026/3237|342/1078||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||318|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+683G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1026G>A||||||
22	24718096	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1148G>C|p.Gly383Ala|1433/6756|1148/3354|383/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1148G>C|p.Gly383Ala|1351/6673|1148/3354|383/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1148G>C|p.Gly383Ala|1347/2565|1148/2366|383/787||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1148G>C|p.Gly383Ala|1286/3525|1148/3237|383/1078||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>C|||||440|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+805G>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1148G>C||||||
22	24718288	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1340A>G|p.Glu447Gly|1625/6756|1340/3354|447/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1340A>G|p.Glu447Gly|1543/6673|1340/3354|447/1117||,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1340A>G|p.Glu447Gly|1539/2565|1340/2366|447/787||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1340A>G|p.Glu447Gly|1478/3525|1340/3237|447/1078||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1340A>G||||||,G|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1340A>G||||||,G|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>G|||||632|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+997A>G||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1340A>G||||||
22	24718408	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1460G>A|p.Arg487His|1745/6756|1460/3354|487/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1460G>A|p.Arg487His|1663/6673|1460/3354|487/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1460G>A|p.Arg487His|1659/2565|1460/2366|487/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1460G>A|p.Arg487His|1598/3525|1460/3237|487/1078||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1460G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1460G>A||||||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||752|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1117G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1460G>A||||||
22	24718677	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1729A>C|p.Asn577His|2014/6756|1729/3354|577/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1729A>C|p.Asn577His|1932/6673|1729/3354|577/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1729A>C|p.Asn577His|1928/2565|1729/2366|577/787||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1729A>C|p.Asn577His|1867/3525|1729/3237|577/1078||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1729A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1729A>C||||||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>C|||||1021|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1386A>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1729A>C||||||
22	24718681	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|5/17|c.1733G>A|p.Arg578His|2018/6756|1733/3354|578/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|4/16|c.1733G>A|p.Arg578His|1936/6673|1733/3354|578/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|4/7|c.1733G>A|p.Arg578His|1932/2565|1733/2366|578/787||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|4/15|c.1733G>A|p.Arg578His|1871/3525|1733/3237|578/1078||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1733G>A||||||,A|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1733G>A||||||,A|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612G>A|||||1025|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|4/4|n.481+1390G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|5/20|n.1733G>A||||||
22	24720219	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|6/17|c.1970A>C|p.Glu657Ala|2255/6756|1970/3354|657/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|5/16|c.1970A>C|p.Glu657Ala|2173/6673|1970/3354|657/1117||,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|5/7|c.1970A>C|p.Glu657Ala|2169/2565|1970/2366|657/787||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|5/15|c.1970A>C|p.Glu657Ala|2108/3525|1970/3237|657/1078||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.1970A>C||||||,C|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.1970A>C||||||,C|downstream_gene_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000440893|protein_coding||c.*612A>C|||||2563|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|6/20|n.1970A>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000416735|processed_transcript|5/5|n.513A>C||||||
22	24726329	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|8/17|c.2326C>T|p.Arg776Cys|2611/6756|2326/3354|776/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|7/16|c.2326C>T|p.Arg776Cys|2529/6673|2326/3354|776/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000421374|protein_coding|7/7|c.2326C>T|p.Arg776Cys|2525/2565|2326/2366|776/787||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|7/15|c.2326C>T|p.Arg776Cys|2464/3525|2326/3237|776/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|4/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|5/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|6/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|8/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000437398|protein_coding|7/16|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|4/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|5/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|6/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|8/15|c.2326C>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|coiled-coil_region|ENST00000541492|protein_coding|7/15|c.2326C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|8/20|n.2326C>T||||||
22	24743090	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|11/17|c.2689C>T|p.Pro897Ser|2974/6756|2689/3354|897/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|10/16|c.2689C>T|p.Pro897Ser|2892/6673|2689/3354|897/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|10/15|c.2689C>T|p.Pro897Ser|2827/3525|2689/3237|897/1078||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/20|n.*75C>T|||||3557|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|12/20|n.*75C>T||||||
22	24761467	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/17|c.2851G>A|p.Val951Met|3136/6756|2851/3354|951/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/16|c.2851G>A|p.Val951Met|3054/6673|2851/3354|951/1117||,A|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/15|c.2851G>A|p.Val951Met|2989/3525|2851/3237|951/1078||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*237G>A|||||21934|,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*237G>A||||||
22	24761498	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|13/17|c.2882C>T|p.Ala961Val|3167/6756|2882/3354|961/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|12/16|c.2882C>T|p.Ala961Val|3085/6673|2882/3354|961/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|12/15|c.2882C>T|p.Ala961Val|3020/3525|2882/3237|961/1078||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*268C>T|||||21965|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|14/20|n.*268C>T||||||
22	24808628	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000314328|protein_coding|16/17|c.3217A>T|p.Met1073Leu|3502/6756|3217/3354|1073/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000437398|protein_coding|15/16|c.3217A>T|p.Met1073Leu|3420/6673|3217/3354|1073/1117||,T|missense_variant|MODERATE|SPECC1L|ENSG00000100014|transcript|ENST00000541492|protein_coding|14/15|c.3100A>T|p.Met1034Leu|3238/3525|3100/3237|1034/1078||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|15/16|c.3217A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|16/16|c.3217A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|13/16|c.3217A>T||||||,T|sequence_feature|LOW|SPECC1L|ENSG00000100014|domain:CH|ENST00000437398|protein_coding|14/16|c.3217A>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|17/20|n.*603A>T|||||69095|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|17/20|n.*603A>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L|ENSG00000100014|transcript|ENST00000472799|retained_intron|1/2|n.501A>T||||||
22	24829383	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/3|c.11T>C|p.Met4Thr|470/2569|11/1239|4/412||,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000424232|protein_coding|2/2|c.11T>C|p.Met4Thr|317/569|11/263|4/86||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000486108|protein_coding|2/2|c.11T>C|p.Met4Thr|612/926|11/325|4/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000464977|protein_coding|3/3|c.11T>C|p.Met4Thr|550/558|11/19|4/5||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/3|c.11T>C|p.Met4Thr|433/1517|11/1095|4/364||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000496258|protein_coding|2/2|c.11T>C|p.Met4Thr|450/689|11/250|4/82||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000472248|protein_coding|3/3|c.11T>C|p.Met4Thr|641/718|11/88|4/28||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000436735|protein_coding|2/2|c.11T>C|p.Met4Thr|487/669|11/193|4/63||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000439591|protein_coding|2/2|c.11T>C|p.Met4Thr|341/560|11/230|4/75||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|2/3|c.11T>C||||||,C|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.11T>C||||||,C|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1146T>C|||||89850|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.*549T>C|||||223|,C|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000486351|processed_transcript||n.*578T>C|||||207|,C|downstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.*2027A>G|||||4861|,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.575-981A>G||||||,C|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.100+5689T>C||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.560-981A>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1146T>C||||||
22	24829521	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|2/3|c.149C>T|p.Ala50Val|608/2569|149/1239|50/412||,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000424232|protein_coding|2/2|c.149C>T|p.Ala50Val|455/569|149/263|50/86||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000486108|protein_coding|2/2|c.149C>T|p.Ala50Val|750/926|149/325|50/107||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|2/3|c.149C>T|p.Ala50Val|571/1517|149/1095|50/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000496258|protein_coding|2/2|c.149C>T|p.Ala50Val|588/689|149/250|50/82||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000436735|protein_coding|2/2|c.149C>T|p.Ala50Val|625/669|149/193|50/63||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000439591|protein_coding|2/2|c.149C>T|p.Ala50Val|479/560|149/230|50/75||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|2/3|c.149C>T||||||,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|transmembrane_region:Transmembrane_region|ENST00000337539|protein_coding|2/3|c.149C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1284C>T|||||89988|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000467385|processed_transcript||n.*549C>T|||||361|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000486351|processed_transcript||n.*578C>T|||||345|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000464977|protein_coding||c.*558C>T|||||130|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000472248|protein_coding||c.*718C>T|||||61|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.*2027G>A|||||4723|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.575-1119G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|1/1|n.100+5827C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.560-1119G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|19/20|n.*1284C>T||||||
22	24836657	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.439G>A|p.Gly147Ser|898/2569|439/1239|147/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.439G>A|p.Gly147Ser|861/1517|439/1095|147/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|2/3|c.439G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|disulfide_bond|ENST00000337539|protein_coding|3/3|c.439G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Extracellular|ENST00000337539|protein_coding|3/3|c.439G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.439G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1574G>A|||||97124|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+1303C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+1303C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1271-1122C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1574G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.207G>A||||||
22	24837041	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.823G>A|p.Val275Ile|1282/2569|823/1239|275/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.823G>A|p.Val275Ile|1245/1517|823/1095|275/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|transmembrane_region:Transmembrane_region|ENST00000337539|protein_coding|3/3|c.823G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.823G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1958G>A|||||97508|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+919C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+919C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+919C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*1958G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.591G>A||||||
22	24837117	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.899G>A|p.Arg300His|1358/2569|899/1239|300/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.899G>A|p.Arg300His|1321/1517|899/1095|300/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.899G>A||||||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|helix|ENST00000337539|protein_coding|3/3|c.899G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2034G>A|||||97584|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+843C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+843C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+843C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2034G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.667G>A||||||
22	24837137	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.919G>A|p.Val307Ile|1378/2569|919/1239|307/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.919G>A|p.Val307Ile|1341/1517|919/1095|307/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.919G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2054G>A|||||97604|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+823C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+823C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+823C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2054G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript|2/2|n.687G>A||||||
22	24837236	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1018G>A|p.Gly340Ser|1477/2569|1018/1239|340/412||,A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.1018G>A|p.Gly340Ser|1440/1517|1018/1095|340/364||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1018G>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2153G>A|||||97703|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691G>A|||||95|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+724C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+724C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+724C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2153G>A||||||
22	24837243	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1025C>T|p.Pro342Leu|1484/2569|1025/1239|342/412||,T|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding|3/3|c.1025C>T|p.Pro342Leu|1447/1517|1025/1095|342/364||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1025C>T||||||,T|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2160C>T|||||97710|,T|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691C>T|||||102|,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+717G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+717G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+717G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2160C>T||||||
22	24837424	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ADORA2A|ENSG00000128271|transcript|ENST00000337539|protein_coding|3/3|c.1206C>A|p.Asp402Glu|1665/2569|1206/1239|402/412||,A|sequence_feature|LOW|ADORA2A|ENSG00000128271|topological_domain:Cytoplasmic|ENST00000337539|protein_coding|3/3|c.1206C>A||||||,A|3_prime_UTR_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2341C>A|||||97891|,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000444262|protein_coding||c.*1517C>A|||||111|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ADORA2A|ENSG00000128271|transcript|ENST00000496497|processed_transcript||n.*691C>A|||||283|,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense|4/6|n.574+536G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense|4/6|n.559+536G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense|6/7|n.1270+536G>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|ENSG00000258555|transcript|ENST00000358654|nonsense_mediated_decay|20/20|n.*2341C>A||||||
22	24891453	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|1/10|c.82G>A|p.Val28Ile|426/2290|82/1155|28/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/10|c.50G>A|p.Arg17His|1643/3418|50/951|17/316||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|1/4|c.82G>A|p.Val28Ile|244/1928|82/561|28/186||,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000543438|antisense||n.-1C>T|||||670|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000326341|antisense||n.-1C>T|||||685|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000427813|antisense||n.-1C>T|||||411|,A|upstream_gene_variant|MODIFIER|ADORA2A-AS1|ENSG00000178803|transcript|ENST00000412790|antisense||n.-1C>T|||||690|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/9|n.82G>A||||||
22	24896158	.	A	T	.	.	ANN=T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/10|c.188A>T|p.Glu63Val|532/2290|188/1155|63/384||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/4|c.188A>T|p.Glu63Val|350/1928|188/561|63/186||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-1936A>T||||||,T|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-1936A>T||||||
22	24896179	.	G	C	.	.	ANN=C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/10|c.209G>C|p.Arg70Pro|553/2290|209/1155|70/384||,C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/4|c.209G>C|p.Arg70Pro|371/1928|209/561|70/186||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-1915G>C||||||,C|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-1915G>C||||||
22	24896224	.	C	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|2/10|c.254C>A|p.Ala85Glu|598/2290|254/1155|85/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|2/4|c.254C>A|p.Ala85Glu|416/1928|254/561|85/186||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.254C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.254C>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|2/9|c.73-1870C>A||||||,A|intron_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|1/8|n.105-1870C>A||||||
22	24898175	.	G	T	.	.	ANN=T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|3/10|c.358G>T|p.Ala120Ser|702/2290|358/1155|120/384||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|3/10|c.154G>T|p.Ala52Ser|1747/3418|154/951|52/316||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000382760|protein_coding|3/4|c.358G>T|p.Ala120Ser|520/1928|358/561|120/186||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.358G>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.358G>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|2/9|n.*57G>T|||||57|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|2/9|n.*57G>T||||||
22	24906723	.	C	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|4/10|c.371C>A|p.Pro124His|715/2290|371/1155|124/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|4/10|c.167C>A|p.Pro56His|1760/3418|167/951|56/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.371C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.371C>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|3/9|n.*70C>A|||||8605|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|3/9|n.*70C>A||||||
22	24909346	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|5/10|c.514G>A|p.Glu172Lys|858/2290|514/1155|172/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|5/10|c.310G>A|p.Glu104Lys|1903/3418|310/951|104/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.514G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.514G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/9|n.*213G>A|||||11228|,A|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1G>A|||||3130|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|4/9|n.*213G>A||||||
22	24911233	.	C	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.686C>A|p.Ala229Glu|1030/2290|686/1155|229/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.482C>A|p.Ala161Glu|2075/3418|482/951|161/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.686C>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.686C>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*385C>A|||||13115|,A|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1C>A|||||1243|,A|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1C>A|||||4536|,A|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1C>A|||||4909|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*385C>A||||||
22	24911253	.	C	T	.	.	ANN=T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|6/10|c.706C>T|p.Arg236Trp|1050/2290|706/1155|236/384||,T|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|6/10|c.502C>T|p.Arg168Trp|2095/3418|502/951|168/316||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.706C>T||||||,T|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.706C>T||||||,T|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*405C>T|||||13135|,T|upstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.-1C>T|||||1223|,T|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript||n.-1C>T|||||4516|,T|upstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.-1C>T|||||4889|,T|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|5/9|n.*405C>T||||||
22	24916420	.	T	C	.	.	ANN=C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.857T>C|p.Ile286Thr|1201/2290|857/1155|286/384||,C|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.653T>C|p.Ile218Thr|2246/3418|653/951|218/316||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.857T>C||||||,C|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.857T>C||||||,C|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*556T>C|||||18302|,C|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480T>C|||||2066|,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*556T>C||||||,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.196T>C||||||,C|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.279T>C||||||
22	24916426	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|7/10|c.863G>A|p.Arg288Gln|1207/2290|863/1155|288/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|7/10|c.659G>A|p.Arg220Gln|2252/3418|659/951|220/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.863G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.863G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*562G>A|||||18308|,A|downstream_gene_variant|MODIFIER|AP000355.2|ENSG00000228923|transcript|ENST00000432032|antisense||n.*480G>A|||||2072|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|6/9|n.*562G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|2/4|n.202G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|1/3|n.285G>A||||||
22	24919590	.	A	G	.	.	ANN=G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.920A>G|p.His307Arg|1264/2290|920/1155|307/384||,G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.716A>G|p.His239Arg|2309/3418|716/951|239/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.920A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|metal_ion-binding_site:Zinc|ENST00000326010|protein_coding|9/10|c.920A>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*619A>G|||||21472|,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*619A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.216A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.342A>G||||||
22	24919611	.	A	G	.	.	ANN=G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.941A>G|p.Tyr314Cys|1285/2290|941/1155|314/384||,G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.737A>G|p.Tyr246Cys|2330/3418|737/951|246/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.941A>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.941A>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*640A>G|||||21493|,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*640A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.237A>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.363A>G||||||
22	24919647	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.977G>A|p.Arg326Gln|1321/2290|977/1155|326/384||,A|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.773G>A|p.Arg258Gln|2366/3418|773/951|258/316||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.977G>A||||||,A|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.977G>A||||||,A|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*676G>A|||||21529|,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*676G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.273G>A||||||,A|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron|3/3|n.399G>A||||||
22	24919675	.	T	G	.	.	ANN=G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000326010|protein_coding|9/10|c.1005T>G|p.Asp335Glu|1349/2290|1005/1155|335/384||,G|missense_variant|MODERATE|UPB1|ENSG00000100024|transcript|ENST00000413389|protein_coding|9/10|c.801T>G|p.Asp267Glu|2394/3418|801/951|267/316||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|2/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|4/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|9/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|6/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|3/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|5/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|8/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|10/10|c.1005T>G||||||,G|sequence_feature|LOW|UPB1|ENSG00000100024|domain:CN_hydrolase|ENST00000326010|protein_coding|7/10|c.1005T>G||||||,G|3_prime_UTR_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*704T>G|||||21557|,G|downstream_gene_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000486043|retained_intron||n.*420T>G|||||7|,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000415388|nonsense_mediated_decay|8/9|n.*704T>G||||||,G|non_coding_exon_variant|MODIFIER|UPB1|ENSG00000100024|transcript|ENST00000498140|processed_transcript|3/4|n.301T>G||||||
22	24939873	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.733G>A|p.Val245Met|843/1606|733/888|245/295||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.565G>A|p.Val189Met|756/3482|565/723|189/240||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.565G>A|p.Val189Met|890/3613|565/720|189/239||,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516G>A|||||140|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773G>A|||||3012|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619G>A|||||3811|,T|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346G>A|||||3868|,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-2932G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-808G>A||||||,T|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-805G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.565G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.179G>A||||||
22	24939978	.	C	A	.	.	ANN=A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|5/6|c.628G>T|p.Val210Leu|738/1606|628/888|210/295||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|5/6|c.460G>T|p.Val154Leu|651/3482|460/723|154/240||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|5/6|c.460G>T|p.Val154Leu|785/3613|460/720|154/239||,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.*516G>T|||||35|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding||c.*773G>T|||||2907|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619G>T|||||3706|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346G>T|||||3763|,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.126-3037G>T||||||,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/4|c.387-913G>T||||||,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/4|c.387-910G>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|5/7|n.460G>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript|1/2|n.74G>T||||||
22	24942937	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|4/6|c.499C>T|p.Arg167Trp|609/1606|499/888|167/295||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|4/6|c.331C>T|p.Arg111Trp|522/3482|331/723|111/240||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|4/6|c.331C>T|p.Arg111Trp|656/3613|331/720|111/239||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|4/5|c.331C>T|p.Arg111Trp|429/895|331/411|111/136||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|4/5|c.331C>T|p.Arg111Trp|465/865|331/414|111/137||,A|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|5/5|c.331C>T|p.Arg111Trp|721/773|331/383|111/126||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1C>T|||||2886|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron||n.*619C>T|||||747|,A|downstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.*346C>T|||||804|,A|intron_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/1|n.125+939C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|4/7|n.331C>T||||||,A|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron|1/2|n.422C>T||||||
22	24943979	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|3/6|c.359G>A|p.Arg120Lys|469/1606|359/888|120/295||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|3/6|c.191G>A|p.Arg64Lys|382/3482|191/723|64/240||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|3/6|c.191G>A|p.Arg64Lys|516/3613|191/720|64/239||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|3/5|c.191G>A|p.Arg64Lys|289/895|191/411|64/136||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|3/5|c.191G>A|p.Arg64Lys|325/865|191/414|64/137||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|4/5|c.191G>A|p.Arg64Lys|581/773|191/383|64/126||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1G>A|||||3928|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1G>A|||||621|,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|3/7|n.191G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript|1/2|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|3/3|n.324G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|2/2|n.108G>A||||||
22	24944927	.	T	G	.	.	ANN=G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|2/6|c.254A>C|p.Tyr85Ser|364/1606|254/888|85/295||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|2/6|c.86A>C|p.Tyr29Ser|277/3482|86/723|29/240||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|2/6|c.86A>C|p.Tyr29Ser|411/3613|86/720|29/239||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|2/5|c.86A>C|p.Tyr29Ser|184/895|86/411|29/136||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|2/5|c.86A>C|p.Tyr29Ser|220/865|86/414|29/137||,G|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|3/5|c.86A>C|p.Tyr29Ser|476/773|86/383|29/126||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript||n.-1A>C|||||927|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1A>C|||||4876|,G|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1A>C|||||1569|,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|2/7|n.86A>C||||||,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|2/3|n.219A>C||||||,G|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript|1/2|n.3A>C||||||
22	24944943	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000404664|protein_coding|2/6|c.238G>A|p.Val80Ile|348/1606|238/888|80/295||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407471|protein_coding|2/6|c.70G>A|p.Val24Ile|261/3482|70/723|24/240||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000435822|protein_coding|2/6|c.70G>A|p.Val24Ile|395/3613|70/720|24/239||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000447813|protein_coding|2/5|c.70G>A|p.Val24Ile|168/895|70/411|24/136||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000402766|protein_coding|2/5|c.70G>A|p.Val24Ile|204/865|70/414|24/137||,T|missense_variant|MODERATE|GUCD1|ENSG00000138867|transcript|ENST00000407973|protein_coding|3/5|c.70G>A|p.Val24Ile|460/773|70/383|24/126||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490922|processed_transcript||n.-1G>A|||||943|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000493099|processed_transcript||n.-1G>A|||||4892|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000480272|retained_intron||n.-1G>A|||||1585|,T|upstream_gene_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000490810|processed_transcript||n.-1G>A|||||14|,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000398245|nonsense_mediated_decay|2/7|n.70G>A||||||,T|non_coding_exon_variant|MODIFIER|GUCD1|ENSG00000138867|transcript|ENST00000468170|retained_intron|2/3|n.203G>A||||||
22	24981880	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.922G>A|p.Glu308Lys|946/1238|922/948|308/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1182G>A|||||3333|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*904G>A|||||6463|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3860|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2770|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3253|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3494|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2104C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2104C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2104C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1182G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2666G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*904G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.2026G>A||||||
22	24981958	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.844C>A|p.Leu282Ile|868/1238|844/948|282/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1104C>A|||||3255|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*826C>A|||||6385|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>T|||||3938|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>A|||||2692|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>A|||||3175|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>A|||||3416|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2182G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2182G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2182G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1104C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2588C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*826C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1948C>A||||||
22	24981993	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.809G>A|p.Arg270His|833/1238|809/948|270/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1069G>A|||||3220|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*791G>A|||||6350|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3973|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2657|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3140|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3381|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2217C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2217C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2217C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1069G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2553G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*791G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1913G>A||||||
22	24982011	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.791G>A|p.Arg264His|815/1238|791/948|264/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1051G>A|||||3202|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*773G>A|||||6332|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||3991|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2639|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||3122|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3363|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2235C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2235C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2235C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*1051G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2535G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*773G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1895G>A||||||
22	24982103	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.699G>C|p.Lys233Asn|723/1238|699/948|233/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*959G>C|||||3110|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*681G>C|||||6240|,G|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>G|||||4083|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>C|||||2547|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>C|||||3030|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>C|||||3271|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2327C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2327C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2327C>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*959G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2443G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*681G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1803G>C||||||
22	24982126	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.676C>T|p.Arg226Cys|700/1238|676/948|226/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*936C>T|||||3087|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*658C>T|||||6217|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4106|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2524|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||3007|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3248|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2350G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2350G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2350G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*936C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2420C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*658C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1780C>T||||||
22	24982137	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.665G>A|p.Arg222Gln|689/1238|665/948|222/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*925G>A|||||3076|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*647G>A|||||6206|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446C>T|||||4117|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>A|||||2513|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>A|||||2996|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>A|||||3237|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2361C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2361C>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2361C>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*925G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2409G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*647G>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1769G>A||||||
22	24982233	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.569C>T|p.Thr190Met|593/1238|569/948|190/315||,A|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_1|ENST00000318753|protein_coding|4/4|c.569C>T||||||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*829C>T|||||2980|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*551C>T|||||6110|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4213|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2417|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||2900|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3141|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2457G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2457G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2457G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*829C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2313C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*551C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1673C>T||||||
22	24982254	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.548C>T|p.Ala183Val|572/1238|548/948|183/315||,A|sequence_feature|LOW|FAM211B|ENSG00000178026|repeat:LRR_1|ENST00000318753|protein_coding|4/4|c.548C>T||||||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*808C>T|||||2959|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*530C>T|||||6089|,A|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>A|||||4234|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||2396|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||2879|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||3120|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2478G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2478G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2478G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*808C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2292C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*530C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1652C>T||||||
22	24982301	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.501C>A|p.Asp167Glu|525/1238|501/948|167/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*761C>A|||||2912|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*483C>A|||||6042|,T|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446G>T|||||4281|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>A|||||2349|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>A|||||2832|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>A|||||3073|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2525G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2525G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2525G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*761C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2245C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*483C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1605C>A||||||
22	24982335	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|4/4|c.467T>C|p.Val156Ala|491/1238|467/948|156/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*727T>C|||||2878|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*449T>C|||||6008|,G|downstream_gene_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000402849|protein_coding||c.*446A>G|||||4315|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782T>C|||||2315|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957T>C|||||2798|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575T>C|||||3039|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+2559A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+2559A>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+2559A>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|5/5|n.*727T>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|4/4|n.2211T>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|5/5|n.*449T>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|4/4|n.1571T>C||||||
22	24984186	.	T	G	.	.	ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.418A>C|p.Ser140Arg|442/1238|418/948|140/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*678A>C|||||1027|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*400A>C|||||4157|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782A>C|||||464|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957A>C|||||947|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575A>C|||||1188|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4410T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4410T>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4410T>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*678A>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2162A>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*400A>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1522A>C||||||
22	24984189	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.415C>A|p.Gln139Lys|439/1238|415/948|139/315||,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*675C>A|||||1024|,T|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*397C>A|||||4154|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>A|||||461|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>A|||||944|,T|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>A|||||1185|,T|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4413G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4413G>T||||||,T|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4413G>T||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*675C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2159C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*397C>A||||||,T|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1519C>A||||||
22	24984204	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.400C>T|p.Arg134Cys|424/1238|400/948|134/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*660C>T|||||1009|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*382C>T|||||4139|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||446|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||929|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||1170|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4428G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4428G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4428G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*660C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2144C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*382C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1504C>T||||||
22	24984215	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.389G>C|p.Gly130Ala|413/1238|389/948|130/315||,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*649G>C|||||998|,G|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*371G>C|||||4128|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>C|||||435|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>C|||||918|,G|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>C|||||1159|,G|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4439C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4439C>G||||||,G|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4439C>G||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*649G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2133G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*371G>C||||||,G|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1493G>C||||||
22	24984260	.	C	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.344G>T|p.Arg115Leu|368/1238|344/948|115/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*604G>T|||||953|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*326G>T|||||4083|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782G>T|||||390|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957G>T|||||873|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575G>T|||||1114|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4484C>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4484C>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4484C>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*604G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2088G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*326G>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1448G>T||||||
22	24984270	.	T	C	.	.	ANN=C|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.334A>G|p.Lys112Glu|358/1238|334/948|112/315||,C|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*594A>G|||||943|,C|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*316A>G|||||4073|,C|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782A>G|||||380|,C|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957A>G|||||863|,C|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575A>G|||||1104|,C|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4494T>C||||||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4494T>C||||||,C|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4494T>C||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*594A>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2078A>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*316A>G||||||,C|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1438A>G||||||
22	24984275	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|3/4|c.329C>T|p.Ser110Leu|353/1238|329/948|110/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*589C>T|||||938|,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*311C>T|||||4068|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript||n.*782C>T|||||375|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron||n.*957C>T|||||858|,A|downstream_gene_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript||n.*575C>T|||||1099|,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+4499G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+4499G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+4499G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|4/5|n.*589C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|3/4|n.2073C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|4/5|n.*311C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|3/4|n.1433C>T||||||
22	24985853	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM211B|ENSG00000178026|transcript|ENST00000318753|protein_coding|2/4|c.242C>T|p.Pro81Leu|266/1238|242/948|81/315||,A|3_prime_UTR_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/5|n.*224C>T|||||2490|,A|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000456869|protein_coding||c.-508G>A|||||4925|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000411974|protein_coding||c.-397G>A|||||4928|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|GGT1|ENSG00000100031|transcript|ENST00000248923|protein_coding|1/15|c.-429+6077G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000404603|nonsense_mediated_decay|5/6|n.*167+6077G>A||||||,A|intron_variant|MODIFIER|SNRPD3|ENSG00000100028|transcript|ENST00000439775|nonsense_mediated_decay|5/6|n.*162+6077G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000446942|nonsense_mediated_decay|2/5|n.242C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000491910|retained_intron|2/4|n.922C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000404045|nonsense_mediated_decay|3/5|n.*224C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000460524|retained_intron|2/4|n.282C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000495297|processed_transcript|2/3|n.134C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000465334|retained_intron|2/2|n.237C>T||||||,A|non_coding_exon_variant|MODIFIER|FAM211B|ENSG00000178026|transcript|ENST00000464490|processed_transcript|3/4|n.303C>T||||||
22	25115449	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2639T>C|p.Phe880Ser|3056/3504|2639/2649|880/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2285T>C|p.Phe762Ser|2873/3105|2285/2295|762/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2285T>C|p.Phe762Ser|3000/3232|2285/2295|762/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3033T>C||||||
22	25115456	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2632C>T|p.Arg878Cys|3049/3504|2632/2649|878/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2278C>T|p.Arg760Cys|2866/3105|2278/2295|760/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2278C>T|p.Arg760Cys|2993/3232|2278/2295|760/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3026C>T||||||
22	25115459	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2629A>C|p.Thr877Pro|3046/3504|2629/2649|877/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2275A>C|p.Thr759Pro|2863/3105|2275/2295|759/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2275A>C|p.Thr759Pro|2990/3232|2275/2295|759/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.3023A>C||||||
22	25115524	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|21/21|c.2564A>G|p.Tyr855Cys|2981/3504|2564/2649|855/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|22/22|c.2210A>G|p.Tyr737Cys|2798/3105|2210/2295|737/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|22/22|c.2210A>G|p.Tyr737Cys|2925/3232|2210/2295|737/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2564A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2564A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|21/21|n.2958A>G||||||
22	25115747	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2500T>C|p.Tyr834His|2917/3504|2500/2649|834/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2146T>C|p.Tyr716His|2734/3105|2146/2295|716/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2146T>C|p.Tyr716His|2861/3232|2146/2295|716/764||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2500T>C||||||,G|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2500T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2894T>C||||||
22	25115749	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|20/21|c.2498C>T|p.Thr833Ile|2915/3504|2498/2649|833/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|21/22|c.2144C>T|p.Thr715Ile|2732/3105|2144/2295|715/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|21/22|c.2144C>T|p.Thr715Ile|2859/3232|2144/2295|715/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.2498C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.2498C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|20/21|n.2892C>T||||||
22	25123975	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|16/21|c.1978G>A|p.Val660Ile|2395/3504|1978/2649|660/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|17/22|c.1624G>A|p.Val542Ile|2212/3105|1624/2295|542/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|17/22|c.1624G>A|p.Val542Ile|2339/3232|1624/2295|542/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1978G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1978G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|16/21|n.2372G>A||||||
22	25124155	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|15/21|c.1921G>A|p.Val641Met|2338/3504|1921/2649|641/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|16/22|c.1567G>A|p.Val523Met|2155/3105|1567/2295|523/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|16/22|c.1567G>A|p.Val523Met|2282/3232|1567/2295|523/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|18/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|17/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|15/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|16/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|19/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|20/21|c.1921G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:Piwi|ENST00000332271|protein_coding|21/21|c.1921G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|15/21|n.2315G>A||||||
22	25130068	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/21|c.1690A>G|p.Arg564Gly|2107/3504|1690/2649|564/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/22|c.1363A>G|p.Arg455Gly|1951/3105|1363/2295|455/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/22|c.1363A>G|p.Arg455Gly|2078/3232|1363/2295|455/764||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/21|n.2111A>G||||||
22	25130085	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|14/21|c.1673C>T|p.Thr558Ile|2090/3504|1673/2649|558/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|15/22|c.1346C>T|p.Thr449Ile|1934/3105|1346/2295|449/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|15/22|c.1346C>T|p.Thr449Ile|2061/3232|1346/2295|449/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|14/21|n.2094C>T||||||
22	25131837	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|13/21|c.1472A>G|p.Asp491Gly|1889/3504|1472/2649|491/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|14/22|c.1145A>G|p.Asp382Gly|1733/3105|1145/2295|382/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|14/22|c.1145A>G|p.Asp382Gly|1860/3232|1145/2295|382/764||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|13/21|n.1893A>G||||||
22	25144912	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|12/21|c.1411G>A|p.Val471Ile|1828/3504|1411/2649|471/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|13/22|c.1084G>A|p.Val362Ile|1672/3105|1084/2295|362/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|13/22|c.1084G>A|p.Val362Ile|1799/3232|1084/2295|362/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|12/21|n.1832G>A||||||
22	25145453	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/21|c.1252G>A|p.Val418Met|1669/3504|1252/2649|418/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/22|c.925G>A|p.Val309Met|1513/3105|925/2295|309/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/22|c.925G>A|p.Val309Met|1640/3232|925/2295|309/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/21|n.1673G>A||||||
22	25145471	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|11/21|c.1234T>C|p.Cys412Arg|1651/3504|1234/2649|412/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|12/22|c.907T>C|p.Cys303Arg|1495/3105|907/2295|303/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|12/22|c.907T>C|p.Cys303Arg|1622/3232|907/2295|303/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|11/21|n.1655T>C||||||
22	25145713	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/21|c.1163C>T|p.Thr388Met|1580/3504|1163/2649|388/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/22|c.836C>T|p.Thr279Met|1424/3105|836/2295|279/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/22|c.836C>T|p.Thr279Met|1551/3232|836/2295|279/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1163C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1163C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1163C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1163C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/21|n.1584C>T||||||
22	25145753	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|10/21|c.1123C>T|p.Pro375Ser|1540/3504|1123/2649|375/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|11/22|c.796C>T|p.Pro266Ser|1384/3105|796/2295|266/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|11/22|c.796C>T|p.Pro266Ser|1511/3232|796/2295|266/764||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1123C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1123C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1123C>T||||||,A|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1123C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|10/21|n.1544C>T||||||
22	25147389	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.1054G>A|p.Gly352Ser|1471/3504|1054/2649|352/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.727G>A|p.Gly243Ser|1315/3105|727/2295|243/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.727G>A|p.Gly243Ser|1442/3232|727/2295|243/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.1054G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.1054G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.1054G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.1054G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1475G>A||||||
22	25147456	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.987C>A|p.Asn329Lys|1404/3504|987/2649|329/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.660C>A|p.Asn220Lys|1248/3105|660/2295|220/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.660C>A|p.Asn220Lys|1375/3232|660/2295|220/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.987C>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.987C>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.987C>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.987C>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1408C>A||||||
22	25147461	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|9/21|c.982A>G|p.Asn328Asp|1399/3504|982/2649|328/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|10/22|c.655A>G|p.Asn219Asp|1243/3105|655/2295|219/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|10/22|c.655A>G|p.Asn219Asp|1370/3232|655/2295|219/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.982A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.982A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.982A>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.982A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|9/21|n.1403A>G||||||
22	25149988	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.970C>G|p.Leu324Val|1387/3504|970/2649|324/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.643C>G|p.Leu215Val|1231/3105|643/2295|215/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.643C>G|p.Leu215Val|1358/3232|643/2295|215/764||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.970C>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.970C>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.970C>G||||||,C|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.970C>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1391C>G||||||
22	25150051	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.907G>A|p.Ala303Thr|1324/3504|907/2649|303/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.580G>A|p.Ala194Thr|1168/3105|580/2295|194/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.580G>A|p.Ala194Thr|1295/3232|580/2295|194/764||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|10/21|c.907G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|9/21|c.907G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|8/21|c.907G>A||||||,T|sequence_feature|LOW|PIWIL3|ENSG00000184571|domain:PAZ|ENST00000332271|protein_coding|11/21|c.907G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1328G>A||||||
22	25150138	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|8/21|c.820T>C|p.Tyr274His|1237/3504|820/2649|274/882||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|9/22|c.493T>C|p.Tyr165His|1081/3105|493/2295|165/764||,G|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|9/22|c.493T>C|p.Tyr165His|1208/3232|493/2295|165/764||,G|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|8/21|n.1241T>C||||||
22	25150757	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/21|c.767G>A|p.Arg256His|1184/3504|767/2649|256/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/22|c.440G>A|p.Arg147His|1028/3105|440/2295|147/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/22|c.440G>A|p.Arg147His|1155/3232|440/2295|147/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/21|n.1188G>A||||||
22	25150797	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|7/21|c.727C>T|p.Arg243Cys|1144/3504|727/2649|243/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|8/22|c.400C>T|p.Arg134Cys|988/3105|400/2295|134/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|8/22|c.400C>T|p.Arg134Cys|1115/3232|400/2295|134/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|7/21|n.1148C>T||||||
22	25151833	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|6/21|c.610G>A|p.Val204Met|1027/3504|610/2649|204/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|7/22|c.283G>A|p.Val95Met|871/3105|283/2295|95/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|7/22|c.283G>A|p.Val95Met|998/3232|283/2295|95/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|6/21|n.1031G>A||||||
22	25152463	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.565G>A|p.Glu189Lys|982/3504|565/2649|189/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.238G>A|p.Glu80Lys|826/3105|238/2295|80/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.238G>A|p.Glu80Lys|953/3232|238/2295|80/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.986G>A||||||
22	25152471	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.557C>T|p.Pro186Leu|974/3504|557/2649|186/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.230C>T|p.Pro77Leu|818/3105|230/2295|77/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.230C>T|p.Pro77Leu|945/3232|230/2295|77/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.978C>T||||||
22	25152475	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.553C>T|p.Arg185Trp|970/3504|553/2649|185/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.226C>T|p.Arg76Trp|814/3105|226/2295|76/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.226C>T|p.Arg76Trp|941/3232|226/2295|76/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.974C>T||||||
22	25152477	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.551C>T|p.Ser184Phe|968/3504|551/2649|184/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.224C>T|p.Ser75Phe|812/3105|224/2295|75/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.224C>T|p.Ser75Phe|939/3232|224/2295|75/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.972C>T||||||
22	25152499	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.529G>A|p.Asp177Asn|946/3504|529/2649|177/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.202G>A|p.Asp68Asn|790/3105|202/2295|68/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.202G>A|p.Asp68Asn|917/3232|202/2295|68/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.950G>A||||||
22	25152511	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.517C>T|p.Arg173Cys|934/3504|517/2649|173/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.190C>T|p.Arg64Cys|778/3105|190/2295|64/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.190C>T|p.Arg64Cys|905/3232|190/2295|64/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.938C>T||||||
22	25152553	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.475C>T|p.Arg159Cys|892/3504|475/2649|159/882||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.148C>T|p.Arg50Cys|736/3105|148/2295|50/764||,A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.148C>T|p.Arg50Cys|863/3232|148/2295|50/764||,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.896C>T||||||
22	25152618	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.410G>A|p.Arg137His|827/3504|410/2649|137/882||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.83G>A|p.Arg28His|671/3105|83/2295|28/764||,T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.83G>A|p.Arg28His|798/3232|83/2295|28/764||,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.831G>A||||||
22	25152652	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|5/21|c.376C>G|p.Gln126Glu|793/3504|376/2649|126/882||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|6/22|c.49C>G|p.Gln17Glu|637/3105|49/2295|17/764||,C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|6/22|c.49C>G|p.Gln17Glu|764/3232|49/2295|17/764||,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|5/21|n.797C>G||||||
22	25155922	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/21|c.137G>A|p.Arg46Gln|554/3504|137/2649|46/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/22|c.-191G>A|||||2020|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/22|c.-191G>A|||||2020|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/21|n.558G>A||||||
22	25155925	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|3/21|c.134C>T|p.Pro45Leu|551/3504|134/2649|45/882||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|4/22|c.-194C>T|||||2023|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|4/22|c.-194C>T|||||2023|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|3/21|n.555C>T||||||
22	25158384	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.83G>A|p.Arg28Lys|500/3504|83/2649|28/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-328G>A|||||4482|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-336G>A|||||4482|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.504G>A||||||
22	25158391	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.76G>A|p.Gly26Arg|493/3504|76/2649|26/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-335G>A|||||4489|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-343G>A|||||4489|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.497G>A||||||
22	25158404	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.63A>T|p.Gln21His|480/3504|63/2649|21/882||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-348A>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-356A>T||||||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-348A>T|||||4502|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-356A>T|||||4502|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.484A>T||||||
22	25158423	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.44G>A|p.Arg15His|461/3504|44/2649|15/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-367G>A|||||4521|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-375G>A|||||4521|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.465G>A||||||
22	25158438	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.29G>A|p.Arg10Gln|446/3504|29/2649|10/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-382G>A|||||4536|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-390G>A|||||4536|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.450G>A||||||
22	25158439	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.28C>G|p.Arg10Gly|445/3504|28/2649|10/882||,C|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-383C>G|||||4537|,C|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-391C>G|||||4537|,C|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.449C>G||||||
22	25158444	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.23G>A|p.Arg8His|440/3504|23/2649|8/882||,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-388G>A|||||4542|,T|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-396G>A|||||4542|,T|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.444G>A||||||
22	25158445	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIWIL3|ENSG00000184571|transcript|ENST00000332271|protein_coding|2/21|c.22C>T|p.Arg8Cys|439/3504|22/2649|8/882||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-389C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-397C>T||||||,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000527701|protein_coding|2/22|c.-389C>T|||||4543|,A|5_prime_UTR_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000533313|protein_coding|3/22|c.-397C>T|||||4543|,A|non_coding_exon_variant|MODIFIER|PIWIL3|ENSG00000184571|transcript|ENST00000532537|processed_transcript|2/21|n.443C>T||||||
22	25243706	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|4/26|c.245C>T|p.Pro82Leu|252/4317|245/3447|82/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|4/25|c.245C>T|p.Pro82Leu|302/6643|245/3282|82/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.245C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.245C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|2/22|n.1619C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|2/23|n.338C>T||||||
22	25243709	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|4/26|c.248C>T|p.Pro83Leu|255/4317|248/3447|83/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|4/25|c.248C>T|p.Pro83Leu|305/6643|248/3282|83/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.248C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.248C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|2/22|n.1622C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|2/23|n.341C>T||||||
22	25246287	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|5/26|c.343C>G|p.Leu115Val|350/4317|343/3447|115/1148||,G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|5/25|c.343C>G|p.Leu115Val|400/6643|343/3282|115/1093||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.343C>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.343C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|3/22|n.1717C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|3/23|n.436C>G||||||
22	25246311	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|5/26|c.367C>T|p.Pro123Ser|374/4317|367/3447|123/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|5/25|c.367C>T|p.Pro123Ser|424/6643|367/3282|123/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|3/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|7/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|4/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|6/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400359|protein_coding|5/26|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|3/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|7/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|4/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|6/25|c.367C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:RUN|ENST00000400358|protein_coding|5/25|c.367C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|3/22|n.1741C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|3/23|n.460C>T||||||
22	25251372	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/26|c.644C>T|p.Ser215Leu|651/4317|644/3447|215/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/25|c.644C>T|p.Ser215Leu|701/6643|644/3282|215/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/22|n.2018C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/23|n.737C>T||||||
22	25251378	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|7/26|c.650C>A|p.Thr217Asn|657/4317|650/3447|217/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|7/25|c.650C>A|p.Thr217Asn|707/6643|650/3282|217/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|5/22|n.2024C>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|5/23|n.743C>A||||||
22	25251520	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|8/26|c.674A>C|p.Gln225Pro|681/4317|674/3447|225/1148||,C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|8/25|c.674A>C|p.Gln225Pro|731/6643|674/3282|225/1093||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|6/22|n.2048A>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|6/23|n.767A>C||||||
22	25264730	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|12/26|c.1199G>A|p.Gly400Asp|1206/4317|1199/3447|400/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/25|c.1199G>A|p.Gly400Asp|1256/6643|1199/3282|400/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/22|n.2573G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/23|n.1292G>A||||||
22	25270390	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1300G>A|p.Asp434Asn|1307/4317|1300/3447|434/1148||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2154G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2154G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2154G>A||||||
22	25270441	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1351G>C|p.Val451Leu|1358/4317|1351/3447|451/1148||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2103G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2103G>C||||||,C|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2103G>C||||||
22	25270520	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1430C>T|p.Thr477Met|1437/4317|1430/3447|477/1148||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2024C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2024C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2024C>T||||||
22	25270529	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|13/26|c.1439C>T|p.Pro480Leu|1446/4317|1439/3447|480/1148||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|12/24|c.1292-2015C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|10/21|n.2666-2015C>T||||||,T|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|10/22|n.1385-2015C>T||||||
22	25272606	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|14/26|c.1519C>T|p.Arg507Trp|1526/4317|1519/3447|507/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|13/25|c.1354C>T|p.Arg452Trp|1411/6643|1354/3282|452/1093||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|11/22|n.2728C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|11/23|n.1447C>T||||||
22	25272645	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|14/26|c.1558G>A|p.Ala520Thr|1565/4317|1558/3447|520/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|13/25|c.1393G>A|p.Ala465Thr|1450/6643|1393/3282|465/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|11/22|n.2767G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|11/23|n.1486G>A||||||
22	25280157	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|16/26|c.1798G>A|p.Asp600Asn|1805/4317|1798/3447|600/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|15/25|c.1633G>A|p.Asp545Asn|1690/6643|1633/3282|545/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|13/22|n.3007G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|13/23|n.1726G>A||||||
22	25282676	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|17/26|c.1916C>T|p.Thr639Met|1923/4317|1916/3447|639/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|16/25|c.1751C>T|p.Thr584Met|1808/6643|1751/3282|584/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.1916C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1751C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1751C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/22|n.3125C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|14/23|n.1844C>T||||||
22	25289468	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|18/26|c.2006G>A|p.Arg669Gln|2013/4317|2006/3447|669/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|17/25|c.1841G>A|p.Arg614Gln|1898/6643|1841/3282|614/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2006G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.1841G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.1841G>A||||||,A|intron_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|14/21|n.3145-1722G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|15/23|n.1934G>A||||||
22	25293954	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2203G>C|p.Asp735His|2210/4317|2203/3447|735/1148||,C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2038G>C|p.Asp680His|2095/6643|2038/3282|680/1093||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2203G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2038G>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2038G>C||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>G|||||3160|,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3229G>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2131G>C||||||
22	25294155	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2404A>C|p.Thr802Pro|2411/4317|2404/3447|802/1148||,C|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2239A>C|p.Thr747Pro|2296/6643|2239/3282|747/1093||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2404A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2239A>C||||||,C|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2239A>C||||||,C|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68T>G|||||2959|,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3430A>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2332A>C||||||
22	25294234	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2483G>A|p.Arg828Gln|2490/4317|2483/3447|828/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2318G>A|p.Arg773Gln|2375/6643|2318/3282|773/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2483G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2318G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2318G>A||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>T|||||2880|,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3509G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2411G>A||||||
22	25294369	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2618G>A|p.Arg873Lys|2625/4317|2618/3447|873/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2453G>A|p.Arg818Lys|2510/6643|2453/3282|818/1093||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2618G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2453G>A||||||,A|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2453G>A||||||,A|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68C>T|||||2745|,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3644G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2546G>A||||||
22	25294399	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2648C>T|p.Ala883Val|2655/4317|2648/3447|883/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2483C>T|p.Ala828Val|2540/6643|2483/3282|828/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2648C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2483C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2483C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2715|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3674C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2576C>T||||||
22	25294420	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|20/26|c.2669C>T|p.Ser890Leu|2676/4317|2669/3447|890/1148||,T|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|19/25|c.2504C>T|p.Ser835Leu|2561/6643|2504/3282|835/1093||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2669C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2504C>T||||||,T|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2504C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.*68G>A|||||2694|,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|16/22|n.3695C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|17/23|n.2597C>T||||||
22	25301142	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|22/26|c.2971A>G|p.Ile991Val|2978/4317|2971/3447|991/1148||,G|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|21/25|c.2806A>G|p.Ile936Val|2863/6643|2806/3282|936/1093||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|22/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|19/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|17/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|23/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|25/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|24/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|18/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|20/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400359|protein_coding|21/26|c.2971A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|21/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|18/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|16/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|22/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|24/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|23/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|17/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|19/25|c.2806A>G||||||,G|sequence_feature|LOW|SGSM1|ENSG00000167037|domain:Rab-GAP_TBC|ENST00000400358|protein_coding|20/25|c.2806A>G||||||,G|upstream_gene_variant|MODIFIER|SNORD56|ENSG00000199783|transcript|ENST00000362913|snoRNA||n.-1T>C|||||3961|,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|18/22|n.3997A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|19/23|n.2899A>G||||||
22	25315849	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400359|protein_coding|25/26|c.3247G>A|p.Val1083Ile|3254/4317|3247/3447|1083/1148||,A|missense_variant|MODERATE|SGSM1|ENSG00000167037|transcript|ENST00000400358|protein_coding|24/25|c.3082G>A|p.Val1028Ile|3139/6643|3082/3282|1028/1093||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000473458|retained_intron|21/22|n.4273G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM1|ENSG00000167037|transcript|ENST00000480523|retained_intron|22/23|n.3175G>A||||||
22	25331451	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|3/3|c.452G>A|p.Gly151Asp|452/695|452/603|151/200||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|4/4|c.239G>A|p.Gly80Asp|492/866|239/390|80/129||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|3/3|c.239G>A|p.Gly80Asp|264/507|239/390|80/129||,T|sequence_feature|LOW|TMEM211|ENSG00000206069|transmembrane_region:Transmembrane_region|ENST00000423535|protein_coding|3/3|c.452G>A||||||
22	25334184	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000423535|protein_coding|2/3|c.272C>A|p.Ala91Asp|272/695|272/603|91/200||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000407886|protein_coding|3/4|c.59C>A|p.Ala20Asp|312/866|59/390|20/129||,T|missense_variant|MODERATE|TMEM211|ENSG00000206069|transcript|ENST00000382744|protein_coding|2/3|c.59C>A|p.Ala20Asp|84/507|59/390|20/129||
22	25597401	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|2/6|c.38C>G|p.Ala13Gly|118/867|38/636|13/211||,G|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|2/5|c.38C>G|p.Ala13Gly|91/601|38/342|13/113||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:N-terminal_arm|ENST00000215855|protein_coding|2/6|c.38C>G||||||,G|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000358431|protein_coding||c.*5447C>G|||||3990|,G|downstream_gene_variant|MODIFIER|KIAA1671|ENSG00000197077|transcript|ENST00000401395|protein_coding||c.*1339C>G|||||3986|
22	25598661	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/6|c.96G>T|p.Glu32Asp|176/867|96/636|32/211||,T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/5|c.96G>T|p.Glu32Asp|149/601|96/342|32/113||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.96G>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.96G>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|helix|ENST00000215855|protein_coding|3/6|c.96G>T||||||
22	25598690	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|3/6|c.125C>T|p.Ser42Leu|205/867|125/636|42/211||,T|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|3/5|c.125C>T|p.Ser42Leu|178/601|125/342|42/113||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|3/6|c.125C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215855|protein_coding|2/6|c.125C>T||||||,T|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|3/6|c.125C>T||||||
22	25599759	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.224G>A|p.Arg75His|304/867|224/636|75/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.224G>A|p.Arg75His|277/601|224/342|75/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.224G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.224G>A||||||
22	25599770	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.235T>A|p.Phe79Ile|315/867|235/636|79/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.235T>A|p.Phe79Ile|288/601|235/342|79/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.235T>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.235T>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|4/6|c.235T>A||||||
22	25599849	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|4/6|c.314G>A|p.Arg105Gln|394/867|314/636|105/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/5|c.314G>A|p.Arg105Gln|367/601|314/342|105/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|3/6|c.314G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215855|protein_coding|4/6|c.314G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|4/6|c.314G>A||||||
22	25601196	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/6|c.337C>G|p.His113Asp|417/867|337/636|113/211||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:Connecting_peptide|ENST00000215855|protein_coding|5/6|c.337C>G||||||,G|sequence_feature|LOW|CRYBB3|ENSG00000100053|region_of_interest:Connecting_peptide|ENST00000215855|protein_coding|4/6|c.337C>G||||||,G|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1334C>G||||||
22	25601239	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/6|c.380G>A|p.Arg127His|460/867|380/636|127/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215855|protein_coding|5/6|c.380G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|5/6|c.380G>A||||||,A|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1377G>A||||||
22	25601251	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|5/6|c.392T>C|p.Ile131Thr|472/867|392/636|131/211||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215855|protein_coding|5/6|c.392T>C||||||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|5/6|c.392T>C||||||,C|intron_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|4/4|c.327+1389T>C||||||
22	25603018	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.475G>A|p.Val159Ile|555/867|475/636|159/211||,A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.332G>A|p.Gly111Asp|385/601|332/342|111/113||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.475G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.475G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|6/6|c.475G>A||||||
22	25603067	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.524G>A|p.Arg175Gln|604/867|524/636|175/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.524G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.524G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|6/6|c.524G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*39G>A|||||39|
22	25603095	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.552G>C|p.Trp184Cys|632/867|552/636|184/211||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.552G>C||||||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.552G>C||||||,C|sequence_feature|LOW|CRYBB3|ENSG00000100053|helix|ENST00000215855|protein_coding|6/6|c.552G>C||||||,C|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*67G>C|||||67|
22	25603127	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.584G>A|p.Arg195His|664/867|584/636|195/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.584G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.584G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|beta_strand|ENST00000215855|protein_coding|6/6|c.584G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*99G>A|||||99|
22	25603136	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB3|ENSG00000100053|transcript|ENST00000215855|protein_coding|6/6|c.593G>A|p.Arg198His|673/867|593/636|198/211||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|5/6|c.593G>A||||||,A|sequence_feature|LOW|CRYBB3|ENSG00000100053|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215855|protein_coding|6/6|c.593G>A||||||,A|3_prime_UTR_variant|MODIFIER|CRYBB3|ENSG00000100053|transcript|ENST00000404334|protein_coding|5/5|c.*108G>A|||||108|
22	25617436	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|2/6|c.40T>A|p.Ser14Thr|211/886|40/618|14/205||,A|sequence_feature|LOW|CRYBB2|ENSG00000244752|region_of_interest:N-terminal_arm|ENST00000398215|protein_coding|2/6|c.40T>A||||||
22	25623839	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|4/6|c.193G>T|p.Ala65Ser|364/886|193/618|65/205||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000398215|protein_coding|3/6|c.193G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000398215|protein_coding|4/6|c.193G>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|turn|ENST00000398215|protein_coding|4/6|c.193G>T||||||
22	25627692	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB2|ENSG00000244752|transcript|ENST00000398215|protein_coding|6/6|c.571C>T|p.Arg191Cys|742/886|571/618|191/205||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000398215|protein_coding|6/6|c.571C>T||||||,T|sequence_feature|LOW|CRYBB2|ENSG00000244752|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000398215|protein_coding|5/6|c.571C>T||||||
22	25747779	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.746C>T|p.Ala249Val|843/1193|746/759|249/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.746C>T|p.Ala249Val|1270/1661|746/759|249/252||,A|missense_variant&splice_region_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|7/7|c.658C>T|p.Pro220Ser|1359/1714|658/675|220/224||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*444C>T|||||5579|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||1490|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||2945|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3211C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*444C>T||||||
22	25747801	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.724G>A|p.Gly242Ser|821/1193|724/759|242/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.724G>A|p.Gly242Ser|1248/1661|724/759|242/252||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*422G>A|||||5557|,T|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>A|||||1512|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>A|||||2923|,T|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.656-20G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3189G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*422G>A||||||
22	25747810	.	T	A	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|4/4|c.715A>T|p.Thr239Ser|812/1193|715/759|239/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|6/6|c.715A>T|p.Thr239Ser|1239/1661|715/759|239/252||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*413A>T|||||5548|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1A>T|||||1521|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608A>T|||||2914|,A|intron_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/6|c.656-29A>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|4/4|n.3180A>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|4/4|n.*413A>T||||||
22	25750578	.	C	G	.	.	ANN=G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.640G>C|p.Val214Leu|737/1193|640/759|214/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.640G>C|p.Val214Leu|1164/1661|640/759|214/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.640G>C|p.Val214Leu|1341/1714|640/675|214/224||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.640G>C||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.640G>C||||||,G|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*338G>C|||||2780|,G|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>C|||||4289|,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>C|||||146|,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3105G>C||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*338G>C||||||
22	25750631	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.587G>A|p.Arg196Gln|684/1193|587/759|196/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.587G>A|p.Arg196Gln|1111/1661|587/759|196/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.587G>A|p.Arg196Gln|1288/1714|587/675|196/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.587G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.587G>A||||||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*285G>A|||||2727|,T|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1G>A|||||4342|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608G>A|||||93|,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3052G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*285G>A||||||
22	25750656	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|3/4|c.562C>T|p.Arg188Trp|659/1193|562/759|188/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|5/6|c.562C>T|p.Arg188Trp|1086/1661|562/759|188/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|6/7|c.562C>T|p.Arg188Trp|1263/1714|562/675|188/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000402785|protein_coding|3/4|c.562C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_5|ENST00000444995|protein_coding|6/7|c.562C>T||||||,A|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*260C>T|||||2702|,A|upstream_gene_variant|MODIFIER|CTA-246H3.11|ENSG00000231466|transcript|ENST00000434827|processed_pseudogene||n.-1C>T|||||4367|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.*608C>T|||||68|,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|3/4|n.3027C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|3/4|n.*260C>T||||||
22	25753310	.	T	C	.	.	ANN=C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.350A>G|p.Asn117Ser|447/1193|350/759|117/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.350A>G|p.Asn117Ser|874/1661|350/759|117/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.350A>G|p.Asn117Ser|1051/1714|350/675|117/224||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.350A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.350A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.350A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.350A>G||||||,C|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*48A>G|||||48|,C|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600A>G|||||2739|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2815A>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*48A>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.464A>G||||||
22	25753349	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|2/4|c.311G>A|p.Arg104His|408/1193|311/759|104/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|4/6|c.311G>A|p.Arg104His|835/1661|311/759|104/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|5/7|c.311G>A|p.Arg104His|1012/1714|311/675|104/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|2/4|c.311G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000402785|protein_coding|1/4|c.311G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|4/7|c.311G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_3|ENST00000444995|protein_coding|5/7|c.311G>A||||||,T|3_prime_UTR_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*9G>A|||||9|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||2700|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|2/4|n.2776G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|2/4|n.*9G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron|1/2|n.425G>A||||||
22	25755878	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.182C>T|p.Thr61Met|279/1193|182/759|61/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.182C>T|p.Thr61Met|706/1661|182/759|61/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.182C>T|p.Thr61Met|883/1714|182/675|61/224||,A|splice_region_variant&intron_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/3|n.177+5C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.182C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.182C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2105|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||171|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2647C>T||||||
22	25755885	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.175G>A|p.Glu59Lys|272/1193|175/759|59/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.175G>A|p.Glu59Lys|699/1661|175/759|59/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.175G>A|p.Glu59Lys|876/1714|175/675|59/224||,T|splice_region_variant&non_coding_exon_variant|LOW|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.175G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.175G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.175G>A||||||,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2112|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||164|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2640G>A||||||
22	25755908	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.152C>T|p.Thr51Ile|249/1193|152/759|51/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.152C>T|p.Thr51Ile|676/1661|152/759|51/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.152C>T|p.Thr51Ile|853/1714|152/675|51/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.152C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.152C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2135|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||141|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2617C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.152C>T||||||
22	25755914	.	T	C	.	.	ANN=C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.146A>G|p.Tyr49Cys|243/1193|146/759|49/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.146A>G|p.Tyr49Cys|670/1661|146/759|49/252||,C|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.146A>G|p.Tyr49Cys|847/1714|146/675|49/224||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000402785|protein_coding|1/4|c.146A>G||||||,C|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_2|ENST00000444995|protein_coding|4/7|c.146A>G||||||,C|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1A>G|||||2141|,C|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600A>G|||||135|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2611A>G||||||,C|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.146A>G||||||
22	25755942	.	C	A,G,T	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.118G>T|p.Ala40Ser|215/1193|118/759|40/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.118G>C|p.Ala40Pro|215/1193|118/759|40/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.118G>A|p.Ala40Thr|215/1193|118/759|40/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.118G>T|p.Ala40Ser|642/1661|118/759|40/252||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.118G>C|p.Ala40Pro|642/1661|118/759|40/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.118G>A|p.Ala40Thr|642/1661|118/759|40/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.118G>T|p.Ala40Ser|819/1714|118/675|40/224||,G|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.118G>C|p.Ala40Pro|819/1714|118/675|40/224||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.118G>A|p.Ala40Thr|819/1714|118/675|40/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.118G>T||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.118G>C||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.118G>A||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.118G>T||||||,G|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.118G>C||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.118G>A||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>T|||||2169|,G|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>C|||||2169|,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2169|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>T|||||107|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>C|||||107|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||107|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2583G>T||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2583G>C||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2583G>A||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.118G>T||||||,G|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.118G>C||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.118G>A||||||
22	25755980	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.80C>T|p.Thr27Met|177/1193|80/759|27/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.80C>T|p.Thr27Met|604/1661|80/759|27/252||,A|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.80C>T|p.Thr27Met|781/1714|80/675|27/224||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.80C>T||||||,A|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.80C>T||||||,A|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1C>T|||||2207|,A|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600C>T|||||69|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2545C>T||||||,A|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.80C>T||||||
22	25755987	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402785|protein_coding|1/4|c.73G>A|p.Ala25Thr|170/1193|73/759|25/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000402859|protein_coding|3/6|c.73G>A|p.Ala25Thr|597/1661|73/759|25/252||,T|missense_variant|MODERATE|LRP5L|ENSG00000100068|transcript|ENST00000444995|protein_coding|4/7|c.73G>A|p.Ala25Thr|774/1714|73/675|25/224||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000402785|protein_coding|1/4|c.73G>A||||||,T|sequence_feature|LOW|LRP5L|ENSG00000100068|repeat:LDL-receptor_class_B_1|ENST00000444995|protein_coding|4/7|c.73G>A||||||,T|upstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000484509|retained_intron||n.-1G>A|||||2214|,T|downstream_gene_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000468442|protein_coding||c.*600G>A|||||62|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000467672|retained_intron|1/4|n.2538G>A||||||,T|non_coding_exon_variant|MODIFIER|LRP5L|ENSG00000100068|transcript|ENST00000474163|nonsense_mediated_decay|1/4|n.73G>A||||||
22	26068297	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|7/21|c.538G>A|p.Val180Ile|730/9103|538/2067|180/688||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|1/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|4/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|3/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|2/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|8/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|5/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|7/21|c.538G>A||||||,A|sequence_feature|LOW|ADRBK2|ENSG00000100077|region_of_interest:N-terminal|ENST00000324198|protein_coding|6/21|c.538G>A||||||,A|3_prime_UTR_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|6/9|n.*260G>A|||||10741|,A|non_coding_exon_variant|MODIFIER|ADRBK2|ENSG00000100077|transcript|ENST00000455558|nonsense_mediated_decay|6/9|n.*260G>A||||||
22	26100085	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ADRBK2|ENSG00000100077|transcript|ENST00000324198|protein_coding|15/21|c.1237C>T|p.Leu413Phe|1429/9103|1237/2067|413/688||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|9/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|16/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|14/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|12/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|13/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|11/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|15/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|8/21|c.1237C>T||||||,T|sequence_feature|LOW|ADRBK2|ENSG00000100077|domain:Protein_kinase|ENST00000324198|protein_coding|10/21|c.1237C>T||||||
22	26688377	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.100C>T|p.Leu34Phe|195/3248|100/3075|34/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.100C>T|p.Leu34Phe|296/3444|100/3072|34/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.100C>T|p.Leu34Phe|296/6532|100/3042|34/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.100C>T|p.Leu34Phe|256/6307|100/2850|34/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.100C>T|p.Leu34Phe|112/2898|100/2847|34/948||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.100C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.100C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-582C>T|||||582|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-582C>T|||||582|
22	26688378	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.101T>C|p.Leu34Pro|196/3248|101/3075|34/1024||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.101T>C|p.Leu34Pro|297/3444|101/3072|34/1023||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.101T>C|p.Leu34Pro|297/6532|101/3042|34/1013||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.101T>C|p.Leu34Pro|257/6307|101/2850|34/949||,C|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.101T>C|p.Leu34Pro|113/2898|101/2847|34/948||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.101T>C||||||,C|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.101T>C||||||,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-581T>C|||||581|,C|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-581T>C|||||581|
22	26688413	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.136C>G|p.Leu46Val|231/3248|136/3075|46/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.136C>G|p.Leu46Val|332/3444|136/3072|46/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.136C>G|p.Leu46Val|332/6532|136/3042|46/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.136C>G|p.Leu46Val|292/6307|136/2850|46/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.136C>G|p.Leu46Val|148/2898|136/2847|46/948||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.136C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.136C>G||||||,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-546C>G|||||546|,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-546C>G|||||546|
22	26688621	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.344C>G|p.Pro115Arg|439/3248|344/3075|115/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.344C>G|p.Pro115Arg|540/3444|344/3072|115/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.344C>G|p.Pro115Arg|540/6532|344/3042|115/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.344C>G|p.Pro115Arg|500/6307|344/2850|115/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.344C>G|p.Pro115Arg|356/2898|344/2847|115/948||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.344C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.344C>G||||||,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-338C>G|||||338|,G|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-338C>G|||||338|
22	26688777	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.500C>T|p.Pro167Leu|595/3248|500/3075|167/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.500C>T|p.Pro167Leu|696/3444|500/3072|167/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.500C>T|p.Pro167Leu|696/6532|500/3042|167/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.500C>T|p.Pro167Leu|656/6307|500/2850|167/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.500C>T|p.Pro167Leu|512/2898|500/2847|167/948||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-182C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-182C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.500C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.500C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-182C>T|||||182|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-182C>T|||||182|
22	26688797	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.520G>A|p.Val174Met|615/3248|520/3075|174/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.520G>A|p.Val174Met|716/3444|520/3072|174/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.520G>A|p.Val174Met|716/6532|520/3042|174/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.520G>A|p.Val174Met|676/6307|520/2850|174/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.520G>A|p.Val174Met|532/2898|520/2847|174/948||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-162G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-162G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.520G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.520G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-162G>A|||||162|,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-162G>A|||||162|
22	26688831	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.554G>T|p.Trp185Leu|649/3248|554/3075|185/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.554G>T|p.Trp185Leu|750/3444|554/3072|185/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.554G>T|p.Trp185Leu|750/6532|554/3042|185/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.554G>T|p.Trp185Leu|710/6307|554/2850|185/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.554G>T|p.Trp185Leu|566/2898|554/2847|185/948||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-128G>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-128G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.554G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.554G>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-128G>T|||||128|,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-128G>T|||||128|
22	26688840	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.563G>A|p.Arg188Gln|658/3248|563/3075|188/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.563G>A|p.Arg188Gln|759/3444|563/3072|188/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.563G>A|p.Arg188Gln|759/6532|563/3042|188/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.563G>A|p.Arg188Gln|719/6307|563/2850|188/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.563G>A|p.Arg188Gln|575/2898|563/2847|188/948||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.563G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.563G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.-119G>A|||||119|,A|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.-119G>A|||||119|
22	26689053	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|2/17|c.776A>G|p.Gln259Arg|871/3248|776/3075|259/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|2/17|c.776A>G|p.Gln259Arg|972/3444|776/3072|259/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|2/16|c.776A>G|p.Gln259Arg|972/6532|776/3042|259/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|2/15|c.776A>G|p.Gln259Arg|932/6307|776/2850|259/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|2/15|c.776A>G|p.Gln259Arg|788/2898|776/2847|259/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|1/16|c.95A>G|p.Gln32Arg|837/3306|95/2391|32/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|1/14|c.95A>G|p.Gln32Arg|837/3078|95/2163|32/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.776A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.776A>G||||||
22	26695077	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|5/17|c.1290G>T|p.Met430Ile|1385/3248|1290/3075|430/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|5/17|c.1290G>T|p.Met430Ile|1486/3444|1290/3072|430/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|5/16|c.1290G>T|p.Met430Ile|1486/6532|1290/3042|430/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|5/15|c.1290G>T|p.Met430Ile|1446/6307|1290/2850|430/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|5/15|c.1290G>T|p.Met430Ile|1302/2898|1290/2847|430/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|4/16|c.609G>T|p.Met203Ile|1351/3306|609/2391|203/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|4/14|c.609G>T|p.Met203Ile|1351/3078|609/2163|203/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|6/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000248933|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|6/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000404234|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|5/17|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|6/16|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000529632|protein_coding|5/16|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|5/16|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|6/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000360929|protein_coding|5/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|5/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|6/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_1|ENST00000343706|protein_coding|5/15|c.1290G>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|5/15|c.1290G>T||||||
22	26701977	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|6/17|c.1381A>G|p.Ile461Val|1476/3248|1381/3075|461/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|6/17|c.1381A>G|p.Ile461Val|1577/3444|1381/3072|461/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|6/16|c.1381A>G|p.Ile461Val|1577/6532|1381/3042|461/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|6/15|c.1381A>G|p.Ile461Val|1537/6307|1381/2850|461/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|6/15|c.1381A>G|p.Ile461Val|1393/2898|1381/2847|461/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|5/16|c.700A>G|p.Ile234Val|1442/3306|700/2391|234/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|5/14|c.700A>G|p.Ile234Val|1442/3078|700/2163|234/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1381A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1381A>G||||||
22	26702041	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|6/17|c.1445C>T|p.Thr482Met|1540/3248|1445/3075|482/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|6/17|c.1445C>T|p.Thr482Met|1641/3444|1445/3072|482/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|6/16|c.1445C>T|p.Thr482Met|1641/6532|1445/3042|482/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|6/15|c.1445C>T|p.Thr482Met|1601/6307|1445/2850|482/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|6/15|c.1445C>T|p.Thr482Met|1457/2898|1445/2847|482/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|5/16|c.764C>T|p.Thr255Met|1506/3306|764/2391|255/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|5/14|c.764C>T|p.Thr255Met|1506/3078|764/2163|255/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1445C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1445C>T||||||
22	26706697	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1576G>A|p.Glu526Lys|1671/3248|1576/3075|526/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1576G>A|p.Glu526Lys|1772/3444|1576/3072|526/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1576G>A|p.Glu526Lys|1772/6532|1576/3042|526/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1576G>A|p.Glu526Lys|1732/6307|1576/2850|526/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1576G>A|p.Glu526Lys|1588/2898|1576/2847|526/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.895G>A|p.Glu299Lys|1637/3306|895/2391|299/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.895G>A|p.Glu299Lys|1637/3078|895/2163|299/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1576G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1576G>A||||||
22	26706743	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1622G>A|p.Arg541His|1717/3248|1622/3075|541/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1622G>A|p.Arg541His|1818/3444|1622/3072|541/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1622G>A|p.Arg541His|1818/6532|1622/3042|541/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1622G>A|p.Arg541His|1778/6307|1622/2850|541/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1622G>A|p.Arg541His|1634/2898|1622/2847|541/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.941G>A|p.Arg314His|1683/3306|941/2391|314/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.941G>A|p.Arg314His|1683/3078|941/2163|314/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1622G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1622G>A||||||
22	26706755	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|7/17|c.1634C>T|p.Thr545Met|1729/3248|1634/3075|545/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|7/17|c.1634C>T|p.Thr545Met|1830/3444|1634/3072|545/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|7/16|c.1634C>T|p.Thr545Met|1830/6532|1634/3042|545/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|7/15|c.1634C>T|p.Thr545Met|1790/6307|1634/2850|545/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|7/15|c.1634C>T|p.Thr545Met|1646/2898|1634/2847|545/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|6/16|c.953C>T|p.Thr318Met|1695/3306|953/2391|318/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|6/14|c.953C>T|p.Thr318Met|1695/3078|953/2163|318/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|6/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|7/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000248933|protein_coding|8/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|6/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|7/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000404234|protein_coding|8/17|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|6/16|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|7/16|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000529632|protein_coding|8/16|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|6/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|7/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000360929|protein_coding|8/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|6/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|7/15|c.1634C>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_2|ENST00000343706|protein_coding|8/15|c.1634C>T||||||
22	26707892	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|8/17|c.1840G>A|p.Asp614Asn|1935/3248|1840/3075|614/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|8/17|c.1840G>A|p.Asp614Asn|2036/3444|1840/3072|614/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|8/16|c.1840G>A|p.Asp614Asn|2036/6532|1840/3042|614/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|8/15|c.1840G>A|p.Asp614Asn|1996/6307|1840/2850|614/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|8/15|c.1840G>A|p.Asp614Asn|1852/2898|1840/2847|614/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|7/16|c.1159G>A|p.Asp387Asn|1901/3306|1159/2391|387/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|7/14|c.1159G>A|p.Asp387Asn|1901/3078|1159/2163|387/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000248933|protein_coding|9/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000248933|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000404234|protein_coding|9/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000404234|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|8/17|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000529632|protein_coding|9/16|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000529632|protein_coding|8/16|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|8/16|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000360929|protein_coding|9/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000360929|protein_coding|8/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|8/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000343706|protein_coding|9/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_2|ENST00000343706|protein_coding|8/15|c.1840G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|8/15|c.1840G>A||||||
22	26736445	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|10/17|c.2059G>A|p.Asp687Asn|2154/3248|2059/3075|687/1024||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|10/17|c.2059G>A|p.Asp687Asn|2255/3444|2059/3072|687/1023||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|10/16|c.2059G>A|p.Asp687Asn|2255/6532|2059/3042|687/1013||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|10/15|c.2059G>A|p.Asp687Asn|2215/6307|2059/2850|687/949||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|10/15|c.2059G>A|p.Asp687Asn|2071/2898|2059/2847|687/948||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|9/16|c.1378G>A|p.Asp460Asn|2120/3306|1378/2391|460/796||,A|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|9/14|c.1378G>A|p.Asp460Asn|2120/3078|1378/2163|460/720||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|11/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|9/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000248933|protein_coding|10/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|11/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|9/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000404234|protein_coding|10/17|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|11/16|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|9/16|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000529632|protein_coding|10/16|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|11/15|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|9/15|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000360929|protein_coding|10/15|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|11/15|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|9/15|c.2059G>A||||||,A|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:CUB_3|ENST00000343706|protein_coding|10/15|c.2059G>A||||||
22	26743751	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|11/17|c.2279A>T|p.His760Leu|2374/3248|2279/3075|760/1024||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|11/17|c.2279A>T|p.His760Leu|2475/3444|2279/3072|760/1023||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|11/16|c.2279A>T|p.His760Leu|2475/6532|2279/3042|760/1013||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|11/15|c.2279A>T|p.His760Leu|2435/6307|2279/2850|760/949||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|11/15|c.2279A>T|p.His760Leu|2291/2898|2279/2847|760/948||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|10/16|c.1598A>T|p.His533Leu|2340/3306|1598/2391|533/796||,T|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|10/14|c.1598A>T|p.His533Leu|2340/3078|1598/2163|533/720||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000248933|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000404234|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000404234|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000404234|protein_coding|11/17|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000529632|protein_coding|11/16|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000529632|protein_coding|11/16|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000529632|protein_coding|11/16|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000360929|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000360929|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000360929|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|domain:Sushi_3|ENST00000343706|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|disulfide_bond|ENST00000343706|protein_coding|11/15|c.2279A>T||||||,T|sequence_feature|LOW|SEZ6L|ENSG00000100095|beta_strand|ENST00000343706|protein_coding|11/15|c.2279A>T||||||,T|5_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|1/5|c.-131A>T|||||3269|,T|upstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000483291|retained_intron||n.-1A>T|||||4|
22	26771580	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|15/17|c.2867A>G|p.Asn956Ser|2962/3248|2867/3075|956/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|15/17|c.2864A>G|p.Asn955Ser|3060/3444|2864/3072|955/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|14/16|c.2834A>G|p.Asn945Ser|3030/6532|2834/3042|945/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|13/15|c.2642A>G|p.Asn881Ser|2798/6307|2642/2850|881/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|13/15|c.2639A>G|p.Asn880Ser|2651/2898|2639/2847|880/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|14/16|c.2183A>G|p.Asn728Ser|2925/3306|2183/2391|728/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|12/14|c.1955A>G|p.Asn652Ser|2697/3078|1955/2163|652/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|3/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|6/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|2/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|7/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|4/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|5/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|12/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|11/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|13/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|1/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|9/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|14/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|15/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|8/17|c.2867A>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Extracellular|ENST00000248933|protein_coding|10/17|c.2867A>G||||||,G|intron_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|3/4|c.386-2059A>G||||||,G|non_coding_exon_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript|3/4|n.440A>G||||||
22	26773724	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000248933|protein_coding|16/17|c.3028C>G|p.Pro1010Ala|3123/3248|3028/3075|1010/1024||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000404234|protein_coding|16/17|c.3025C>G|p.Pro1009Ala|3221/3444|3025/3072|1009/1023||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000529632|protein_coding|15/16|c.2995C>G|p.Pro999Ala|3191/6532|2995/3042|999/1013||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000360929|protein_coding|14/15|c.2803C>G|p.Pro935Ala|2959/6307|2803/2850|935/949||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000343706|protein_coding|14/15|c.2800C>G|p.Pro934Ala|2812/2898|2800/2847|934/948||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000402979|protein_coding|15/16|c.2344C>G|p.Pro782Ala|3086/3306|2344/2391|782/796||,G|missense_variant|MODERATE|SEZ6L|ENSG00000100095|transcript|ENST00000403121|protein_coding|13/14|c.2116C>G|p.Pro706Ala|2858/3078|2116/2163|706/720||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|16/17|c.3028C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|17/17|c.3028C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000248933|protein_coding|15/17|c.3028C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|15/17|c.3025C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|16/17|c.3025C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000404234|protein_coding|17/17|c.3025C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|15/16|c.2995C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|14/16|c.2995C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000529632|protein_coding|16/16|c.2995C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|14/15|c.2803C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|15/15|c.2803C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000360929|protein_coding|13/15|c.2803C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|15/15|c.2800C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|14/15|c.2800C>G||||||,G|sequence_feature|LOW|SEZ6L|ENSG00000100095|topological_domain:Cytoplasmic|ENST00000343706|protein_coding|13/15|c.2800C>G||||||,G|3_prime_UTR_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000411842|protein_coding|4/5|c.*51C>G|||||51|,G|downstream_gene_variant|MODIFIER|SEZ6L|ENSG00000100095|transcript|ENST00000494013|processed_transcript||n.*563C>G|||||38|
22	26829954	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.373A>G|p.Lys125Glu|811/3357|373/1110|125/369||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.373A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.373A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.373A>G||||||
22	26830148	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.567A>C|p.Glu189Asp|1005/3357|567/1110|189/369||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.567A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.567A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.567A>C||||||
22	26830285	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.704A>G|p.Asn235Ser|1142/3357|704/1110|235/369||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.704A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.704A>G||||||,G|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.704A>G||||||
22	26830413	.	A	T	.	.	ANN=T|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|2/4|c.832A>T|p.Thr278Ser|1270/3357|832/1110|278/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.832A>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.832A>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.832A>T||||||
22	26838430	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|3/4|c.892A>C|p.Lys298Gln|1330/3357|892/1110|298/369||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.892A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.892A>C||||||,C|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.892A>C||||||,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471T>G|||||959|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986T>G|||||1763|
22	26839081	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.1019C>T|p.Pro340Leu|1457/3357|1019/1110|340/369||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1019C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1019C>T||||||,T|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1019C>T||||||,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471G>A|||||308|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986G>A|||||1112|
22	26839084	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ASPHD2|ENSG00000128203|transcript|ENST00000215906|protein_coding|4/4|c.1022G>A|p.Arg341Gln|1460/3357|1022/1110|341/369||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|3/4|c.1022G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|4/4|c.1022G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|topological_domain:Lumenal|ENST00000215906|protein_coding|2/4|c.1022G>A||||||,A|sequence_feature|LOW|ASPHD2|ENSG00000128203|binding_site:2-oxoglutarate|ENST00000215906|protein_coding|4/4|c.1022G>A||||||,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.*471C>T|||||305|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.*986C>T|||||1109|
22	26849285	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|13/13|c.2080G>A|p.Gly694Ser|2080/3919|2080/2166|694/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|14/14|c.2041G>A|p.Gly681Ser|2658/4497|2041/2127|681/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|12/12|c.2026G>A|p.Gly676Ser|2326/3562|2026/2112|676/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|14/14|c.2041G>A|p.Gly681Ser|2550/3786|2041/2127|681/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|13/13|n.*1613G>A|||||17514|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|12/12|n.*2372G>A|||||18052|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|14/14|n.*1559G>A|||||17514|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1G>A|||||427|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.*973G>A|||||327|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/3|n.341+4540G>A||||||,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/3|n.518+4540G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|13/13|n.*1613G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|12/12|n.*2372G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|14/14|n.*1559G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|13/13|n.4900G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|9/9|n.2565G>A||||||
22	26853833	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1986G>A|p.Met662Ile|1986/3919|1986/2166|662/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1947G>A|p.Met649Ile|2564/4497|1947/2127|649/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1932G>A|p.Met644Ile|2232/3562|1932/2112|644/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1947G>A|p.Met649Ile|2456/3786|1947/2127|649/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1519G>A|||||12966|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2278G>A|||||13504|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1465G>A|||||12966|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000491142|processed_transcript||n.-1G>A|||||4975|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4463G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.333G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.510G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1519G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2278G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1465G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4806G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.638G>A||||||
22	26853883	.	C	G	.	.	ANN=G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1936G>C|p.Val646Leu|1936/3919|1936/2166|646/721||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1897G>C|p.Val633Leu|2514/4497|1897/2127|633/708||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1882G>C|p.Val628Leu|2182/3562|1882/2112|628/703||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1897G>C|p.Val633Leu|2406/3786|1897/2127|633/708||,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1469G>C|||||12916|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2228G>C|||||13454|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1415G>C|||||12916|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4513G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.283G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.460G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1469G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2228G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1415G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4756G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.588G>C||||||
22	26853897	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1922G>A|p.Arg641His|1922/3919|1922/2166|641/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1883G>A|p.Arg628His|2500/4497|1883/2127|628/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1868G>A|p.Arg623His|2168/3562|1868/2112|623/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1883G>A|p.Arg628His|2392/3786|1883/2127|628/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1455G>A|||||12902|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2214G>A|||||13440|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1401G>A|||||12902|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4527G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.269G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.446G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1455G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2214G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1401G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4742G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.574G>A||||||
22	26853905	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|12/13|c.1914G>T|p.Gln638His|1914/3919|1914/2166|638/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|13/14|c.1875G>T|p.Gln625His|2492/4497|1875/2127|625/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|11/12|c.1860G>T|p.Gln620His|2160/3562|1860/2112|620/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|13/14|c.1875G>T|p.Gln625His|2384/3786|1875/2127|625/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1447G>T|||||12894|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2206G>T|||||13432|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1393G>T|||||12894|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-4535G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|3/4|n.261G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|3/4|n.438G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|12/13|n.*1447G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|11/12|n.*2206G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|13/14|n.*1393G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|12/13|n.4734G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|6/7|n.566G>T||||||
22	26854441	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|11/13|c.1855C>T|p.His619Tyr|1855/3919|1855/2166|619/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|12/14|c.1816C>T|p.His606Tyr|2433/4497|1816/2127|606/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|10/12|c.1801C>T|p.His601Tyr|2101/3562|1801/2112|601/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|12/14|c.1816C>T|p.His606Tyr|2325/3786|1816/2127|606/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/13|n.*1388C>T|||||12358|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/12|n.*2147C>T|||||12896|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/14|n.*1334C>T|||||12358|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/8|n.2480-5071C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|2/4|n.202C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|2/4|n.379C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|11/13|n.*1388C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|10/12|n.*2147C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|12/14|n.*1334C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|11/13|n.4675C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|5/7|n.507C>T||||||
22	26859896	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1739C>T|p.Ala580Val|1739/3919|1739/2166|580/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1700C>T|p.Ala567Val|2317/4497|1700/2127|567/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1685C>T|p.Ala562Val|1985/3562|1685/2112|562/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1700C>T|p.Ala567Val|2209/3786|1700/2127|567/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1272C>T|||||6903|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*2031C>T|||||7441|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1218C>T|||||6903|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942C>T|||||309|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>T|||||1591|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4621C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.86C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.263C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1272C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*2031C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1218C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4559C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2466C>T||||||
22	26859942	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1693G>A|p.Val565Met|1693/3919|1693/2166|565/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1654G>A|p.Val552Met|2271/4497|1654/2127|552/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1639G>A|p.Val547Met|1939/3562|1639/2112|547/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1654G>A|p.Val552Met|2163/3786|1654/2127|552/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1226G>A|||||6857|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1985G>A|||||7395|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1172G>A|||||6857|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>A|||||263|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||1545|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4575G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.40G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.217G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1226G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1985G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1172G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4513G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2420G>A||||||
22	26859956	.	C	G	.	.	ANN=G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1679G>C|p.Cys560Ser|1679/3919|1679/2166|560/721||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1640G>C|p.Cys547Ser|2257/4497|1640/2127|547/708||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1625G>C|p.Cys542Ser|1925/3562|1625/2112|542/703||,G|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1640G>C|p.Cys547Ser|2149/3786|1640/2127|547/708||,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1212G>C|||||6843|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1971G>C|||||7381|,G|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1158G>C|||||6843|,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>C|||||249|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>C|||||1531|,G|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4561G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.26G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.203G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1212G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1971G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1158G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4499G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2406G>C||||||
22	26859981	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1654G>T|p.Val552Leu|1654/3919|1654/2166|552/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1615G>T|p.Val539Leu|2232/4497|1615/2127|539/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1600G>T|p.Val534Leu|1900/3562|1600/2112|534/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1615G>T|p.Val539Leu|2124/3786|1615/2127|539/708||,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1187G>T|||||6818|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1946G>T|||||7356|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1133G>T|||||6818|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>T|||||224|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>T|||||1506|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4536G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript|1/4|n.1G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript|1/4|n.178G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*1187G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1946G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*1133G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4474G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2381G>T||||||
22	26860199	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1436G>A|p.Arg479His|1436/3919|1436/2166|479/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1397G>A|p.Arg466His|2014/4497|1397/2127|466/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1382G>A|p.Arg461His|1682/3562|1382/2112|461/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1397G>A|p.Arg466His|1906/3786|1397/2127|466/708||,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*969G>A|||||6600|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1728G>A|||||7138|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*915G>A|||||6600|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||218|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||41|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.*1942G>A|||||6|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||1288|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4318G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*969G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1728G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*915G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4256G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2163G>A||||||
22	26860236	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1399C>A|p.Pro467Thr|1399/3919|1399/2166|467/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1360C>A|p.Pro454Thr|1977/4497|1360/2127|454/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1345C>A|p.Pro449Thr|1645/3562|1345/2112|449/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1360C>A|p.Pro454Thr|1869/3786|1360/2127|454/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1414C>A|p.Pro472Thr|1911/1942|1414/1445|472/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*932C>A|||||6563|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1691C>A|||||7101|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*878C>A|||||6563|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>A|||||255|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>A|||||78|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>A|||||1251|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4281C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*932C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1691C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*878C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4219C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2126C>A||||||
22	26860269	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1366C>G|p.Leu456Val|1366/3919|1366/2166|456/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1327C>G|p.Leu443Val|1944/4497|1327/2127|443/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1312C>G|p.Leu438Val|1612/3562|1312/2112|438/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1327C>G|p.Leu443Val|1836/3786|1327/2127|443/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1381C>G|p.Leu461Val|1878/1942|1381/1445|461/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*899C>G|||||6530|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1658C>G|||||7068|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*845C>G|||||6530|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>G|||||288|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>G|||||111|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>G|||||1218|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4248C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*899C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1658C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*845C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4186C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2093C>G||||||
22	26860289	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1346A>G|p.Gln449Arg|1346/3919|1346/2166|449/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1307A>G|p.Gln436Arg|1924/4497|1307/2127|436/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1292A>G|p.Gln431Arg|1592/3562|1292/2112|431/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1307A>G|p.Gln436Arg|1816/3786|1307/2127|436/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1361A>G|p.Gln454Arg|1858/1942|1361/1445|454/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*879A>G|||||6510|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1638A>G|||||7048|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*825A>G|||||6510|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1A>G|||||308|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1A>G|||||131|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556A>G|||||1198|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4228A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*879A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1638A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*825A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4166A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.2073A>G||||||
22	26860364	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1271G>A|p.Ser424Asn|1271/3919|1271/2166|424/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1232G>A|p.Ser411Asn|1849/4497|1232/2127|411/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1217G>A|p.Ser406Asn|1517/3562|1217/2112|406/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1232G>A|p.Ser411Asn|1741/3786|1232/2127|411/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1286G>A|p.Ser429Asn|1783/1942|1286/1445|429/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*804G>A|||||6435|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1563G>A|||||6973|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*750G>A|||||6435|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||383|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||206|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||1123|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4153G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*804G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1563G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*750G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4091G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1998G>A||||||
22	26860437	.	A	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1198T>A|p.Phe400Ile|1198/3919|1198/2166|400/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1159T>A|p.Phe387Ile|1776/4497|1159/2127|387/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1144T>A|p.Phe382Ile|1444/3562|1144/2112|382/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1159T>A|p.Phe387Ile|1668/3786|1159/2127|387/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1213T>A|p.Phe405Ile|1710/1942|1213/1445|405/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*731T>A|||||6362|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1490T>A|||||6900|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*677T>A|||||6362|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>A|||||456|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>A|||||279|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>A|||||1050|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+4080T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*731T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1490T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*677T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.4018T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1925T>A||||||
22	26860535	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1100C>G|p.Ser367Cys|1100/3919|1100/2166|367/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1061C>G|p.Ser354Cys|1678/4497|1061/2127|354/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1046C>G|p.Ser349Cys|1346/3562|1046/2112|349/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1061C>G|p.Ser354Cys|1570/3786|1061/2127|354/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1115C>G|p.Ser372Cys|1612/1942|1115/1445|372/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*633C>G|||||6264|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1392C>G|||||6802|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*579C>G|||||6264|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>G|||||554|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>G|||||377|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556C>G|||||952|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3982C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*633C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1392C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*579C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3920C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1827C>G||||||
22	26860536	.	A	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.1099T>A|p.Ser367Thr|1099/3919|1099/2166|367/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.1060T>A|p.Ser354Thr|1677/4497|1060/2127|354/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.1045T>A|p.Ser349Thr|1345/3562|1045/2112|349/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.1060T>A|p.Ser354Thr|1569/3786|1060/2127|354/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1114T>A|p.Ser372Thr|1611/1942|1114/1445|372/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*632T>A|||||6263|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1391T>A|||||6801|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*578T>A|||||6263|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1T>A|||||555|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1T>A|||||378|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556T>A|||||951|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3981T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*632T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1391T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*578T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3919T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1826T>A||||||
22	26860650	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|10/13|c.985G>A|p.Glu329Lys|985/3919|985/2166|329/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|11/14|c.946G>A|p.Glu316Lys|1563/4497|946/2127|316/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|9/12|c.931G>A|p.Glu311Lys|1231/3562|931/2112|311/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|11/14|c.946G>A|p.Glu316Lys|1455/3786|946/2127|316/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|12/12|c.1000G>A|p.Glu334Lys|1497/1942|1000/1445|334/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*518G>A|||||6149|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1277G>A|||||6687|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*464G>A|||||6149|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1G>A|||||669|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1G>A|||||492|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556G>A|||||837|,T|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3867G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|10/13|n.*518G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|9/12|n.*1277G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|11/14|n.*464G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|10/13|n.3805G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|8/9|n.1712G>A||||||
22	26861473	.	T	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.790A>T|p.Thr264Ser|790/3919|790/2166|264/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.751A>T|p.Thr251Ser|1368/4497|751/2127|251/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.736A>T|p.Thr246Ser|1036/3562|736/2112|246/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.751A>T|p.Thr251Ser|1260/3786|751/2127|251/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.805A>T|p.Thr269Ser|1302/1942|805/1445|269/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*323A>T|||||5326|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1082A>T|||||5864|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*269A>T|||||5326|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1A>T|||||1492|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1A>T|||||1315|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.*556A>T|||||14|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3044A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*323A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1082A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*269A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3610A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1517A>T||||||
22	26861514	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|9/13|c.749C>T|p.Ala250Val|749/3919|749/2166|250/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|10/14|c.710C>T|p.Ala237Val|1327/4497|710/2127|237/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|8/12|c.695C>T|p.Ala232Val|995/3562|695/2112|232/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|10/14|c.710C>T|p.Ala237Val|1219/3786|710/2127|237/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|11/12|c.764C>T|p.Ala255Val|1261/1942|764/1445|255/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*282C>T|||||5285|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1041C>T|||||5823|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*228C>T|||||5285|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||1533|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||1356|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+3003C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|9/13|n.*282C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*1041C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|10/14|n.*228C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|9/13|n.3569C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.1476C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|8/8|n.529C>T||||||
22	26862212	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/13|c.671A>G|p.Glu224Gly|671/3919|671/2166|224/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/14|c.686A>G|p.Glu229Gly|1303/4497|686/2127|229/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/12|c.671A>G|p.Glu224Gly|971/3562|671/2112|224/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/14|c.686A>G|p.Glu229Gly|1195/3786|686/2127|229/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/12|c.686A>G|p.Glu229Gly|1183/1942|686/1445|229/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*204A>G|||||4587|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*343A>G|||||5125|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*204A>G|||||4587|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1A>G|||||2231|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1A>G|||||2054|,C|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2305A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*204A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*343A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*204A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/13|n.3545A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.778A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/8|n.505A>G||||||
22	26862218	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|7/13|c.665C>T|p.Thr222Met|665/3919|665/2166|222/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|9/14|c.680C>T|p.Thr227Met|1297/4497|680/2127|227/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|7/12|c.665C>T|p.Thr222Met|965/3562|665/2112|222/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|9/14|c.680C>T|p.Thr227Met|1189/3786|680/2127|227/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|9/12|c.680C>T|p.Thr227Met|1177/1942|680/1445|227/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*198C>T|||||4581|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*337C>T|||||5119|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*198C>T|||||4581|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000519774|processed_transcript||n.-1C>T|||||2237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000493455|processed_transcript||n.-1C>T|||||2060|,A|intron_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|4/6|n.404+2299C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|7/13|n.*198C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|8/12|n.*337C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|9/14|n.*198C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|8/13|n.3539C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|7/9|n.772C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|7/8|n.499C>T||||||
22	26866688	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.578G>A|p.Gly193Glu|578/3919|578/2166|193/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.593G>A|p.Gly198Glu|1210/4497|593/2127|198/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.578G>A|p.Gly193Glu|878/3562|578/2112|193/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.593G>A|p.Gly198Glu|1102/3786|593/2127|198/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.593G>A|p.Gly198Glu|1090/1942|593/1445|198/480||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*111G>A|||||111|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*250G>A|||||649|,T|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*111G>A|||||111|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>A|||||4648|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*111G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*250G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*111G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1164G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.685G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.328G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.412G>A||||||
22	26866718	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.548A>G|p.His183Arg|548/3919|548/2166|183/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.563A>G|p.His188Arg|1180/4497|563/2127|188/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.548A>G|p.His183Arg|848/3562|548/2112|183/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.563A>G|p.His188Arg|1072/3786|563/2127|188/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.563A>G|p.His188Arg|1060/1942|563/1445|188/480||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*81A>G|||||81|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*220A>G|||||619|,C|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*81A>G|||||81|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914A>G|||||4618|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*81A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*220A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*81A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1134A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.655A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.298A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.382A>G||||||
22	26866724	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.542C>T|p.Ser181Leu|542/3919|542/2166|181/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.557C>T|p.Ser186Leu|1174/4497|557/2127|186/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.542C>T|p.Ser181Leu|842/3562|542/2112|181/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.557C>T|p.Ser186Leu|1066/3786|557/2127|186/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.557C>T|p.Ser186Leu|1054/1942|557/1445|186/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*75C>T|||||75|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*214C>T|||||613|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*75C>T|||||75|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>T|||||4612|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*75C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*214C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*75C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1128C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.649C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.292C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.376C>T||||||
22	26866738	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|5/13|c.528G>T|p.Gln176His|528/3919|528/2166|176/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|7/14|c.543G>T|p.Gln181His|1160/4497|543/2127|181/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|5/12|c.528G>T|p.Gln176His|828/3562|528/2112|176/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|7/14|c.543G>T|p.Gln181His|1052/3786|543/2127|181/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|7/12|c.543G>T|p.Gln181His|1040/1942|543/1445|181/480||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*61G>T|||||61|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*200G>T|||||599|,A|3_prime_UTR_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*61G>T|||||61|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>T|||||4598|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|5/13|n.*61G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|6/12|n.*200G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|7/14|n.*61G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|7/13|n.1114G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|5/9|n.635G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|3/7|n.278G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|5/8|n.362G>T||||||
22	26868324	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|4/13|c.430A>G|p.Asn144Asp|430/3919|430/2166|144/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|6/14|c.445A>G|p.Asn149Asp|1062/4497|445/2127|149/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|4/12|c.430A>G|p.Asn144Asp|730/3562|430/2112|144/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|6/14|c.445A>G|p.Asn149Asp|954/3786|445/2127|149/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|6/12|c.445A>G|p.Asn149Asp|942/1942|445/1445|149/480||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914A>G|||||3012|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737A>G|||||4633|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|4/13|n.430A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|4/12|n.430A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|6/14|n.445A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|6/13|n.1016A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|4/9|n.537A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|2/7|n.180A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|3/8|n.188A>G||||||
22	26868359	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|4/13|c.395C>T|p.Thr132Met|395/3919|395/2166|132/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|6/14|c.410C>T|p.Thr137Met|1027/4497|410/2127|137/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|4/12|c.395C>T|p.Thr132Met|695/3562|395/2112|132/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|6/14|c.410C>T|p.Thr137Met|919/3786|410/2127|137/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|6/12|c.410C>T|p.Thr137Met|907/1942|410/1445|137/480||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>T|||||2977|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737C>T|||||4598|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|4/13|n.395C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|4/12|n.395C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|6/14|n.410C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|6/13|n.981C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|4/9|n.502C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|2/7|n.145C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|3/8|n.153C>T||||||
22	26868809	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|3/13|c.358C>G|p.Leu120Val|358/3919|358/2166|120/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|5/14|c.373C>G|p.Leu125Val|990/4497|373/2127|125/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|3/12|c.358C>G|p.Leu120Val|658/3562|358/2112|120/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|5/14|c.373C>G|p.Leu125Val|882/3786|373/2127|125/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|5/12|c.373C>G|p.Leu125Val|870/1942|373/1445|125/480||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914C>G|||||2527|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737C>G|||||4148|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|3/13|n.358C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|3/12|n.358C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|5/14|n.373C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|5/13|n.944C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|3/9|n.465C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|1/7|n.108C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|2/8|n.116C>G||||||
22	26868862	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|3/13|c.305G>A|p.Arg102Gln|305/3919|305/2166|102/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|5/14|c.320G>A|p.Arg107Gln|937/4497|320/2127|107/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|3/12|c.305G>A|p.Arg102Gln|605/3562|305/2112|102/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|5/14|c.320G>A|p.Arg107Gln|829/3786|320/2127|107/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|5/12|c.320G>A|p.Arg107Gln|817/1942|320/1445|107/480||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.*1914G>A|||||2474|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.*737G>A|||||4095|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|3/13|n.305G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|3/12|n.305G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|5/14|n.320G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|5/13|n.891G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|3/9|n.412G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron|1/7|n.55G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript|2/8|n.63G>A||||||
22	26872985	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/13|c.235A>G|p.Ile79Val|235/3919|235/2166|79/721||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/14|c.250A>G|p.Ile84Val|867/4497|250/2127|84/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/12|c.235A>G|p.Ile79Val|535/3562|235/2112|79/703||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/14|c.250A>G|p.Ile84Val|759/3786|250/2127|84/708||,C|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/12|c.250A>G|p.Ile84Val|747/1942|250/1445|84/480||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1A>G|||||4069|,C|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1A>G|||||8|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697A>G|||||4816|,C|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575A>G|||||4839|,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/13|n.235A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/12|n.235A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/14|n.250A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/13|n.821A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/9|n.342A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|2/2|n.265A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|3/3|n.709A>G||||||
22	26873006	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/13|c.214C>A|p.Leu72Met|214/3919|214/2166|72/721||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/14|c.229C>A|p.Leu77Met|846/4497|229/2127|77/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/12|c.214C>A|p.Leu72Met|514/3562|214/2112|72/703||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/14|c.229C>A|p.Leu77Met|738/3786|229/2127|77/708||,T|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/12|c.229C>A|p.Leu77Met|726/1942|229/1445|77/480||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1C>A|||||4090|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1C>A|||||29|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697C>A|||||4795|,T|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575C>A|||||4818|,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/13|n.214C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/12|n.214C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/14|n.229C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/13|n.800C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/9|n.321C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|2/2|n.244C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|3/3|n.688C>A||||||
22	26873051	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding|2/13|c.169C>T|p.Arg57Cys|169/3919|169/2166|57/721||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|4/14|c.184C>T|p.Arg62Cys|801/4497|184/2127|62/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding|2/12|c.169C>T|p.Arg57Cys|469/3562|169/2112|57/703||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|4/14|c.184C>T|p.Arg62Cys|693/3786|184/2127|62/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|4/12|c.184C>T|p.Arg62Cys|681/1942|184/1445|62/480||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000485842|retained_intron||n.-1C>T|||||4135|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1C>T|||||74|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697C>T|||||4750|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575C>T|||||4773|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay|2/13|n.169C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay|2/12|n.169C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|4/14|n.184C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|4/13|n.755C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron|2/9|n.276C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron|2/2|n.199C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|3/3|n.643C>T||||||
22	26877706	.	T	A	.	.	ANN=A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding|2/14|c.23A>T|p.Glu8Val|640/4497|23/2127|8/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding|2/14|c.23A>T|p.Glu8Val|532/3786|23/2127|8/708||,A|missense_variant|MODERATE|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding|2/12|c.23A>T|p.Glu8Val|520/1942|23/1445|8/480||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398141|protein_coding||c.-1A>T|||||2359|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.-15T>A|||||2137|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000429411|nonsense_mediated_decay||n.-68A>T|||||2292|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000464362|nonsense_mediated_decay||n.-166A>T|||||2194|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000402105|protein_coding||c.-301A>T|||||2059|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000496385|retained_intron||n.-1A>T|||||2252|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000459918|processed_transcript||n.-1A>T|||||4729|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000481910|retained_intron||n.-1A>T|||||2329|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.*697A>T|||||95|,A|downstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.*575A>T|||||118|,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay|2/14|n.23A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron|2/13|n.594A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript|2/3|n.573A>T||||||
22	26884039	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/7|c.295G>A|p.Ala99Thr|309/4020|295/1020|99/339||,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618C>T|||||4261|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510C>T|||||4278|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551C>T|||||4237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1C>T|||||4236|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498C>T|||||4290|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1C>T|||||4237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1C>T|||||4237|,A|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1C>T|||||4245|,A|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1G>A|||||2700|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869C>T|||||3913|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798C>T|||||3152|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923C>T|||||3854|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888C>T|||||3854|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703C>T|||||3854|,A|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/4|n.92G>A||||||
22	26884042	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|3/7|c.298C>T|p.Pro100Ser|312/4020|298/1020|100/339||,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000398145|protein_coding||c.-618G>A|||||4264|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000336873|protein_coding||c.-510G>A|||||4281|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000439453|nonsense_mediated_decay||n.-551G>A|||||4240|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000466781|retained_intron||n.-1G>A|||||4239|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000422379|protein_coding||c.-498G>A|||||4293|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000483631|processed_transcript||n.-1G>A|||||4240|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000479064|processed_transcript||n.-1G>A|||||4240|,T|upstream_gene_variant|MODIFIER|HPS4|ENSG00000100099|transcript|ENST00000473782|processed_transcript||n.-1G>A|||||4248|,T|upstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.-1C>T|||||2697|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869G>A|||||3910|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding||c.*2798G>A|||||3149|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923G>A|||||3851|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888G>A|||||3851|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703G>A|||||3851|,T|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron|1/4|n.95C>T||||||
22	26887510	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.892T>G|p.Phe298Val|906/4020|892/1020|298/339||,G|3_prime_UTR_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|15/15|c.*469A>C|||||469|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding||c.*2869A>C|||||442|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607T>G|||||474|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.*923A>C|||||383|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding||c.*2888A>C|||||383|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding||c.*2703A>C|||||383|,G|non_coding_exon_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron|2/2|n.380T>G||||||
22	26890155	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|15/16|c.2108A>G|p.Lys703Arg|2463/2896|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|14/15|c.2108A>G|p.Lys703Arg|2392/3586|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|13/14|c.2108A>G|p.Lys703Arg|2482/2974|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|13/14|c.2108A>G|p.Lys703Arg|2297/2789|2108/2514|703/837||,C|sequence_feature|LOW|TFIP11|ENSG00000100109|short_sequence_motif:Nuclear_localization_signal|ENST00000407148|protein_coding|13/14|c.2108A>G||||||,C|3_prime_UTR_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding|7/7|c.*2517T>C|||||2517|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000477945|retained_intron||n.*607T>C|||||3119|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668T>C|||||2357|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||4514|,C|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron|1/2|n.431A>G||||||
22	26892752	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/16|c.1540A>G|p.Ile514Val|1895/2896|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/15|c.1540A>G|p.Ile514Val|1824/3586|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/14|c.1540A>G|p.Ile514Val|1914/2974|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/14|c.1540A>G|p.Ile514Val|1729/2789|1540/2514|514/837||,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||2167|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||2128|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668T>C|||||4954|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||1917|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>G|||||2628|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||2751|
22	26892763	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/16|c.1529G>C|p.Ser510Thr|1884/2896|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/15|c.1529G>C|p.Ser510Thr|1813/3586|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/14|c.1529G>C|p.Ser510Thr|1903/2974|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/14|c.1529G>C|p.Ser510Thr|1718/2789|1529/2514|510/837||,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>C|||||2178|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>G|||||2139|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000471799|retained_intron||n.*668C>G|||||4965|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561G>C|||||1906|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>C|||||2617|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>C|||||2740|
22	26892844	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|12/16|c.1448A>G|p.Glu483Gly|1803/2896|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|11/15|c.1448A>G|p.Glu483Gly|1732/3586|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|10/14|c.1448A>G|p.Glu483Gly|1822/2974|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|10/14|c.1448A>G|p.Glu483Gly|1637/2789|1448/2514|483/837||,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>G|||||2259|,C|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>C|||||2220|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.*561A>G|||||1825|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>G|||||2536|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>G|||||2659|
22	26895128	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1271C>T|p.Ala424Val|1626/2896|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1271C>T|p.Ala424Val|1555/3586|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1271C>T|p.Ala424Val|1645/2974|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1271C>T|p.Ala424Val|1460/2789|1271/2514|424/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4543|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4504|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||252|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||375|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2874|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.230C>T||||||
22	26895204	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1195G>A|p.Glu399Lys|1550/2896|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1195G>A|p.Glu399Lys|1479/3586|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1195G>A|p.Glu399Lys|1569/2974|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1195G>A|p.Glu399Lys|1384/2789|1195/2514|399/837||,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4619|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4580|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||176|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||299|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||2798|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.154G>A||||||
22	26895227	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1172G>A|p.Cys391Tyr|1527/2896|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1172G>A|p.Cys391Tyr|1456/3586|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1172G>A|p.Cys391Tyr|1546/2974|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1172G>A|p.Cys391Tyr|1361/2789|1172/2514|391/837||,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4642|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4603|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571G>A|||||153|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572G>A|||||276|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||2775|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.131G>A||||||
22	26895246	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1153C>T|p.Arg385Trp|1508/2896|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1153C>T|p.Arg385Trp|1437/3586|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1153C>T|p.Arg385Trp|1527/2974|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1153C>T|p.Arg385Trp|1342/2789|1153/2514|385/837||,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1C>T|||||4661|,A|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034G>A|||||4622|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572C>T|||||257|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555C>T|||||2756|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.112C>T||||||
22	26895248	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1151A>C|p.Glu384Ala|1506/2896|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1151A>C|p.Glu384Ala|1435/3586|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1151A>C|p.Glu384Ala|1525/2974|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1151A>C|p.Glu384Ala|1340/2789|1151/2514|384/837||,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>C|||||4663|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>G|||||4624|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.*571A>C|||||132|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>C|||||255|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555A>C|||||2754|,G|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron|1/2|n.110A>C||||||
22	26895387	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.1012A>C|p.Asn338His|1367/2896|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.1012A>C|p.Asn338His|1296/3586|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.1012A>C|p.Asn338His|1386/2974|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.1012A>C|p.Asn338His|1201/2789|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.562A>C|p.Asn188His|564/571|562/569|188/188||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1A>C|||||4802|,G|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1A>C|||||30|,G|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034T>G|||||4763|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.*572A>C|||||116|,G|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555A>C|||||2615|
22	26895517	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.882T>A|p.Asp294Glu|1237/2896|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.882T>A|p.Asp294Glu|1166/3586|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.882T>A|p.Asp294Glu|1256/2974|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.882T>A|p.Asp294Glu|1071/2789|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.432T>A|p.Asp144Glu|434/571|432/569|144/188||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1T>A|||||4932|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1T>A|||||160|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034A>T|||||4893|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555T>A|||||2485|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|4/4|n.558T>A||||||
22	26895528	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|10/16|c.871G>A|p.Val291Ile|1226/2896|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|9/15|c.871G>A|p.Val291Ile|1155/3586|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|8/14|c.871G>A|p.Val291Ile|1245/2974|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|8/14|c.871G>A|p.Val291Ile|1060/2789|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding|4/4|c.421G>A|p.Val141Ile|423/571|421/569|141/188||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000492137|retained_intron||n.-1G>A|||||4943|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000481357|retained_intron||n.-1G>A|||||171|,T|downstream_gene_variant|MODIFIER|SRRD|ENSG00000100104|transcript|ENST00000215917|protein_coding||c.*1034C>T|||||4904|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.*555G>A|||||2474|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript|4/4|n.547G>A||||||
22	26902371	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|7/16|c.418A>G|p.Met140Val|773/2896|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|6/15|c.418A>G|p.Met140Val|702/3586|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|5/14|c.418A>G|p.Met140Val|792/2974|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|5/14|c.418A>G|p.Met140Val|607/2789|418/2514|140/837||,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3A>G|||||73|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1A>G|||||300|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron||n.*749A>G|||||268|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron||n.*571A>G|||||333|,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding||c.*638A>G|||||369|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563A>G|||||469|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525A>G|||||473|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595A>G|||||3740|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron|1/3|n.308A>G||||||
22	26902835	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|6/16|c.269C>T|p.Ala90Val|624/2896|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|5/15|c.269C>T|p.Ala90Val|553/3586|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|4/14|c.269C>T|p.Ala90Val|643/2974|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|4/14|c.269C>T|p.Ala90Val|458/2789|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|6/6|c.269C>T|p.Ala90Val|543/638|269/364|90/120||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||537|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||764|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||157|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding||c.*563C>T|||||5|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding||c.*525C>T|||||9|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>T|||||3276|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||4820|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|5/5|n.553C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|4/4|n.440C>T||||||
22	26902890	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|6/16|c.214C>T|p.Arg72Cys|569/2896|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|5/15|c.214C>T|p.Arg72Cys|498/3586|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|4/14|c.214C>T|p.Arg72Cys|588/2974|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|4/14|c.214C>T|p.Arg72Cys|403/2789|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|6/6|c.214C>T|p.Arg72Cys|488/638|214/364|72/120||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|6/6|c.214C>T|p.Arg72Cys|513/563|214/264|72/87||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|5/5|c.214C>T|p.Arg72Cys|479/525|214/260|72/85||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||592|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||819|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||212|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding||c.*595C>T|||||3221|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||4765|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|5/5|n.498C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|4/4|n.385C>T||||||
22	26906159	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.80C>T|p.Thr27Ile|435/2896|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.80C>T|p.Thr27Ile|364/3586|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.80C>T|p.Thr27Ile|454/2974|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.80C>T|p.Thr27Ile|269/2789|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.80C>T|p.Thr27Ile|354/638|80/364|27/120||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.80C>T|p.Thr27Ile|379/563|80/264|27/87||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.80C>T|p.Thr27Ile|345/525|80/260|27/85||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding|5/5|c.80C>T|p.Thr27Ile|547/595|80/128|27/41||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_interaction_with_DHX15|ENST00000407148|protein_coding|3/14|c.80C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1G>A|||||2344|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3C>T|||||3861|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1C>T|||||4088|,A|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1C>T|||||3481|,A|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1G>A|||||2362|,A|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589C>T|||||1496|,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.364C>T||||||,A|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.251C>T||||||
22	26906216	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000405938|protein_coding|5/16|c.23G>A|p.Arg8Gln|378/2896|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407690|protein_coding|4/15|c.23G>A|p.Arg8Gln|307/3586|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407431|protein_coding|3/14|c.23G>A|p.Arg8Gln|397/2974|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000407148|protein_coding|3/14|c.23G>A|p.Arg8Gln|212/2789|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000455080|protein_coding|5/6|c.23G>A|p.Arg8Gln|297/638|23/364|8/120||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000418876|protein_coding|5/6|c.23G>A|p.Arg8Gln|322/563|23/264|8/87||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000420242|protein_coding|4/5|c.23G>A|p.Arg8Gln|288/525|23/260|8/85||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TFIP11|ENSG00000100109|transcript|ENST00000440258|protein_coding|5/5|c.23G>A|p.Arg8Gln|490/595|23/128|8/41||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TFIP11|ENSG00000100109|region_of_interest:Required_for_interaction_with_DHX15|ENST00000407148|protein_coding|3/14|c.23G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000566814|antisense||n.-1C>T|||||2287|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000450493|protein_coding||c.-3G>A|||||3918|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000496523|processed_transcript||n.-1G>A|||||4145|,T|upstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000493698|retained_intron||n.-1G>A|||||3538|,T|upstream_gene_variant|MODIFIER|CTA-445C9.14|ENSG00000261188|transcript|ENST00000565764|antisense||n.-1C>T|||||2305|,T|downstream_gene_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000464449|retained_intron||n.*589G>A|||||1439|,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000479489|retained_intron|4/5|n.307G>A||||||,T|non_coding_exon_variant|MODIFIER|TFIP11|ENSG00000100109|transcript|ENST00000472918|retained_intron|3/4|n.194G>A||||||
22	26936804	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.793C>T|p.Leu265Phe|1064/2188|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.793C>T|p.Leu265Phe|1098/1968|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.793C>T|p.Leu265Phe|1214/2084|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/2|c.34C>T|p.Leu12Phe|34/675|34/507|12/168||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.793C>T||||||,A|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.793C>T||||||,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586C>T|||||368|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582C>T|||||433|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544C>T|||||601|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514C>T|||||647|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544C>T|||||652|WARNING_TRANSCRIPT_NO_STOP_CODON
22	26936828	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.769G>A|p.Gly257Ser|1040/2188|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.769G>A|p.Gly257Ser|1074/1968|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.769G>A|p.Gly257Ser|1190/2084|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding|1/2|c.10G>A|p.Gly4Ser|10/675|10/507|4/168||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.769G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.769G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.769G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.769G>A||||||,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||344|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||409|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||577|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||623|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||628|WARNING_TRANSCRIPT_NO_STOP_CODON
22	26937049	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.548G>A|p.Arg183Gln|819/2188|548/1134|183/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.548G>A|p.Arg183Gln|853/1968|548/1134|183/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.548G>A|p.Arg183Gln|969/2084|548/1134|183/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.548G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.548G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.548G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.548G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||212|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||123|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||188|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||356|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||402|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||407|WARNING_TRANSCRIPT_NO_STOP_CODON
22	26937139	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.458G>A|p.Arg153His|729/2188|458/1134|153/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.458G>A|p.Arg153His|763/1968|458/1134|153/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.458G>A|p.Arg153His|879/2084|458/1134|153/377||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|beta_strand|ENST00000398110|protein_coding|3/7|c.458G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|disulfide_bond|ENST00000398110|protein_coding|3/7|c.458G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||302|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding||c.*586G>A|||||33|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding||c.*582G>A|||||98|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||266|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||312|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||317|WARNING_TRANSCRIPT_NO_STOP_CODON
22	26937244	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000338754|protein_coding|3/7|c.353G>A|p.Arg118His|624/2188|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000398110|protein_coding|3/7|c.353G>A|p.Arg118His|658/1968|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding|4/8|c.353G>A|p.Arg118His|774/2084|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000442495|protein_coding|2/2|c.353G>A|p.Arg118His|514/586|353/425|118/140||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TPST2|ENSG00000128294|transcript|ENST00000454778|protein_coding|3/3|c.353G>A|p.Arg118His|575/582|353/360|118/119||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|4/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|5/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|3/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|topological_domain:Lumenal|ENST00000398110|protein_coding|6/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|disulfide_bond|ENST00000398110|protein_coding|3/7|c.353G>A||||||,T|sequence_feature|LOW|TPST2|ENSG00000128294|helix|ENST00000398110|protein_coding|3/7|c.353G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000445720|protein_coding||c.-1G>A|||||407|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000440953|protein_coding||c.*544G>A|||||161|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000453117|protein_coding||c.*514G>A|||||207|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000450022|protein_coding||c.*544G>A|||||212|WARNING_TRANSCRIPT_NO_STOP_CODON
22	26995462	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.751C>T|p.Pro251Ser|882/1102|751/759|251/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:C-terminal_arm|ENST00000215939|protein_coding|6/6|c.751C>T||||||,A|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422C>T|||||2781|
22	26995524	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.689G>A|p.Arg230His|820/1102|689/759|230/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|5/6|c.689G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|6/6|c.689G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|6/6|c.689G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422G>A|||||2843|
22	26995572	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|6/6|c.641G>A|p.Arg214Gln|772/1102|641/759|214/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|5/6|c.641G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_4|ENST00000215939|protein_coding|6/6|c.641G>A||||||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|6/6|c.641G>A||||||,T|upstream_gene_variant|MODIFIER|TPST2|ENSG00000128294|transcript|ENST00000403880|protein_coding||c.-422G>A|||||2891|
22	26997874	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|5/6|c.544C>T|p.Arg182Cys|675/1102|544/759|182/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_3|ENST00000215939|protein_coding|5/6|c.544C>T||||||
22	27003902	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/6|c.383C>T|p.Ser128Leu|514/1102|383/759|128/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.383C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.383C>T||||||
22	27003957	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|4/6|c.328C>T|p.Arg110Cys|459/1102|328/759|110/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|3/6|c.328C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_2|ENST00000215939|protein_coding|4/6|c.328C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|4/6|c.328C>T||||||
22	27008121	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|3/6|c.214C>T|p.Arg72Cys|345/1102|214/759|72/252||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|3/6|c.214C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000215939|protein_coding|2/6|c.214C>T||||||,A|sequence_feature|LOW|CRYBB1|ENSG00000100122|beta_strand|ENST00000215939|protein_coding|3/6|c.214C>T||||||
22	27012132	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/6|c.152C>A|p.Ala51Glu|283/1102|152/759|51/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:N-terminal_arm|ENST00000215939|protein_coding|2/6|c.152C>A||||||
22	27012210	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRYBB1|ENSG00000100122|transcript|ENST00000215939|protein_coding|2/6|c.74G>A|p.Gly25Glu|205/1102|74/759|25/252||,T|sequence_feature|LOW|CRYBB1|ENSG00000100122|region_of_interest:N-terminal_arm|ENST00000215939|protein_coding|2/6|c.74G>A||||||
22	27019219	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.61G>A|p.Gly21Ser|96/811|61/591|21/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.61G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.61G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|helix|ENST00000354760|protein_coding|3/6|c.61G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+620G>A||||||
22	27019235	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.77G>A|p.Arg26Gln|112/811|77/591|26/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.77G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.77G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|beta_strand|ENST00000354760|protein_coding|3/6|c.77G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+636G>A||||||
22	27019264	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|3/6|c.106G>A|p.Val36Met|141/811|106/591|36/196||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|2/6|c.106G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|domain:Beta/gamma_crystallin_'Greek_key'_1|ENST00000354760|protein_coding|3/6|c.106G>A||||||,A|sequence_feature|LOW|CRYBA4|ENSG00000196431|helix|ENST00000354760|protein_coding|3/6|c.106G>A||||||,A|intron_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|2/4|n.55+665G>A||||||
22	27024258	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRYBA4|ENSG00000196431|transcript|ENST00000354760|protein_coding|5/6|c.307C>T|p.Arg103Cys|342/811|307/591|103/196||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|5/6|c.307C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|region_of_interest:Connecting_peptide|ENST00000354760|protein_coding|4/6|c.307C>T||||||,T|sequence_feature|LOW|CRYBA4|ENSG00000196431|helix|ENST00000354760|protein_coding|5/6|c.307C>T||||||,T|non_coding_exon_variant|MODIFIER|CRYBA4|ENSG00000196431|transcript|ENST00000466315|processed_transcript|4/5|n.204C>T||||||
22	28146947	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|2/2|c.3919G>A|p.Asp1307Asn|4874/7556|3919/3963|1307/1320||,T|non_coding_exon_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay|2/3|n.271G>A||||||,T|non_coding_exon_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000497225|processed_transcript|2/2|n.275G>A||||||
22	28192982	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3550G>C|p.Glu1184Gln|4505/7556|3550/3963|1184/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>C|||||98|
22	28193245	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3287C>T|p.Pro1096Leu|4242/7556|3287/3963|1096/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>T|||||361|
22	28193458	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.3074T>C|p.Ile1025Thr|4029/7556|3074/3963|1025/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2T>C|||||574|
22	28193591	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.2941G>T|p.Ala981Ser|3896/7556|2941/3963|981/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||707|
22	28195186	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1346C>G|p.Pro449Arg|2301/7556|1346/3963|449/1320||,C|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2C>G|||||2302|
22	28195386	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.1146G>T|p.Gln382His|2101/7556|1146/3963|382/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||2502|
22	28195715	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.817G>T|p.Ala273Ser|1772/7556|817/3963|273/1320||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>T|||||2831|
22	28196248	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.284A>G|p.Gln95Arg|1239/7556|284/3963|95/1320||,C|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2A>G|||||3364|
22	28196290	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.242G>C|p.Gly81Ala|1197/7556|242/3963|81/1320||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>C|||||3406|
22	28196476	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MN1|ENSG00000169184|transcript|ENST00000302326|protein_coding|1/2|c.56G>A|p.Gly19Asp|1011/7556|56/3963|19/1320||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|transcript|ENST00000424656|nonsense_mediated_decay||n.-2G>A|||||3592|
22	28307000	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000455418|protein_coding|3/12|c.155A>C|p.Lys52Thr|155/2852|155/822|52/273||,G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000335272|protein_coding|3/12|c.149A>C|p.Lys50Thr|226/2926|149/816|50/271||,G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000320996|protein_coding|3/11|c.149A>C|p.Lys50Thr|213/2826|149/819|50/272||,G|missense_variant|MODERATE|PITPNB|ENSG00000180957|transcript|ENST00000436663|protein_coding|3/8|c.155A>C|p.Lys52Thr|242/590|155/503|52/166||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000415296|protein_coding|3/9|c.-71A>C|||||13142|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000460566|retained_intron|3/5|n.214A>C||||||,G|non_coding_exon_variant|MODIFIER|PITPNB|ENSG00000180957|transcript|ENST00000471825|retained_intron|3/3|n.202A>C||||||
22	29091147	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|13/16|c.1472T>G|p.Ile491Ser|1548/1971|1472/1761|491/586||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|7/10|c.539T>G|p.Ile180Ser|541/984|539/828|180/275||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|11/14|c.1256T>G|p.Ile419Ser|1328/1771|1256/1545|419/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|10/13|c.1070T>G|p.Ile357Ser|1142/1585|1070/1359|357/452||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|13/16|c.680T>G|p.Ile227Ser|2117/2560|680/969|227/322||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|11/14|c.1343T>G|p.Ile448Ser|1343/1785|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|12/15|c.1343T>G|p.Ile448Ser|1425/1867|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|13/16|c.1343T>G|p.Ile448Ser|1535/1959|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|10/13|c.1256T>G|p.Ile419Ser|1256/1545|1256/1545|419/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|9/12|c.1070T>G|p.Ile357Ser|1070/1359|1070/1359|357/452||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1472T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1343T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.1070T>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.1070T>G||||||,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|11/14|c.*411T>G|||||4755|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|13/16|n.*833T>G|||||26441|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|10/13|n.*640T>G|||||16839|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|10/13|n.*411T>G|||||4755|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|11/14|n.*735T>G|||||24311|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding||c.*903T>G|||||1739|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.*530T>G|||||1743|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript||n.*425T>G|||||1764|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron||n.*609T>G|||||1785|,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.*752T>G|||||1809|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.*174T>G|||||4605|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+4679T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-5893T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|13/16|n.*833T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|10/13|n.*640T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|10/13|n.*411T>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|11/14|n.*735T>G||||||
22	29091803	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|12/16|c.1283G>A|p.Cys428Tyr|1359/1971|1283/1761|428/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000434810|protein_coding|6/10|c.383G>A|p.Cys128Tyr|385/984|383/828|128/275||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|10/14|c.1067G>A|p.Cys356Tyr|1139/1771|1067/1545|356/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|9/13|c.881G>A|p.Cys294Tyr|953/1585|881/1359|294/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|12/16|c.491G>A|p.Cys164Tyr|1928/2560|491/969|164/322||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|10/14|c.1154G>A|p.Cys385Tyr|1154/1785|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|11/15|c.1154G>A|p.Cys385Tyr|1236/1867|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|12/16|c.1154G>A|p.Cys385Tyr|1346/1959|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|9/13|c.1067G>A|p.Cys356Tyr|1067/1545|1067/1545|356/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|8/12|c.881G>A|p.Cys294Tyr|881/1359|881/1359|294/452||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000382580|protein_coding|12/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000382580|protein_coding|12/16|c.1283G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000404276|protein_coding|10/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000404276|protein_coding|10/14|c.1154G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000402731|protein_coding|9/13|c.1067G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000402731|protein_coding|9/13|c.1067G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|region_of_interest:T-loop/activation_segment|ENST00000403642|protein_coding|8/12|c.881G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|helix|ENST00000403642|protein_coding|8/12|c.881G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|10/14|c.*222G>A|||||4099|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|12/16|n.*644G>A|||||25785|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|9/13|n.*451G>A|||||16183|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|9/13|n.*222G>A|||||4099|,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|10/14|n.*546G>A|||||23655|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding||c.*903G>A|||||1083|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.*530G>A|||||1087|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000464581|processed_transcript||n.*425G>A|||||1108|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000491919|retained_intron||n.*609G>A|||||1129|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.*752G>A|||||1153|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay||n.*174G>A|||||3949|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000456369|protein_coding|4/5|c.261+4023G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.320-6549G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|12/16|n.*644G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|9/13|n.*451G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|9/13|n.*222G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|10/14|n.*546G>A||||||
22	29115403	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|6/16|c.792C>G|p.Ile264Met|868/1971|792/1761|264/586||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|5/14|c.663C>G|p.Ile221Met|735/1771|663/1545|221/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|5/14|c.663C>G|p.Ile221Met|735/1796|663/870|221/289||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|3/13|c.390C>G|p.Ile130Met|462/1585|390/1359|130/452||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|4/14|c.663C>G|p.Ile221Met|663/1785|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|5/15|c.663C>G|p.Ile221Met|745/1867|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|6/16|c.663C>G|p.Ile221Met|855/1959|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|4/13|c.663C>G|p.Ile221Met|663/1545|663/1545|221/514||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|2/12|c.390C>G|p.Ile130Met|390/1359|390/1359|130/452||,C|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|6/7|c.756C>G|p.Ile252Met|777/906|756/885|252/294||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|6/16|c.-1C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|4/9|c.-1C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|8/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|9/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|10/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|13/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|12/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|7/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|6/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|14/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000382580|protein_coding|11/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|7/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|6/16|c.792C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|6/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|7/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|8/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|11/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|10/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|5/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|4/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|12/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000404276|protein_coding|9/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|5/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|4/14|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|5/13|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|4/13|c.663C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|3/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|4/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|2/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|5/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|10/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|6/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|7/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|9/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:Protein_kinase|ENST00000403642|protein_coding|8/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000403642|protein_coding|3/12|c.390C>G||||||,C|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000403642|protein_coding|2/12|c.390C>G||||||,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|6/16|c.-1C>G|||||1|,C|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|4/9|c.-1C>G|||||1|WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|6/16|n.*153C>G|||||2185|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|4/14|n.*55C>G|||||55|,C|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|5/10|n.*388C>G|||||5467|,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+14988C>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/12|n.592+5562C>G||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|3/7|c.482+5471C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/5|n.154+5562C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|6/16|n.*153C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|4/13|n.663C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|4/14|n.*55C>G||||||,C|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|5/10|n.*388C>G||||||
22	29121018	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.668G>A|p.Arg223His|744/1971|668/1761|223/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.539G>A|p.Arg180His|611/1771|539/1545|180/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.539G>A|p.Arg180His|611/1796|539/870|180/289||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.539G>A|p.Arg180His|539/1785|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.539G>A|p.Arg180His|621/1867|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.539G>A|p.Arg180His|731/1959|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.539G>A|p.Arg180His|539/1545|539/1545|180/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.632G>A|p.Arg211His|653/906|632/885|211/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.668G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.539G>A||||||,T|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.539G>A||||||,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-239G>A|||||5616|,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-125G>A|||||5616|WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*519G>A|||||4291|,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.*713G>A|||||53|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9373G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5545G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.445-107G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5545G>A||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.445-107G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.445-107G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.539G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.539G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.539G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.101G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*519G>A||||||
22	29121019	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.667C>T|p.Arg223Cys|743/1971|667/1761|223/586||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.538C>T|p.Arg180Cys|610/1771|538/1545|180/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.538C>T|p.Arg180Cys|610/1796|538/870|180/289||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.538C>T|p.Arg180Cys|538/1785|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.538C>T|p.Arg180Cys|620/1867|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.538C>T|p.Arg180Cys|730/1959|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.538C>T|p.Arg180Cys|538/1545|538/1545|180/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.631C>T|p.Arg211Cys|652/906|631/885|211/294||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-240C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-126C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.667C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.538C>T||||||,A|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.538C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-240C>T|||||5617|,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-126C>T|||||5617|WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*518C>T|||||4290|,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.*713C>T|||||52|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9372C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5546C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.445-108C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5546C>T||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.445-108C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.445-108C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.538C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.538C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.538C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.100C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*518C>T||||||
22	29121087	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|5/16|c.599T>C|p.Ile200Thr|675/1971|599/1761|200/586||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|4/14|c.470T>C|p.Ile157Thr|542/1771|470/1545|157/514||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|4/14|c.470T>C|p.Ile157Thr|542/1796|470/870|157/289||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|3/14|c.470T>C|p.Ile157Thr|470/1785|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|4/15|c.470T>C|p.Ile157Thr|552/1867|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|5/16|c.470T>C|p.Ile157Thr|662/1959|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|3/13|c.470T>C|p.Ile157Thr|470/1545|470/1545|157/514||,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|5/7|c.563T>C|p.Ile188Thr|584/906|563/885|188/294||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|6/6|c.500T>C|p.Ile167Thr|697/713|500/516|167/171||WARNING_TRANSCRIPT_NO_STOP_CODON,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-308T>C||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-194T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|5/16|c.599T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000382580|protein_coding|4/16|c.599T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000382580|protein_coding|5/16|c.599T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|3/14|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000404276|protein_coding|2/14|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000404276|protein_coding|3/14|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|3/13|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|domain:FHA|ENST00000402731|protein_coding|2/13|c.470T>C||||||,G|sequence_feature|LOW|CHEK2|ENSG00000183765|beta_strand|ENST00000402731|protein_coding|3/13|c.470T>C||||||,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|4/16|c.-308T>C|||||5685|,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|3/9|c.-194T>C|||||5685|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*450T>C|||||4222|,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/4|c.319+9304T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/12|c.320-5614T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|2/13|n.444+144T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/11|c.320-5614T>C||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|2/7|c.444+144T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|3/9|n.444+144T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|4/16|n.470T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|3/13|n.470T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|3/13|n.470T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439346|nonsense_mediated_decay|2/6|n.32T>C||||||,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay|6/6|n.*450T>C||||||
22	29130456	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.254C>T|p.Pro85Leu|330/1971|254/1761|85/586||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.254C>T|p.Pro85Leu|326/1771|254/1545|85/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.254C>T|p.Pro85Leu|326/718|254/492|85/163||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.254C>T|p.Pro85Leu|326/1796|254/870|85/289||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.254C>T|p.Pro85Leu|326/1585|254/1359|85/452||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.254C>T|p.Pro85Leu|254/1785|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.254C>T|p.Pro85Leu|336/1867|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.254C>T|p.Pro85Leu|446/1959|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.254C>T|p.Pro85Leu|254/1545|254/1545|85/514||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.254C>T|p.Pro85Leu|254/1359|254/1359|85/452||,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.254C>T|p.Pro85Leu|260/903|254/897|85/298||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.254C>T|p.Pro85Leu|275/906|254/885|85/294||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.284C>T|p.Pro95Leu|481/713|284/516|95/171||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-524C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-524C>T|||||15054|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1C>T|||||3967|,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7301C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.254C>T||||||,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.254C>T||||||
22	29130637	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.73G>A|p.Val25Ile|149/1971|73/1761|25/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.73G>A|p.Val25Ile|145/1771|73/1545|25/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.73G>A|p.Val25Ile|145/718|73/492|25/163||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.73G>A|p.Val25Ile|145/1796|73/870|25/289||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.73G>A|p.Val25Ile|145/1585|73/1359|25/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.73G>A|p.Val25Ile|73/1785|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.73G>A|p.Val25Ile|155/1867|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.73G>A|p.Val25Ile|265/1959|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.73G>A|p.Val25Ile|73/1545|73/1545|25/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.73G>A|p.Val25Ile|73/1359|73/1359|25/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.73G>A|p.Val25Ile|79/903|73/897|25/298||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.73G>A|p.Val25Ile|94/906|73/885|25/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.103G>A|p.Val35Ile|300/713|103/516|35/171||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-705G>A|||||15235|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1G>A|||||4148|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7120G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.73G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.73G>A||||||
22	29130657	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding|2/16|c.53G>A|p.Cys18Tyr|129/1971|53/1761|18/586||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding|2/14|c.53G>A|p.Cys18Tyr|125/1771|53/1545|18/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding|2/5|c.53G>A|p.Cys18Tyr|125/718|53/492|18/163||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding|2/14|c.53G>A|p.Cys18Tyr|125/1796|53/870|18/289||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding|2/13|c.53G>A|p.Cys18Tyr|125/1585|53/1359|18/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000404276|protein_coding|1/14|c.53G>A|p.Cys18Tyr|53/1785|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding|2/15|c.53G>A|p.Cys18Tyr|135/1867|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding|3/16|c.53G>A|p.Cys18Tyr|245/1959|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000402731|protein_coding|1/13|c.53G>A|p.Cys18Tyr|53/1545|53/1545|18/514||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000403642|protein_coding|1/12|c.53G>A|p.Cys18Tyr|53/1359|53/1359|18/452||,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000447421|protein_coding|1/8|c.53G>A|p.Cys18Tyr|59/903|53/897|18/298||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding|2/7|c.53G>A|p.Cys18Tyr|74/906|53/885|18/294||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding|4/6|c.83G>A|p.Cys28Tyr|280/713|83/516|28/171||WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|2/16|c.-725G>A|||||15255|,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000454252|nonsense_mediated_decay||n.-1G>A|||||4168|,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding|1/8|c.-345+7100G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|2/16|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000417588|nonsense_mediated_decay|1/13|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433728|nonsense_mediated_decay|1/13|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000448511|nonsense_mediated_decay|1/14|n.53G>A||||||,T|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay|2/10|n.53G>A||||||
22	29138115	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|1/6|c.32G>A|p.Arg11Gln|97/1114|32/708|11/235||,A|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|1/5|c.32G>A|p.Arg11Gln|73/955|32/432|11/143||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-365C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1142C>T||||||,A|sequence_feature|LOW|HSCB|ENSG00000100209|transit_peptide:Mitochondrion|ENST00000216027|protein_coding|1/6|c.32G>A||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-365C>T|||||7406|,A|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1142C>T|||||22713|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77C>T|||||289|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73C>T|||||293|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83C>T|||||283|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193C>T|||||327|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45C>T|||||321|,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388C>T|||||316|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22C>T|||||344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198C>T|||||325|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.-1G>A|||||24|,A|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript||n.-1G>A|||||552|,A|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript||n.-1G>A|||||574|,A|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-365C>T||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|1/6|n.32G>A||||||,A|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|1/6|n.32G>A||||||
22	29138301	.	A	G	.	.	ANN=G|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|1/6|c.218A>G|p.Tyr73Cys|283/1114|218/708|73/235||,G|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|1/5|c.218A>G|p.Tyr73Cys|259/955|218/432|73/143||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|1/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|4/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|3/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|domain:J|ENST00000216027|protein_coding|2/6|c.218A>G||||||,G|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|1/6|c.218A>G||||||,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-551T>C|||||7592|,G|5_prime_UTR_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding|1/16|c.-1328T>C|||||22899|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77T>C|||||475|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73T>C|||||479|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83T>C|||||469|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193T>C|||||513|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45T>C|||||507|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388T>C|||||502|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22T>C|||||530|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198T>C|||||511|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript||n.-1A>G|||||366|,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript||n.-1A>G|||||388|,G|non_coding_exon_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay|1/16|n.-551T>C||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|1/6|n.218A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|1/6|n.218A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript|1/4|n.163A>G||||||
22	29141917	.	A	G	.	.	ANN=G|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/6|c.489A>G|p.Ile163Met|554/1114|489/708|163/235||,G|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.489A>G||||||,G|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*116A>G|||||1275|,G|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*62A>G|||||62|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77T>C|||||4091|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73T>C|||||4095|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661T>C|||||3507|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438T>C|||||3507|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83T>C|||||4085|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193T>C|||||4129|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45T>C|||||4123|,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388T>C|||||4118|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22T>C|||||4146|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198T>C|||||4127|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.*656A>G|||||386|,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.428+1220A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*116A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*62A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/6|n.303A>G||||||,G|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/6|n.286A>G||||||
22	29141930	.	A	C	.	.	ANN=C|missense_variant|MODERATE|HSCB|ENSG00000100209|transcript|ENST00000216027|protein_coding|4/6|c.502A>C|p.Ile168Leu|567/1114|502/708|168/235||,C|sequence_feature|LOW|HSCB|ENSG00000100209|helix|ENST00000216027|protein_coding|4/6|c.502A>C||||||,C|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*129A>C|||||1288|,C|3_prime_UTR_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*75A>C|||||75|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382580|protein_coding||c.-77T>G|||||4104|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000348295|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382565|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382566|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000382578|protein_coding||c.-73T>G|||||4108|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000416671|nonsense_mediated_decay||n.-661T>G|||||3520|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000544772|protein_coding||c.-1438T>G|||||3520|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000328354|protein_coding||c.-83T>G|||||4098|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000405598|protein_coding||c.-193T>G|||||4142|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000433028|nonsense_mediated_decay||n.-45T>G|||||4136|,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000425190|protein_coding||c.-388T>G|||||4131|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000439200|protein_coding||c.-22T>G|||||4159|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|transcript|ENST00000398017|protein_coding||c.-198T>G|||||4140|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000485599|processed_transcript||n.*656A>C|||||399|,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000398941|protein_coding|3/4|c.428+1233A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000450178|nonsense_mediated_decay|4/6|n.*129A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000420442|nonsense_mediated_decay|4/6|n.*75A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000483861|processed_transcript|4/6|n.316A>C||||||,C|non_coding_exon_variant|MODIFIER|HSCB|ENSG00000100209|transcript|ENST00000495977|processed_transcript|4/6|n.299A>C||||||
22	29169729	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|2/5|c.202A>G|p.Lys68Glu|378/3985|202/840|68/279||,G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/4|c.202A>G|p.Lys68Glu|278/1137|202/615|68/204||,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|2/5|c.-195A>G|||||7364|,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|2/5|c.-195A>G|||||7364|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*202A>G|||||703|,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+707A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+707A>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*202A>G||||||
22	29169761	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|2/5|c.234T>G|p.Asp78Glu|410/3985|234/840|78/279||,G|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/4|c.234T>G|p.Asp78Glu|310/1137|234/615|78/204||,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|2/5|c.-163T>G|||||7332|,G|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|2/5|c.-163T>G|||||7332|WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*234T>G|||||735|,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|1/1|c.185+739T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|1/3|c.185+739T>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|2/5|n.*234T>G||||||
22	29176976	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/5|c.280T>C|p.Cys94Arg|456/3985|280/840|94/279||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding|2/2|c.226T>C|p.Cys76Arg|348/463|226/341|76/112||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/4|c.226T>C|p.Cys76Arg|348/1035|226/786|76/261||,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/5|c.-117T>C|||||117|,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/5|c.-117T>C|||||117|WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*280T>C|||||7950|,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-2520T>C||||||,C|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*280T>C||||||
22	29177136	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|3/5|c.440G>C|p.Arg147Thr|616/3985|440/840|147/279||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|2/4|c.386G>C|p.Arg129Thr|508/1035|386/786|129/261||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|3/5|c.44G>C|p.Arg15Thr|335/1085|44/444|15/147||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding|3/5|c.44G>C|p.Arg15Thr|401/568|44/211|15/69||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|4/5|c.440G>C||||||,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000249064|protein_coding|3/5|c.440G>C||||||,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|3/4|c.386G>C||||||,C|sequence_feature|LOW|CCDC117|ENSG00000159873|coiled-coil_region|ENST00000448492|protein_coding|2/4|c.386G>C||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*440G>C|||||8110|,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000444523|protein_coding||c.*463G>C|||||45|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|2/3|c.240-2360G>C||||||,C|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|3/5|n.*440G>C||||||
22	29182147	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|5/5|c.673T>A|p.Ser225Thr|849/3985|673/840|225/279||,A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|4/4|c.619T>A|p.Ser207Thr|741/1035|619/786|207/261||,A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|4/4|c.448T>A|p.Ser150Thr|524/1137|448/615|150/204||,A|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|5/5|c.277T>A|p.Ser93Thr|568/1085|277/444|93/147||,A|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|5/5|n.*673T>A|||||13121|,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding||c.*568T>A|||||66|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay|5/5|n.*673T>A||||||
22	29182169	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000249064|protein_coding|5/5|c.695C>T|p.Thr232Ile|871/3985|695/840|232/279||,T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000448492|protein_coding|4/4|c.641C>T|p.Thr214Ile|763/1035|641/786|214/261||,T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000421503|protein_coding|4/4|c.470C>T|p.Thr157Ile|546/1137|470/615|157/204||,T|missense_variant|MODERATE|CCDC117|ENSG00000159873|transcript|ENST00000443309|protein_coding|5/5|c.299C>T|p.Thr100Ile|590/1085|299/444|100/147||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000453543|nonsense_mediated_decay||n.*335C>T|||||4|,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|transcript|ENST00000432510|protein_coding||c.*568C>T|||||88|WARNING_TRANSCRIPT_INCOMPLETE
22	29191576	.	C	A	.	.	ANN=A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|6/6|c.718G>T|p.Val240Leu|718/1131|718/1131|240/376||,A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|5/5|c.744G>T|p.Gln248His|817/1850|744/786|248/261||,A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|5/5|c.759G>T|p.Gln253His|793/1824|759/801|253/266||,A|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|5/5|c.594G>T|p.Gln198His|691/1690|594/636|198/211||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520G>T|||||3318|,A|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|2/2|n.1144G>T||||||
22	29191668	.	T	C	.	.	ANN=C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|6/6|c.626A>G|p.Lys209Arg|626/1131|626/1131|209/376||,C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|5/5|c.652A>G|p.Asn218Asp|725/1850|652/786|218/261||,C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|5/5|c.667A>G|p.Asn223Asp|701/1824|667/801|223/266||,C|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding|5/5|c.502A>G|p.Asn168Asp|599/1690|502/636|168/211||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron||n.*520A>G|||||3226|,C|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron|2/2|n.1052A>G||||||
22	29196494	.	C	T	.	.	ANN=T|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000344347|protein_coding|1/6|c.19G>A|p.Ala7Thr|19/1131|19/1131|7/376||,T|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000216037|protein_coding|1/5|c.19G>A|p.Ala7Thr|92/1850|19/786|7/261||,T|missense_variant|MODERATE|XBP1|ENSG00000100219|transcript|ENST00000403532|protein_coding|1/5|c.19G>A|p.Ala7Thr|53/1824|19/801|7/266||,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000585003|antisense||n.-1C>T|||||203|,T|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000484256|retained_intron||n.-1G>A|||||3461|,T|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000405219|protein_coding||c.-98G>A|||||373|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000458080|antisense||n.-1C>T|||||177|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000418292|antisense||n.-1C>T|||||198|,T|upstream_gene_variant|MODIFIER|CTA-292E10.6|ENSG00000226471|transcript|ENST00000451486|antisense||n.-1C>T|||||1386|,T|non_coding_exon_variant|MODIFIER|XBP1|ENSG00000100219|transcript|ENST00000482720|retained_intron|1/2|n.64G>A||||||
22	29444445	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|7/9|c.981C>A|p.His327Gln|1156/6851|981/2811|327/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|7/9|c.681C>A|p.His227Gln|846/6541|681/2511|227/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|7/9|c.681C>A|p.His227Gln|774/2667|681/2511|227/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|6/8|c.681C>A|p.His227Gln|705/2878|681/2511|227/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|6/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000544604|protein_coding|7/9|c.981C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|6/9|c.681C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|zinc_finger_region:RING-type|ENST00000402174|protein_coding|7/9|c.681C>A||||||
22	29445676	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1507G>A|p.Gly503Ser|1682/6851|1507/2811|503/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1207G>A|p.Gly403Ser|1372/6541|1207/2511|403/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1207G>A|p.Gly403Ser|1300/2667|1207/2511|403/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1207G>A|p.Gly403Ser|1231/2878|1207/2511|403/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1507G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1207G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1207G>A||||||
22	29445841	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.1672G>A|p.Gly558Ser|1847/6851|1672/2811|558/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1372G>A|p.Gly458Ser|1537/6541|1372/2511|458/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1372G>A|p.Gly458Ser|1465/2667|1372/2511|458/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1372G>A|p.Gly458Ser|1396/2878|1372/2511|458/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.1672G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1372G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1372G>A||||||
22	29446367	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2198T>C|p.Leu733Ser|2373/6851|2198/2811|733/936||,C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1898T>C|p.Leu633Ser|2063/6541|1898/2511|633/836||,C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1898T>C|p.Leu633Ser|1991/2667|1898/2511|633/836||,C|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1898T>C|p.Leu633Ser|1922/2878|1898/2511|633/836||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2198T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1898T>C||||||,C|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1898T>C||||||
22	29446403	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2234C>T|p.Pro745Leu|2409/6851|2234/2811|745/936||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.1934C>T|p.Pro645Leu|2099/6541|1934/2511|645/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.1934C>T|p.Pro645Leu|2027/2667|1934/2511|645/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.1934C>T|p.Pro645Leu|1958/2878|1934/2511|645/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2234C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.1934C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.1934C>T||||||
22	29446543	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2374G>A|p.Gly792Arg|2549/6851|2374/2811|792/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2074G>A|p.Gly692Arg|2239/6541|2074/2511|692/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2074G>A|p.Gly692Arg|2167/2667|2074/2511|692/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2074G>A|p.Gly692Arg|2098/2878|2074/2511|692/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2374G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2074G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2074G>A||||||
22	29446601	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2432C>T|p.Thr811Ile|2607/6851|2432/2811|811/936||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2132C>T|p.Thr711Ile|2297/6541|2132/2511|711/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2132C>T|p.Thr711Ile|2225/2667|2132/2511|711/836||,T|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2132C>T|p.Thr711Ile|2156/2878|2132/2511|711/836||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2432C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2132C>T||||||,T|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2132C>T||||||
22	29446787	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2618C>G|p.Thr873Ser|2793/6851|2618/2811|873/936||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2318C>G|p.Thr773Ser|2483/6541|2318/2511|773/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2318C>G|p.Thr773Ser|2411/2667|2318/2511|773/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2318C>G|p.Thr773Ser|2342/2878|2318/2511|773/836||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2618C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2318C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2318C>G||||||
22	29446801	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2632C>G|p.Arg878Gly|2807/6851|2632/2811|878/936||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2332C>G|p.Arg778Gly|2497/6541|2332/2511|778/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2332C>G|p.Arg778Gly|2425/2667|2332/2511|778/836||,G|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2332C>G|p.Arg778Gly|2356/2878|2332/2511|778/836||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2632C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2332C>G||||||,G|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2332C>G||||||
22	29446886	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2717G>A|p.Ser906Asn|2892/6851|2717/2811|906/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2417G>A|p.Ser806Asn|2582/6541|2417/2511|806/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2417G>A|p.Ser806Asn|2510/2667|2417/2511|806/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2417G>A|p.Ser806Asn|2441/2878|2417/2511|806/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2717G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2417G>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2417G>A||||||
22	29446903	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding|8/9|c.2734C>A|p.Gln912Lys|2909/6851|2734/2811|912/936||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding|8/9|c.2434C>A|p.Gln812Lys|2599/6541|2434/2511|812/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000402174|protein_coding|8/9|c.2434C>A|p.Gln812Lys|2527/2667|2434/2511|812/836||,A|missense_variant|MODERATE|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding|7/8|c.2434C>A|p.Gln812Lys|2458/2878|2434/2511|812/836||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|5/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|6/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|8/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|9/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000544604|protein_coding|7/9|c.2734C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|5/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|6/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|9/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|8/9|c.2434C>A||||||,A|sequence_feature|LOW|ZNRF3|ENSG00000183579|topological_domain:Cytoplasmic|ENST00000402174|protein_coding|7/9|c.2434C>A||||||
22	29454909	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.694C>G|p.Pro232Ala|746/995|694/873|232/290||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>C|||||1434|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>C|||||1434|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding||c.*2535G>C|||||4956|
22	29454948	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.655G>A|p.Ala219Thr|707/995|655/873|219/290||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>T|||||1473|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>T|||||1473|,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000406323|protein_coding||c.*2535C>T|||||4995|
22	29454998	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.605C>T|p.Thr202Met|657/995|605/873|202/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1523|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1523|
22	29455058	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.545C>T|p.Ala182Val|597/995|545/873|182/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1583|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1583|
22	29455139	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|3/3|c.464C>T|p.Thr155Ile|516/995|464/873|155/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||1664|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||1664|
22	29456407	.	C	G	.	.	ANN=G|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.428G>C|p.Arg143Thr|480/995|428/873|143/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>G|||||2932|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>G|||||2932|
22	29456467	.	T	C	.	.	ANN=C|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.368A>G|p.Asn123Ser|420/995|368/873|123/290||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986T>C|||||2992|,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676T>C|||||2992|
22	29456545	.	C	G	.	.	ANN=G|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.290G>C|p.Gly97Ala|342/995|290/873|97/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986C>G|||||3070|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676C>G|||||3070|
22	29456671	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.164C>T|p.Ala55Val|216/995|164/873|55/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3196|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3196|
22	29456699	.	A	G	.	.	ANN=G|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.136T>C|p.Cys46Arg|188/995|136/873|46/290||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986A>G|||||3224|,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676A>G|||||3224|
22	29456731	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.104C>T|p.Pro35Leu|156/995|104/873|35/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3256|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3256|
22	29456786	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.49C>T|p.Leu17Phe|101/995|49/873|17/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3311|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3311|
22	29456797	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf31|ENSG00000100249|transcript|ENST00000216071|protein_coding|2/3|c.38C>T|p.Pro13Leu|90/995|38/873|13/290||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000544604|protein_coding||c.*2986G>A|||||3322|,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|transcript|ENST00000332811|protein_coding||c.*2676G>A|||||3322|
22	29490261	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/10|c.113A>G|p.Asn38Ser|126/2719|113/1479|38/492||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/9|c.113A>G|p.Asn38Ser|166/6182|113/1428|38/475||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/9|c.113A>G|p.Asn38Ser|166/6138|113/1377|38/458||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/9|c.107A>G|p.Asn36Ser|107/1422|107/1422|36/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|2/10|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|3/10|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|2/9|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|3/9|c.113A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|2/9|c.107A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|3/9|c.107A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539T>C|||||4768|
22	29490381	.	G	C	.	.	ANN=C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|2/10|c.233G>C|p.Gly78Ala|246/2719|233/1479|78/492||,C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|2/9|c.233G>C|p.Gly78Ala|286/6182|233/1428|78/475||,C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|2/9|c.233G>C|p.Gly78Ala|286/6138|233/1377|78/458||,C|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|2/9|c.227G>C|p.Gly76Ala|227/1422|227/1422|76/473||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|2/10|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000327813|protein_coding|3/10|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|2/9|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000400335|protein_coding|3/9|c.233G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|1/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|2/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:Kringle|ENST00000407188|protein_coding|3/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|2/9|c.227G>C||||||,C|sequence_feature|LOW|KREMEN1|ENSG00000183762|disulfide_bond|ENST00000407188|protein_coding|3/9|c.227G>C||||||,C|downstream_gene_variant|MODIFIER|CTA-747E2.10|ENSG00000226772|transcript|ENST00000456740|antisense||n.*539C>G|||||4648|
22	29517463	.	G	T	.	.	ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|4/10|c.471G>T|p.Arg157Ser|484/2719|471/1479|157/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|4/9|c.471G>T|p.Arg157Ser|524/6182|471/1428|157/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|4/9|c.471G>T|p.Arg157Ser|524/6138|471/1377|157/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|4/9|c.465G>T|p.Arg155Ser|465/1422|465/1422|155/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|6/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|4/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|3/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000327813|protein_coding|5/10|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|6/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|4/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|3/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000400335|protein_coding|5/9|c.471G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|6/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|4/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|3/9|c.465G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:WSC|ENST00000407188|protein_coding|5/9|c.465G>T||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.-1G>T|||||3722|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|1/4|n.33G>T||||||
22	29533437	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.739C>T|p.Arg247Trp|752/2719|739/1479|247/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.739C>T|p.Arg247Trp|792/6182|739/1428|247/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.739C>T|p.Arg247Trp|792/6138|739/1377|247/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.733C>T|p.Arg245Trp|733/1422|733/1422|245/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.739C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.733C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.733C>T||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||4581|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>T|||||3329|,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|2/3|n.194-53C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.328C>T||||||
22	29533536	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.838G>A|p.Val280Ile|851/2719|838/1479|280/492||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.838G>A|p.Val280Ile|891/6182|838/1428|280/475||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.838G>A|p.Val280Ile|891/6138|838/1377|280/458||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.832G>A|p.Val278Ile|832/1422|832/1422|278/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.838G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.832G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.832G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||4482|,A|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>A|||||3428|,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.240G>A||||||,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.427G>A||||||
22	29533551	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.853C>T|p.His285Tyr|866/2719|853/1479|285/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.853C>T|p.His285Tyr|906/6182|853/1428|285/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.853C>T|p.His285Tyr|906/6138|853/1377|285/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.847C>T|p.His283Tyr|847/1422|847/1422|283/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.853C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.847C>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.847C>T||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*9C>T|||||9|,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>T|||||4467|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>T|||||3443|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*9C>T||||||,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.442C>T||||||
22	29533572	.	C	G	.	.	ANN=G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|6/10|c.874C>G|p.Leu292Val|887/2719|874/1479|292/492||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|6/9|c.874C>G|p.Leu292Val|927/6182|874/1428|292/475||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|6/9|c.874C>G|p.Leu292Val|927/6138|874/1377|292/458||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|6/9|c.868C>G|p.Leu290Val|868/1422|868/1422|290/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|7/10|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000327813|protein_coding|6/10|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|6/9|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000400335|protein_coding|7/9|c.874C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|7/9|c.868C>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|domain:CUB|ENST00000407188|protein_coding|6/9|c.868C>G||||||,G|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*30C>G|||||30|,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1C>G|||||4446|,G|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107C>G|||||3464|,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|3/4|n.*30C>G||||||,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|2/3|n.463C>G||||||
22	29534621	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.974A>G|p.Glu325Gly|987/2719|974/1479|325/492||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.974A>G|p.Glu325Gly|1027/6182|974/1428|325/475||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.974A>G|p.Glu325Gly|1027/6138|974/1377|325/458||,G|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.968A>G|p.Glu323Gly|968/1422|968/1422|323/473||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.968A>G||||||,G|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.968A>G||||||,G|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*130A>G|||||1079|,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1A>G|||||3397|,G|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107A>G|||||4513|,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*130A>G||||||,G|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron|3/3|n.563A>G||||||
22	29534635	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.988G>A|p.Glu330Lys|1001/2719|988/1479|330/492||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.988G>A|p.Glu330Lys|1041/6182|988/1428|330/475||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.988G>A|p.Glu330Lys|1041/6138|988/1377|330/458||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.982G>A|p.Glu328Lys|982/1422|982/1422|328/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.982G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.982G>A||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*144G>A|||||1093|,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||3383|,A|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>A|||||4527|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>A|||||5|,A|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*144G>A||||||
22	29534659	.	G	T	.	.	ANN=T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|7/10|c.1012G>T|p.Val338Leu|1025/2719|1012/1479|338/492||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|7/9|c.1012G>T|p.Val338Leu|1065/6182|1012/1428|338/475||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|7/9|c.1012G>T|p.Val338Leu|1065/6138|1012/1377|338/458||,T|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|7/9|c.1006G>T|p.Val336Leu|1006/1422|1006/1422|336/473||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|7/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|1/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|8/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|6/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|4/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|2/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|3/9|c.1006G>T||||||,T|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Extracellular|ENST00000407188|protein_coding|5/9|c.1006G>T||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*168G>T|||||1117|,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>T|||||3359|,T|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|transcript|ENST00000364001|snRNA||n.*107G>T|||||4551|,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>T|||||29|,T|non_coding_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay|4/4|n.*168G>T||||||
22	29537940	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000327813|protein_coding|9/10|c.1268G>A|p.Arg423His|1281/2719|1268/1479|423/492||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400338|protein_coding|9/9|c.1268G>A|p.Arg423His|1321/6182|1268/1428|423/475||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000400335|protein_coding|9/9|c.1217G>A|p.Arg406His|1270/6138|1217/1377|406/458||,A|missense_variant|MODERATE|KREMEN1|ENSG00000183762|transcript|ENST00000407188|protein_coding|9/9|c.1262G>A|p.Arg421His|1262/1422|1262/1422|421/473||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|8/9|c.1217G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000400335|protein_coding|9/9|c.1217G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|8/9|c.1262G>A||||||,A|sequence_feature|LOW|KREMEN1|ENSG00000183762|topological_domain:Cytoplasmic|ENST00000407188|protein_coding|9/9|c.1262G>A||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000479755|processed_transcript||n.-1G>A|||||78|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000453585|nonsense_mediated_decay||n.*248G>A|||||3181|,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|transcript|ENST00000474001|retained_intron||n.*572G>A|||||3310|
22	29611019	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|2/15|c.206C>T|p.Pro69Leu|333/2118|206/1338|69/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|2/15|c.206C>T|p.Pro69Leu|394/2173|206/1332|69/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|2/7|c.206C>T|p.Pro69Leu|339/769|206/636|69/211||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|2/14|c.206C>T|p.Pro69Leu|333/2049|206/1269|69/422||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|2/6|c.206C>T|p.Pro69Leu|322/641|206/525|69/174||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|EMID1|ENSG00000186998|disulfide_bond|ENST00000334018|protein_coding|3/15|c.206C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|disulfide_bond|ENST00000334018|protein_coding|2/15|c.206C>T||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.-1C>T|||||547|,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.101+8891C>T||||||
22	29621128	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/15|c.326C>G|p.Ala109Gly|453/2118|326/1338|109/445||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/15|c.326C>G|p.Ala109Gly|514/2173|326/1332|109/443||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/7|c.326C>G|p.Ala109Gly|459/769|326/636|109/211||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/14|c.326C>G|p.Ala109Gly|453/2049|326/1269|109/422||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1351C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5881C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/8|n.61C>G||||||
22	29621173	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/15|c.371G>A|p.Arg124Gln|498/2118|371/1338|124/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/15|c.371G>A|p.Arg124Gln|559/2173|371/1332|124/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/7|c.371G>A|p.Arg124Gln|504/769|371/636|124/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/14|c.371G>A|p.Arg124Gln|498/2049|371/1269|124/422||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1306G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5836G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/8|n.106G>A||||||
22	29621188	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|4/15|c.386G>A|p.Arg129Gln|513/2118|386/1338|129/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|4/15|c.386G>A|p.Arg129Gln|574/2173|386/1332|129/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|4/7|c.386G>A|p.Arg129Gln|519/769|386/636|129/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|4/14|c.386G>A|p.Arg129Gln|513/2049|386/1269|129/422||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|3/5|c.320-1291G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|1/3|n.102-5821G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|2/8|n.121G>A||||||
22	29627111	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|6/15|c.568G>A|p.Gly190Arg|695/2118|568/1338|190/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|6/15|c.568G>A|p.Gly190Arg|756/2173|568/1332|190/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/7|c.568G>A|p.Gly190Arg|701/769|568/636|190/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|6/14|c.568G>A|p.Gly190Arg|695/2049|568/1269|190/422||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding|5/6|c.484G>A|p.Gly162Arg|600/641|484/525|162/174||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|1/9|c.103G>A|p.Gly35Arg|105/707|103/705|35/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.568G>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.568G>A||||||,A|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/4|n.*99G>A|||||99|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.-1G>A|||||560|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1G>A|||||1214|,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1G>A|||||2224|,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|2/4|n.*99G>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|4/8|n.371G>A||||||
22	29628260	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|8/15|c.692C>G|p.Pro231Arg|819/2118|692/1338|231/445||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|8/15|c.692C>G|p.Pro231Arg|880/2173|692/1332|231/443||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|8/14|c.692C>G|p.Pro231Arg|819/2049|692/1269|231/422||,G|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|4/9|c.278C>G|p.Pro93Arg|280/707|278/705|93/234||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.692C>G||||||,G|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.692C>G||||||,G|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*223C>G|||||1248|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1C>G|||||65|,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1C>G|||||1075|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>G|||||656|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.587-1108C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*223C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|6/8|n.495C>G||||||,G|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.590C>G||||||
22	29628283	.	G	C	.	.	ANN=C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|8/15|c.715G>C|p.Ala239Pro|842/2118|715/1338|239/445||,C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|8/15|c.715G>C|p.Ala239Pro|903/2173|715/1332|239/443||,C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|8/14|c.715G>C|p.Ala239Pro|842/2049|715/1269|239/422||,C|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|4/9|c.301G>C|p.Ala101Pro|303/707|301/705|101/234||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.715G>C||||||,C|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.715G>C||||||,C|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*246G>C|||||1271|,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.-1G>C|||||42|,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.-1G>C|||||1052|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>C|||||679|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding|6/6|c.587-1085G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay|4/4|n.*246G>C||||||,C|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|6/8|n.518G>C||||||,C|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.613G>C||||||
22	29629433	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|9/15|c.889C>A|p.Pro297Thr|1016/2118|889/1338|297/445||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|9/15|c.889C>A|p.Pro297Thr|1077/2173|889/1332|297/443||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|9/14|c.889C>A|p.Pro297Thr|1016/2049|889/1269|297/422||,A|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|5/9|c.475C>A|p.Pro159Thr|477/707|475/705|159/234||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.889C>A||||||,A|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.889C>A||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>A|||||1829|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>A|||||1099|,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|7/8|n.692C>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|1/2|n.1763C>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|2/8|n.133C>A||||||,A|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|1/6|n.99C>A||||||
22	29629632	.	G	T	.	.	ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|10/15|c.943G>T|p.Val315Phe|1070/2118|943/1338|315/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|10/15|c.943G>T|p.Val315Phe|1131/2173|943/1332|315/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|10/14|c.943G>T|p.Val315Phe|1070/2049|943/1269|315/422||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|6/9|c.529G>T|p.Val177Phe|531/707|529/705|177/234||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.943G>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.943G>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769G>T|||||215|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641G>T|||||2028|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185G>T|||||1298|,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript|8/8|n.746G>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron|2/2|n.1817G>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|3/8|n.187G>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|2/6|n.153G>T||||||
22	29630300	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|12/15|c.1036C>T|p.Arg346Cys|1163/2118|1036/1338|346/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|12/15|c.1036C>T|p.Arg346Cys|1224/2173|1036/1332|346/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|11/14|c.973C>T|p.Arg325Cys|1100/2049|973/1269|325/422||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000433143|protein_coding|8/9|c.622C>T|p.Arg208Cys|624/707|622/705|208/234||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|9/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|12/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|10/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|6/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|7/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|13/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|8/15|c.1036C>T||||||,T|sequence_feature|LOW|EMID1|ENSG00000186998|domain:Collagen-like|ENST00000334018|protein_coding|11/15|c.1036C>T||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000429226|protein_coding||c.*769C>T|||||883|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000430127|protein_coding||c.*641C>T|||||2696|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000435427|nonsense_mediated_decay||n.*185C>T|||||1966|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000484039|processed_transcript||n.*770C>T|||||644|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000473933|retained_intron||n.*2036C>T|||||449|,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron|5/8|n.280C>T||||||,T|non_coding_exon_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron|4/6|n.246C>T||||||
22	29654833	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding|15/15|c.1238C>T|p.Pro413Leu|1365/2118|1238/1338|413/445||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding|15/15|c.1232C>T|p.Pro411Leu|1420/2173|1232/1332|411/443||,T|missense_variant|MODERATE|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding|14/14|c.1169C>T|p.Pro390Leu|1296/2049|1169/1269|390/422||,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||2045|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding||c.*1586G>A|||||1008|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||3232|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000487477|retained_intron||n.*932C>T|||||4039|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay||n.*662G>A|||||1060|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||1655|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||1968|WARNING_TRANSCRIPT_NO_STOP_CODON
22	29656159	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1051C>T|p.Arg351Cys|1476/1794|1051/1161|351/386||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1051C>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1051C>T||||||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*627C>T|||||1134|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>A|||||719|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||573|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||573|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||573|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>A|||||4558|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849C>T|||||329|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>T|||||642|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>T|||||3787|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||4865|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*627C>T||||||
22	29656171	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1039G>A|p.Ala347Thr|1464/1794|1039/1161|347/386||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1039G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1039G>A||||||,T|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*615G>A|||||1122|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||707|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||585|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||585|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||585|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||4570|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||317|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||630|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||3775|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||4853|,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*615G>A||||||
22	29656209	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|7/7|c.1001G>A|p.Arg334His|1426/1794|1001/1161|334/386||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|7/7|c.1001G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|domain:UBA|ENST00000216085|protein_coding|6/7|c.1001G>A||||||,T|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*577G>A|||||1084|,T|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>T|||||669|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||623|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||623|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||623|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790C>T|||||4608|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron||n.*849G>A|||||279|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>A|||||592|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||3737|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||4815|,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|7/7|n.*577G>A||||||
22	29656568	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|6/7|c.730C>G|p.Pro244Ala|1155/1794|730/1161|244/386||,C|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*306C>G|||||725|,C|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1G>C|||||310|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>C|||||982|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>C|||||982|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>C|||||982|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000488820|retained_intron||n.*790G>C|||||4967|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900C>G|||||233|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755C>G|||||3378|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>G|||||4456|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>G|||||4867|,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|6/7|n.*306C>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|3/3|n.769C>G||||||
22	29656697	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/7|c.689G>T|p.Gly230Val|1114/1794|689/1161|230/386||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*265G>T|||||596|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>A|||||181|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>A|||||1111|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>A|||||1111|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>A|||||1111|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900G>T|||||104|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>T|||||3249|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>T|||||4327|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>T|||||4738|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*265G>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/3|n.728G>T||||||
22	29656706	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/7|c.680A>G|p.His227Arg|1105/1794|680/1161|227/386||,C|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*256A>G|||||587|,C|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1T>C|||||172|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465T>C|||||1120|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520T>C|||||1120|,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396T>C|||||1120|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding||c.*900A>G|||||95|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755A>G|||||3240|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999A>G|||||4318|,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640A>G|||||4729|,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*256A>G||||||,C|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/3|n.719A>G||||||
22	29656842	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|5/7|c.544G>T|p.Ala182Ser|969/1794|544/1161|182/386||,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|5/5|c.544G>T|p.Ala182Ser|859/900|544/585|182/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.544G>T||||||,A|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.544G>T||||||,A|3_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*120G>T|||||451|,A|upstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.-1C>A|||||36|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>A|||||1256|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>A|||||1256|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>A|||||1256|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>T|||||3104|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>T|||||4182|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>T|||||4593|,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|5/7|n.*120G>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|2/3|n.583G>T||||||
22	29659845	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.511G>A|p.Gly171Ser|936/1794|511/1161|171/386||,T|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.511G>A|p.Gly171Ser|826/900|511/585|171/194||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.511G>A||||||,T|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|5/7|c.511G>A||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22C>T|||||4460|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329C>T|||||4153|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329C>T|||||4153|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320C>T|||||4162|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85C>T|||||4397|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85C>T|||||4397|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1C>T|||||4417|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65C>T|||||4417|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56C>T|||||4426|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48C>T|||||4434|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47C>T|||||4435|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1C>T|||||4457|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20C>T|||||4462|,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12C>T|||||4470|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12C>T|||||4470|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465C>T|||||4259|,T|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385C>T|||||1819|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520C>T|||||4259|,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396C>T|||||4259|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755G>A|||||101|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999G>A|||||1179|,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640G>A|||||1590|,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1623G>A||||||,T|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.546G>A||||||
22	29659878	.	T	G	.	.	ANN=G|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.478A>C|p.Ser160Arg|903/1794|478/1161|160/386||,G|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.478A>C|p.Ser160Arg|793/900|478/585|160/194||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|RHBDD3|ENSG00000100263|transmembrane_region:Transmembrane_region|ENST00000216085|protein_coding|4/7|c.478A>C||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22T>G|||||4427|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329T>G|||||4120|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329T>G|||||4120|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320T>G|||||4129|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85T>G|||||4364|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85T>G|||||4364|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1T>G|||||4384|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65T>G|||||4384|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56T>G|||||4393|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48T>G|||||4401|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47T>G|||||4402|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1T>G|||||4424|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20T>G|||||4429|,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12T>G|||||4437|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12T>G|||||4437|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465T>G|||||4292|,G|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385T>G|||||1852|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520T>G|||||4292|,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396T>G|||||4292|,G|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding||c.*755A>C|||||68|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999A>C|||||1146|,G|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640A>C|||||1557|,G|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1590A>C||||||,G|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.513A>C||||||
22	29659953	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.403C>T|p.Arg135Cys|828/1794|403/1161|135/386||,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.403C>T|p.Arg135Cys|718/900|403/585|135/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.403C>T|p.Arg135Cys|748/755|403/410|135/135||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4352|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||4045|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||4045|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||4054|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4289|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4289|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4309|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4309|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4318|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4326|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4327|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4349|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4354|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4362|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4362|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4367|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||1927|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4367|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4367|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||1071|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1482|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1515C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.438C>T||||||
22	29660099	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000216085|protein_coding|4/7|c.257C>T|p.Thr86Met|682/1794|257/1161|86/386||,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000414672|protein_coding|4/5|c.257C>T|p.Thr86Met|572/900|257/585|86/194||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|RHBDD3|ENSG00000100263|transcript|ENST00000406335|protein_coding|3/3|c.257C>T|p.Thr86Met|602/755|257/410|86/135||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding||c.-22G>A|||||4206|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.-329G>A|||||3899|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding||c.-329G>A|||||3899|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding||c.-320G>A|||||3908|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding||c.-85G>A|||||4143|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding||c.-85G>A|||||4143|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000485037|retained_intron||n.-1G>A|||||4163|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding||c.-65G>A|||||4163|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding||c.-56G>A|||||4172|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.-48G>A|||||4180|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding||c.-47G>A|||||4181|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron||n.-1G>A|||||4203|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding||c.-20G>A|||||4208|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.-12G>A|||||4216|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding||c.-12G>A|||||4216|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404820|protein_coding||c.*1465G>A|||||4513|,A|downstream_gene_variant|MODIFIER|CTA-984G1.5|ENSG00000237015|transcript|ENST00000433125|antisense||n.*385G>A|||||2073|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000334018|protein_coding||c.*1520G>A|||||4513|,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|transcript|ENST00000404755|protein_coding||c.*1396G>A|||||4513|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000493894|retained_intron||n.*999C>T|||||925|,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000488106|retained_intron||n.*640C>T|||||1336|,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000413137|nonsense_mediated_decay|3/6|n.148+1369C>T||||||,A|non_coding_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|transcript|ENST00000496342|retained_intron|1/3|n.292C>T||||||
22	29678394	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|7/18|c.447C>G|p.Asn149Lys|468/2189|447/1986|149/661||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|6/15|c.429C>G|p.Asn143Lys|757/2443|429/1752|143/583||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|6/17|c.429C>G|p.Asn143Lys|748/2654|429/1971|143/656||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000436425|protein_coding|7/7|c.450C>G|p.Asn150Lys|534/553|450/469|150/155||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000447973|protein_coding|7/7|c.447C>G|p.Asn149Lys|531/582|447/498|149/165||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|6/17|c.429C>G|p.Asn143Lys|493/2207|429/1968|143/655||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|6/8|c.432C>G|p.Asn144Lys|487/933|432/878|144/291||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding|5/6|c.204C>G|p.Asn68Lys|251/587|204/540|68/179||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|6/15|c.429C>G|p.Asn143Lys|475/2267|429/1857|143/618||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|6/9|c.429C>G|p.Asn143Lys|448/1265|429/1065|143/354||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000414183|protein_coding|6/18|c.447C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000414183|protein_coding|7/18|c.447C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|4/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|8/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|3/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|7/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|2/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|5/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|6/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000397938|protein_coding|1/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|4/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|8/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|3/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|7/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|2/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|5/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000397938|protein_coding|6/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000397938|protein_coding|5/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000397938|protein_coding|6/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|4/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|8/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|3/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|7/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|1/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|2/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|5/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000406548|protein_coding|6/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|4/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|8/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|3/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|7/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|2/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|5/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000406548|protein_coding|6/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000406548|protein_coding|5/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000406548|protein_coding|6/17|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|7/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|4/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|2/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|8/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|5/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|3/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|6/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:EAD__Gln/Pro/Thr-rich_|ENST00000333395|protein_coding|1/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|7/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|4/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|2/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|8/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|5/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|3/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|region_of_interest:31_X_approximate_tandem_repeats|ENST00000333395|protein_coding|6/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000333395|protein_coding|5/9|c.429C>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|repeat:14|ENST00000333395|protein_coding|6/9|c.429C>G||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000444626|protein_coding||c.*560C>G|||||4364|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding|5/6|c.413+4189C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|5/15|c.413+4189C>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|6/8|n.453C>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|2/12|n.2604C>G||||||
22	29684676	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|9/18|c.893G>A|p.Arg298Gln|914/2189|893/1986|298/661||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|8/17|c.875G>A|p.Arg292Gln|1194/2654|875/1971|292/656||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|8/17|c.875G>A|p.Arg292Gln|939/2207|875/1968|292/655||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|8/15|c.875G>A|p.Arg292Gln|921/2267|875/1857|292/618||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000333395|protein_coding|8/9|c.875G>A|p.Arg292Gln|894/1265|875/1065|292/354||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|7/16|c.707G>A|p.Arg236Gln|718/1989|707/1803|236/600||,A|splice_region_variant&synonymous_variant|LOW|EWSR1|ENSG00000182944|transcript|ENST00000437155|protein_coding|8/8|c.878G>A|p.???293???|933/933|878/878|293/291||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron||n.-1G>A|||||2143|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron||n.-1G>A|||||3242|,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding||c.-2G>A|||||3472|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000415761|protein_coding||c.*587G>A|||||1581|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000455726|protein_coding||c.*710G>A|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|7/14|c.793+1553G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483415|retained_intron|8/8|n.899G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|4/12|n.3050G>A||||||
22	29692328	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|13/18|c.1279A>G|p.Thr427Ala|1300/2189|1279/1986|427/661||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|10/15|c.1045A>G|p.Thr349Ala|1373/2443|1045/1752|349/583||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|12/17|c.1264A>G|p.Thr422Ala|1583/2654|1264/1971|422/656||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|12/17|c.1261A>G|p.Thr421Ala|1325/2207|1261/1968|421/655||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|10/15|c.1150A>G|p.Thr384Ala|1196/2267|1150/1857|384/618||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|11/16|c.1096A>G|p.Thr366Ala|1107/1989|1096/1803|366/600||,G|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|3/8|c.229A>G|p.Thr77Ala|230/1289|229/924|77/307||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|13/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|14/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000414183|protein_coding|12/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000414183|protein_coding|13/18|c.1279A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|12/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|13/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000397938|protein_coding|11/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000397938|protein_coding|12/17|c.1264A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|12/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|13/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000406548|protein_coding|11/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000406548|protein_coding|12/17|c.1261A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|11/16|c.1096A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|12/16|c.1096A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|domain:RRM|ENST00000332035|protein_coding|10/16|c.1096A>G||||||,G|sequence_feature|LOW|EWSR1|ENSG00000182944|helix|ENST00000332035|protein_coding|11/16|c.1096A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|7/12|n.6214A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|3/8|n.1559A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|3/7|n.460A>G||||||,G|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|1/4|n.814A>G||||||
22	29693915	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|14/18|c.1408G>A|p.Gly470Ser|1429/2189|1408/1986|470/661||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|11/15|c.1174G>A|p.Gly392Ser|1502/2443|1174/1752|392/583||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|13/17|c.1393G>A|p.Gly465Ser|1712/2654|1393/1971|465/656||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|13/17|c.1390G>A|p.Gly464Ser|1454/2207|1390/1968|464/655||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|11/15|c.1279G>A|p.Gly427Ser|1325/2267|1279/1857|427/618||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|12/16|c.1225G>A|p.Gly409Ser|1236/1989|1225/1803|409/600||,A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|4/8|c.358G>A|p.Gly120Ser|359/1289|358/924|120/307||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|14/18|c.1408G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000414183|protein_coding|15/18|c.1408G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|13/17|c.1393G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000397938|protein_coding|14/17|c.1393G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|13/17|c.1390G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000406548|protein_coding|14/17|c.1390G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|12/16|c.1225G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|compositionally_biased_region:Arg/Gly/Pro-rich|ENST00000332035|protein_coding|13/16|c.1225G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|8/12|n.6343G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|4/8|n.1688G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|4/7|n.589G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|2/4|n.943G>A||||||
22	29695192	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EWSR1|ENSG00000182944|transcript|ENST00000360091|protein_coding|6/8|c.553G>A|p.Gly185Ser|554/1289|553/924|185/307||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|16/18|c.1596-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000414183|protein_coding|15/18|c.1596-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|15/17|c.1581-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000397938|protein_coding|14/17|c.1581-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|15/17|c.1578-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000406548|protein_coding|14/17|c.1578-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|14/16|c.1413-32G>A||||||,A|sequence_feature|LOW|EWSR1|ENSG00000182944|zinc_finger_region:RanBP2-type|ENST00000332035|protein_coding|13/16|c.1413-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000414183|protein_coding|15/17|c.1596-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332050|protein_coding|12/14|c.1362-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000397938|protein_coding|14/16|c.1581-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000406548|protein_coding|14/16|c.1578-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000331029|protein_coding|12/14|c.1467-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000332035|protein_coding|13/15|c.1413-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000479135|retained_intron|9/11|n.6531-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000469669|retained_intron|5/7|n.1876-32G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000483629|retained_intron|5/7|n.1083G>A||||||,A|non_coding_exon_variant|MODIFIER|EWSR1|ENSG00000182944|transcript|ENST00000490315|retained_intron|3/4|n.1437G>A||||||
22	29704255	.	A	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.160A>T|p.Thr54Ser|309/2482|160/1614|54/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.160A>T|p.Thr54Ser|751/2924|160/1614|54/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.160A>T|p.Thr54Ser|490/745|160/415|54/137||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.160A>T|p.Thr54Ser|299/569|160/430|54/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.160A>T|p.Thr54Ser|310/2308|160/990|54/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.160A>T|p.Thr54Ser|310/1803|160/1365|54/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.160A>T|p.Thr54Ser|292/2237|160/1014|54/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.160A>T|p.Thr54Ser|308/2481|160/1614|54/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.160A>T|p.Thr54Ser|1208/3381|160/1614|54/537||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000360113|protein_coding|2/5|c.160A>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000406549|protein_coding|2/6|c.160A>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000341313|protein_coding|2/5|c.160A>T||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1A>T|||||2014|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122T>A|||||4667|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550A>T|||||466|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794T>A|||||4667|
22	29704333	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.238C>T|p.Arg80Cys|387/2482|238/1614|80/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.238C>T|p.Arg80Cys|829/2924|238/1614|80/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.238C>T|p.Arg80Cys|568/745|238/415|80/137||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.238C>T|p.Arg80Cys|377/569|238/430|80/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.238C>T|p.Arg80Cys|388/2308|238/990|80/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.238C>T|p.Arg80Cys|388/1803|238/1365|80/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.238C>T|p.Arg80Cys|370/2237|238/1014|80/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.238C>T|p.Arg80Cys|386/2481|238/1614|80/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.238C>T|p.Arg80Cys|1286/3381|238/1614|80/537||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000360113|protein_coding|2/5|c.238C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000406549|protein_coding|2/6|c.238C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000341313|protein_coding|2/5|c.238C>T||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1936|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4589|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||544|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4589|
22	29704409	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.314C>T|p.Thr105Ile|463/2482|314/1614|105/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.314C>T|p.Thr105Ile|905/2924|314/1614|105/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding|3/3|c.314C>T|p.Thr105Ile|644/745|314/415|105/137||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding|2/2|c.314C>T|p.Thr105Ile|453/569|314/430|105/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.314C>T|p.Thr105Ile|464/2308|314/990|105/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.314C>T|p.Thr105Ile|464/1803|314/1365|105/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.314C>T|p.Thr105Ile|446/2237|314/1014|105/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.314C>T|p.Thr105Ile|462/2481|314/1614|105/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.314C>T|p.Thr105Ile|1362/3381|314/1614|105/537||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000360113|protein_coding|2/5|c.314C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000406549|protein_coding|2/6|c.314C>T||||||,T|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:CH|ENST00000341313|protein_coding|2/5|c.314C>T||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1860|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4513|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||620|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4513|
22	29704627	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.532C>T|p.Pro178Ser|681/2482|532/1614|178/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.532C>T|p.Pro178Ser|1123/2924|532/1614|178/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.532C>T|p.Pro178Ser|682/2308|532/990|178/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.532C>T|p.Pro178Ser|682/1803|532/1365|178/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.532C>T|p.Pro178Ser|664/2237|532/1014|178/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.532C>T|p.Pro178Ser|680/2481|532/1614|178/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.532C>T|p.Pro178Ser|1580/3381|532/1614|178/537||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1642|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4295|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||117|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||102|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||838|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4295|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||4865|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||4897|
22	29704642	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.547G>A|p.Asp183Asn|696/2482|547/1614|183/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.547G>A|p.Asp183Asn|1138/2924|547/1614|183/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.547G>A|p.Asp183Asn|697/2308|547/990|183/329||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.547G>A|p.Asp183Asn|697/1803|547/1365|183/454||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.547G>A|p.Asp183Asn|679/2237|547/1014|183/337||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.547G>A|p.Asp183Asn|695/2481|547/1614|183/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.547G>A|p.Asp183Asn|1595/3381|547/1614|183/537||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1G>A|||||1627|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||4280|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||132|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||117|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||853|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||4280|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||4850|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||4882|
22	29704688	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|2/6|c.593C>T|p.Pro198Leu|742/2482|593/1614|198/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|2/6|c.593C>T|p.Pro198Leu|1184/2924|593/1614|198/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|2/5|c.593C>T|p.Pro198Leu|743/2308|593/990|198/329||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|2/6|c.593C>T|p.Pro198Leu|743/1803|593/1365|198/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|2/5|c.593C>T|p.Pro198Leu|725/2237|593/1014|198/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|2/6|c.593C>T|p.Pro198Leu|741/2481|593/1614|198/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|1/5|c.593C>T|p.Pro198Leu|1641/3381|593/1614|198/537||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron||n.-1C>T|||||1581|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||4234|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||178|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||163|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||899|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||4234|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||4804|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||4836|
22	29706514	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|3/6|c.719C>G|p.Ser240Trp|868/2482|719/1614|240/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|3/6|c.719C>G|p.Ser240Trp|1310/2924|719/1614|240/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|3/5|c.719C>G|p.Ser240Trp|869/2308|719/990|240/329||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|3/6|c.719C>G|p.Ser240Trp|869/1803|719/1365|240/454||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|3/5|c.719C>G|p.Ser240Trp|851/2237|719/1014|240/337||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|3/6|c.719C>G|p.Ser240Trp|867/2481|719/1614|240/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|2/5|c.719C>G|p.Ser240Trp|1767/3381|719/1614|240/537||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|2/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|4/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000360113|protein_coding|3/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|2/6|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|4/6|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000406549|protein_coding|3/6|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|2/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|4/5|c.719C>G||||||,G|sequence_feature|LOW|GAS2L1|ENSG00000185340|domain:GAR|ENST00000341313|protein_coding|3/5|c.719C>G||||||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>C|||||2408|,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>G|||||2004|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>G|||||1989|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>G|||||2725|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>C|||||2408|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>C|||||2978|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>C|||||3010|,G|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|1/3|n.246C>G||||||
22	29706885	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.907C>T|p.Arg303Cys|1056/2482|907/1614|303/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.907C>T|p.Arg303Cys|1498/2924|907/1614|303/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.907C>T|p.Arg303Cys|1057/1803|907/1365|303/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.907C>T|p.Arg303Cys|1039/2237|907/1014|303/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.907C>T|p.Arg303Cys|1055/2481|907/1614|303/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.907C>T|p.Arg303Cys|1955/3381|907/1614|303/537||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>A|||||2037|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>T|||||2375|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>T|||||2360|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>T|||||3096|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>A|||||2037|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>A|||||2607|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>A|||||2639|,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+161C>T||||||,T|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.434C>T||||||
22	29706907	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.929G>T|p.Gly310Val|1078/2482|929/1614|310/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.929G>T|p.Gly310Val|1520/2924|929/1614|310/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.929G>T|p.Gly310Val|1079/1803|929/1365|310/454||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.929G>T|p.Gly310Val|1061/2237|929/1014|310/337||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.929G>T|p.Gly310Val|1077/2481|929/1614|310/537||,T|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.929G>T|p.Gly310Val|1977/3381|929/1614|310/537||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>A|||||2015|,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>T|||||2397|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>T|||||2382|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>T|||||3118|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>A|||||2015|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>A|||||2585|,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>A|||||2617|,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+183G>T||||||,T|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.456G>T||||||
22	29706919	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.941G>A|p.Arg314Gln|1090/2482|941/1614|314/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.941G>A|p.Arg314Gln|1532/2924|941/1614|314/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.941G>A|p.Arg314Gln|1091/1803|941/1365|314/454||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.941G>A|p.Arg314Gln|1073/2237|941/1014|314/337||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.941G>A|p.Arg314Gln|1089/2481|941/1614|314/537||,A|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.941G>A|p.Arg314Gln|1989/3381|941/1614|314/537||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122C>T|||||2003|,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745G>A|||||2409|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569G>A|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550G>A|||||3130|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794C>T|||||2003|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562C>T|||||2573|,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538C>T|||||2605|,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+195G>A||||||,A|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.468G>A||||||
22	29706927	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000403764|protein_coding|5/6|c.949C>G|p.Arg317Gly|1098/2482|949/1614|317/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407647|protein_coding|5/6|c.949C>G|p.Arg317Gly|1540/2924|949/1614|317/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000406549|protein_coding|5/6|c.949C>G|p.Arg317Gly|1099/1803|949/1365|317/454||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000341313|protein_coding|5/5|c.949C>G|p.Arg317Gly|1081/2237|949/1014|317/337||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000407854|protein_coding|5/6|c.949C>G|p.Arg317Gly|1097/2481|949/1614|317/537||,G|missense_variant|MODERATE|GAS2L1|ENSG00000185340|transcript|ENST00000471961|protein_coding|4/5|c.949C>G|p.Arg317Gly|1997/3381|949/1614|317/537||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000216101|protein_coding||c.*1122G>C|||||1995|,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000416823|protein_coding||c.*745C>G|||||2417|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000428622|protein_coding||c.*569C>G|||||2402|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000487341|retained_intron||n.*550C>G|||||3138|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000401450|protein_coding||c.*794G>C|||||1995|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000608559|processed_transcript||n.*562G>C|||||2565|,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|transcript|ENST00000474590|processed_transcript||n.*538G>C|||||2597|,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000360113|protein_coding|4/4|c.838+203C>G||||||,G|non_coding_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|transcript|ENST00000491016|retained_intron|3/3|n.476C>G||||||
22	29726395	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|21/23|c.2738G>A|p.Arg913Gln|2925/4176|2738/2850|913/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|20/22|c.2717G>A|p.Arg906Gln|2904/4155|2717/2829|906/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|20/21|c.2717G>A|p.Arg906Gln|2904/4146|2717/2820|906/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|20/22|c.2738G>A|p.Arg913Gln|2770/3838|2738/2850|913/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|20/21|c.2657G>A|p.Arg886Gln|2844/3903|2657/2760|886/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|19/20|c.2717G>A|p.Arg906Gln|2749/2935|2717/2820|906/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|19/20|c.2717G>A|p.Arg906Gln|2735/2838|2717/2820|906/939||,T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96G>A|||||2757|,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727G>A|||||1051|,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|4/4|n.834G>A||||||
22	29726624	.	G	A	.	.	ANN=A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|20/23|c.2599C>T|p.Pro867Ser|2786/4176|2599/2850|867/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|19/22|c.2578C>T|p.Pro860Ser|2765/4155|2578/2829|860/942||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|19/21|c.2578C>T|p.Pro860Ser|2765/4146|2578/2820|860/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|19/22|c.2599C>T|p.Pro867Ser|2631/3838|2599/2850|867/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|19/21|c.2518C>T|p.Pro840Ser|2705/3903|2518/2760|840/919||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|18/20|c.2578C>T|p.Pro860Ser|2610/2935|2578/2820|860/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|18/20|c.2578C>T|p.Pro860Ser|2596/2838|2578/2820|860/939||,A|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96C>T|||||2528|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.*727C>T|||||822|,A|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|3/4|n.695C>T||||||
22	29727886	.	T	C	.	.	ANN=C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|18/23|c.2329A>G|p.Thr777Ala|2516/4176|2329/2850|777/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|17/22|c.2308A>G|p.Thr770Ala|2495/4155|2308/2829|770/942||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|17/21|c.2308A>G|p.Thr770Ala|2495/4146|2308/2820|770/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|17/22|c.2329A>G|p.Thr777Ala|2361/3838|2329/2850|777/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|17/21|c.2248A>G|p.Thr750Ala|2435/3903|2248/2760|750/919||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|16/20|c.2308A>G|p.Thr770Ala|2340/2935|2308/2820|770/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|16/20|c.2308A>G|p.Thr770Ala|2326/2838|2308/2820|770/939||,C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|transcript|ENST00000459538|snoRNA||n.*96A>G|||||1266|,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000482818|retained_intron|1/4|n.425A>G||||||,C|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|4/5|n.492A>G||||||
22	29735056	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/23|c.2086G>A|p.Gly696Ser|2273/4176|2086/2850|696/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/22|c.2065G>A|p.Gly689Ser|2252/4155|2065/2829|689/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/21|c.2065G>A|p.Gly689Ser|2252/4146|2065/2820|689/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/22|c.2086G>A|p.Gly696Ser|2118/3838|2086/2850|696/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/21|c.2065G>A|p.Gly689Ser|2252/3903|2065/2760|689/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/20|c.2065G>A|p.Gly689Ser|2097/2935|2065/2820|689/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/20|c.2065G>A|p.Gly689Ser|2083/2838|2065/2820|689/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2086G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2086G>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||2496|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/5|n.249G>A||||||
22	29735065	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|16/23|c.2077G>A|p.Ala693Thr|2264/4176|2077/2850|693/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|15/22|c.2056G>A|p.Ala686Thr|2243/4155|2056/2829|686/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|15/21|c.2056G>A|p.Ala686Thr|2243/4146|2056/2820|686/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|15/22|c.2077G>A|p.Ala693Thr|2109/3838|2077/2850|693/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|15/21|c.2056G>A|p.Ala686Thr|2243/3903|2056/2760|686/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|14/20|c.2056G>A|p.Ala686Thr|2088/2935|2056/2820|686/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|14/20|c.2056G>A|p.Ala686Thr|2074/2838|2056/2820|686/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.2077G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.2077G>A||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||2487|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript|2/5|n.240G>A||||||
22	29737521	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1765G>A|p.Val589Met|1952/4176|1765/2850|589/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1765G>A|p.Val589Met|1952/4155|1765/2829|589/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1765G>A|p.Val589Met|1952/4146|1765/2820|589/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1765G>A|p.Val589Met|1797/3838|1765/2850|589/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1765G>A|p.Val589Met|1952/3903|1765/2760|589/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1765G>A|p.Val589Met|1797/2935|1765/2820|589/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1765G>A|p.Val589Met|1783/2838|1765/2820|589/939||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1765G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1765G>A||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1G>A|||||695|,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>A|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON
22	29737526	.	C	A	.	.	ANN=A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1760G>T|p.Gly587Val|1947/4176|1760/2850|587/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1760G>T|p.Gly587Val|1947/4155|1760/2829|587/942||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1760G>T|p.Gly587Val|1947/4146|1760/2820|587/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1760G>T|p.Gly587Val|1792/3838|1760/2850|587/949||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1760G>T|p.Gly587Val|1947/3903|1760/2760|587/919||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1760G>T|p.Gly587Val|1792/2935|1760/2820|587/939||,A|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1760G>T|p.Gly587Val|1778/2838|1760/2820|587/939||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1760G>T||||||,A|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1760G>T||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1G>T|||||700|,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908G>T|||||26|WARNING_TRANSCRIPT_NO_STOP_CODON
22	29737551	.	T	C	.	.	ANN=C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|13/23|c.1735A>G|p.Ser579Gly|1922/4176|1735/2850|579/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|13/22|c.1735A>G|p.Ser579Gly|1922/4155|1735/2829|579/942||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|13/21|c.1735A>G|p.Ser579Gly|1922/4146|1735/2820|579/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|12/22|c.1735A>G|p.Ser579Gly|1767/3838|1735/2850|579/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|13/21|c.1735A>G|p.Ser579Gly|1922/3903|1735/2760|579/919||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|12/20|c.1735A>G|p.Ser579Gly|1767/2935|1735/2820|579/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|12/20|c.1735A>G|p.Ser579Gly|1753/2838|1735/2820|579/939||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|13/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|16/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|14/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|12/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|15/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|compositionally_biased_region:Pro-rich__stalk_region_|ENST00000405198|protein_coding|13/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|12/22|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|13/21|c.1735A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|12/20|c.1735A>G||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000472057|processed_transcript||n.-1A>G|||||725|,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding||c.*1908A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON
22	29747266	.	A	G	.	.	ANN=G|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding|2/4|c.185T>C|p.Phe62Ser|186/519|185/518|62/171||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|9/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|8/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|8/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|7/22|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|9/21|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|8/21|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|8/20|c.1060-11T>C||||||,G|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|7/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|8/22|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|8/21|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|8/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|7/21|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|8/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|7/19|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|7/19|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|8/12|c.1060-11T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	29752566	.	C	T	.	.	ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|6/23|c.565G>A|p.Glu189Lys|752/4176|565/2850|189/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|6/22|c.565G>A|p.Glu189Lys|752/4155|565/2829|189/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|6/21|c.565G>A|p.Glu189Lys|752/4146|565/2820|189/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|5/22|c.565G>A|p.Glu189Lys|597/3838|565/2850|189/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|6/21|c.565G>A|p.Glu189Lys|752/3903|565/2760|189/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|5/20|c.565G>A|p.Glu189Lys|597/2935|565/2820|189/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|5/20|c.565G>A|p.Glu189Lys|583/2838|565/2820|189/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|6/13|c.565G>A|p.Glu189Lys|739/1908|565/1734|189/577||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|6/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|5/22|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|6/21|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.565G>A||||||,T|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|5/20|c.565G>A||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000415756|protein_coding||c.-2G>A|||||4830|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560G>A|||||3096|
22	29754721	.	G	T	.	.	ANN=T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.519C>A|p.Asn173Lys|706/4176|519/2850|173/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.519C>A|p.Asn173Lys|706/4155|519/2829|173/942||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.519C>A|p.Asn173Lys|706/4146|519/2820|173/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.519C>A|p.Asn173Lys|551/3838|519/2850|173/949||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.519C>A|p.Asn173Lys|706/3903|519/2760|173/919||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.519C>A|p.Asn173Lys|551/2935|519/2820|173/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.519C>A|p.Asn173Lys|537/2838|519/2820|173/939||,T|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.519C>A|p.Asn173Lys|693/1908|519/1734|173/577||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560C>A|||||941|
22	29754770	.	T	C	.	.	ANN=C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000357586|protein_coding|5/23|c.470A>G|p.Glu157Gly|657/4176|470/2850|157/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000356015|protein_coding|5/22|c.470A>G|p.Glu157Gly|657/4155|470/2829|157/942||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000432560|protein_coding|5/21|c.470A>G|p.Glu157Gly|657/4146|470/2820|157/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000405198|protein_coding|4/22|c.470A>G|p.Glu157Gly|502/3838|470/2850|157/949||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000317368|protein_coding|5/21|c.470A>G|p.Glu157Gly|657/3903|470/2760|157/919||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000402502|protein_coding|4/20|c.470A>G|p.Glu157Gly|502/2935|470/2820|157/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000415447|protein_coding|4/20|c.470A>G|p.Glu157Gly|488/2838|470/2820|157/939||,C|missense_variant|MODERATE|AP1B1|ENSG00000100280|transcript|ENST00000421126|protein_coding|5/13|c.470A>G|p.Glu157Gly|644/1908|470/1734|157/577||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000356015|protein_coding|5/22|c.470A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000405198|protein_coding|4/22|c.470A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000317368|protein_coding|5/21|c.470A>G||||||,C|sequence_feature|LOW|AP1B1|ENSG00000100280|helix|ENST00000415447|protein_coding|4/20|c.470A>G||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|transcript|ENST00000473606|retained_intron||n.*560A>G|||||892|
22	29835060	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|1/2|c.280T>C|p.Trp94Arg|489/1496|280/954|94/317||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.*584A>G|||||2184|,C|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.3366A>G||||||
22	29837638	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.481G>A|p.Glu161Lys|690/1496|481/954|161/317||,A|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.481G>A||||||,A|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.481G>A||||||,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.788C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense|1/1|n.190C>T||||||
22	29837978	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.821C>T|p.Ser274Phe|1030/1496|821/954|274/317||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|1/2|c.821C>T||||||,T|sequence_feature|LOW|RFPL1|ENSG00000128250|domain:B30.2/SPRY|ENST00000354373|protein_coding|2/2|c.821C>T||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1G>A|||||151|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.448G>A||||||
22	29838068	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.911C>T|p.Pro304Leu|1120/1496|911/954|304/317||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1G>A|||||241|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.358G>A||||||
22	29838088	.	G	T	.	.	ANN=T|missense_variant|MODERATE|RFPL1|ENSG00000128250|transcript|ENST00000354373|protein_coding|2/2|c.931G>T|p.Val311Phe|1140/1496|931/954|311/317||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000539579|antisense||n.-1C>A|||||261|,T|non_coding_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|transcript|ENST00000461286|antisense|3/3|n.338C>A||||||
22	29879534	.	C	A	.	.	ANN=A|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|2/4|c.1054C>A|p.Arg352Ser|1087/3783|1054/3063|352/1020||
22	29884863	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1234C>T|p.Arg412Trp|1267/3783|1234/3063|412/1020||
22	29884976	.	G	C	.	.	ANN=C|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1347G>C|p.Lys449Asn|1380/3783|1347/3063|449/1020||
22	29885016	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1387G>A|p.Glu463Lys|1420/3783|1387/3063|463/1020||
22	29885256	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1627G>A|p.Glu543Lys|1660/3783|1627/3063|543/1020||
22	29885352	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1723C>T|p.Pro575Ser|1756/3783|1723/3063|575/1020||
22	29885368	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1739C>T|p.Ser580Phe|1772/3783|1739/3063|580/1020||
22	29885412	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.1783C>T|p.Pro595Ser|1816/3783|1783/3063|595/1020||
22	29885956	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2327C>G|p.Ser776Cys|2360/3783|2327/3063|776/1020||
22	29886043	.	A	C	.	.	ANN=C|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2414A>C|p.Glu805Ala|2447/3783|2414/3063|805/1020||
22	29886118	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2489C>T|p.Pro830Leu|2522/3783|2489/3063|830/1020||
22	29886343	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2714C>T|p.Thr905Ile|2747/3783|2714/3063|905/1020||
22	29886382	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2753A>G|p.Glu918Gly|2786/3783|2753/3063|918/1020||
22	29886406	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NEFH|ENSG00000100285|transcript|ENST00000310624|protein_coding|4/4|c.2777C>T|p.Thr926Ile|2810/3783|2777/3063|926/1020||
22	29907200	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/20|c.1883G>A|p.Arg628Gln|2102/2560|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/20|c.1883G>A|p.Arg628Gln|2006/4753|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/21|c.1883G>A|p.Arg628Gln|2218/2676|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/21|c.1883G>A|p.Arg628Gln|2106/2374|1883/2052|628/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*970G>A|||||17116|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1738G>A|||||31730|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>A|||||2678|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*970G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/2|n.232G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1738G>A||||||
22	29907273	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|19/20|c.1810G>A|p.Glu604Lys|2029/2560|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|19/20|c.1810G>A|p.Glu604Lys|1933/4753|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|20/21|c.1810G>A|p.Glu604Lys|2145/2676|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|20/21|c.1810G>A|p.Glu604Lys|2033/2374|1810/2052|604/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*897G>A|||||17043|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1665G>A|||||31657|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>A|||||2605|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|22/23|n.*897G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron|1/2|n.159G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|18/19|n.*1665G>A||||||
22	29908072	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|18/20|c.1735G>A|p.Val579Ile|1954/2560|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|18/20|c.1735G>A|p.Val579Ile|1858/4753|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|19/21|c.1735G>A|p.Val579Ile|2070/2676|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|19/21|c.1735G>A|p.Val579Ile|1958/2374|1735/2052|579/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/23|n.*822G>A|||||16244|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/19|n.*1590G>A|||||30858|,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000472164|retained_intron||n.-1G>A|||||641|,T|downstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.*289G>A|||||1806|,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|21/23|n.*822G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|17/19|n.*1590G>A||||||
22	29913033	.	T	C	.	.	ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|17/20|c.1666A>G|p.Ile556Val|1885/2560|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|17/20|c.1666A>G|p.Ile556Val|1789/4753|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|18/21|c.1666A>G|p.Ile556Val|2001/2676|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|18/21|c.1666A>G|p.Ile556Val|1889/2374|1666/2052|556/683||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/23|n.*753A>G|||||11283|,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/19|n.*1521A>G|||||25897|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909A>G|||||1962|,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3028A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|20/23|n.*753A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|16/19|n.*1521A>G||||||
22	29913272	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|16/20|c.1573G>A|p.Val525Ile|1792/2560|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|16/20|c.1573G>A|p.Val525Ile|1696/4753|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|17/21|c.1573G>A|p.Val525Ile|1908/2676|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|17/21|c.1573G>A|p.Val525Ile|1796/2374|1573/2052|525/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*660G>A|||||11044|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1428G>A|||||25658|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||1723|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3267G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*660G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1428G>A||||||
22	29913278	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|16/20|c.1567G>A|p.Val523Met|1786/2560|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|16/20|c.1567G>A|p.Val523Met|1690/4753|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|17/21|c.1567G>A|p.Val523Met|1902/2676|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|17/21|c.1567G>A|p.Val523Met|1790/2374|1567/2052|523/683||,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*654G>A|||||11038|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1422G>A|||||25652|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.*909G>A|||||1717|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-3273G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|19/23|n.*654G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|15/19|n.*1422G>A||||||
22	29917009	.	G	C	.	.	ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|13/20|c.1255C>G|p.Gln419Glu|1474/2560|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|13/20|c.1255C>G|p.Gln419Glu|1378/4753|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|14/21|c.1255C>G|p.Gln419Glu|1590/2676|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|14/21|c.1255C>G|p.Gln419Glu|1478/2374|1255/2052|419/683||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|16/23|n.*342C>G|||||7307|,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|12/19|n.*1110C>G|||||21921|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.*786C>G|||||4818|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.162-7004C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|16/23|n.*342C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|12/19|n.*1110C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|6/8|n.675C>G||||||
22	29924156	.	C	T	.	.	ANN=T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|11/20|c.977G>A|p.Arg326Lys|1196/2560|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|11/20|c.977G>A|p.Arg326Lys|1100/4753|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|12/21|c.977G>A|p.Arg326Lys|1312/2676|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|12/21|c.977G>A|p.Arg326Lys|1200/2374|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|8/9|c.587G>A|p.Arg196Lys|588/786|587/785|196/260||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|14/23|n.*64G>A|||||160|,T|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|10/19|n.*832G>A|||||14774|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron||n.*550G>A|||||216|,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.*526G>A|||||3386|,T|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+7063G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|14/23|n.*64G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|10/19|n.*832G>A||||||,T|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|4/8|n.397G>A||||||
22	29927873	.	G	A	.	.	ANN=A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.794C>T|p.Pro265Leu|1013/2560|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.794C>T|p.Pro265Leu|917/4753|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.794C>T|p.Pro265Leu|1129/2676|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.794C>T|p.Pro265Leu|1017/2374|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.371C>T|p.Pro124Leu|372/786|371/785|124/260||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*424C>T|||||11057|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935C>T|||||2654|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006C>T|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3346C>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2645C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.794C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*424C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.335C>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.195C>T||||||
22	29927912	.	T	A	.	.	ANN=A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.755A>T|p.Asp252Val|974/2560|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.755A>T|p.Asp252Val|878/4753|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.755A>T|p.Asp252Val|1090/2676|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.755A>T|p.Asp252Val|978/2374|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.332A>T|p.Asp111Val|333/786|332/785|111/260||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*385A>T|||||11018|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935A>T|||||2615|,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006A>T|||||4744|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3307A>T||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2684A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.755A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*385A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.296A>T||||||,A|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.156A>T||||||
22	29927922	.	T	C	.	.	ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|8/20|c.745A>G|p.Met249Val|964/2560|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|8/20|c.745A>G|p.Met249Val|868/4753|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|9/21|c.745A>G|p.Met249Val|1080/2676|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|9/21|c.745A>G|p.Met249Val|968/2374|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|4/9|c.322A>G|p.Met108Val|323/786|322/785|108/260||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*375A>G|||||11008|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron||n.*1935A>G|||||2605|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding||c.*1006A>G|||||4734|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic|1/1|n.161+3297A>G||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron|1/7|n.116-2694A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|9/23|n.745A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|7/19|n.*375A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|3/5|n.286A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron|2/2|n.146A>G||||||
22	29935380	.	T	C	.	.	ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|6/20|c.538A>G|p.Met180Val|757/2560|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|6/20|c.538A>G|p.Met180Val|661/4753|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|7/21|c.538A>G|p.Met180Val|873/2676|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|7/21|c.538A>G|p.Met180Val|761/2374|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding|2/9|c.115A>G|p.Met39Val|116/786|115/785|39/260||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|7/8|c.538A>G|p.Met180Val|873/1006|538/671|180/222||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|5/5|c.526A>G|p.Met176Val|526/579|526/579|176/192||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.538A>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.538A>G||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|5/19|n.*168A>G|||||3550|,C|upstream_gene_variant|MODIFIER|CTA-256D12.11|ENSG00000234208|transcript|ENST00000411969|sense_intronic||n.-1A>G|||||4001|,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000484924|retained_intron||n.-1A>G|||||2653|,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000488052|retained_intron||n.-1A>G|||||2653|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding||c.*729A>G|||||53|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay||n.*330A>G|||||4038|,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding||c.*738A>G|||||4112|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|7/23|n.538A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|5/19|n.*168A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000492707|retained_intron|1/5|n.79A>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|5/7|n.535A>G||||||
22	29940556	.	G	C	.	.	ANN=C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397871|protein_coding|3/20|c.133C>G|p.Leu45Val|352/2560|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000490103|protein_coding|3/20|c.133C>G|p.Leu45Val|256/4753|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397872|protein_coding|4/21|c.133C>G|p.Leu45Val|468/2676|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000397873|protein_coding|4/21|c.133C>G|p.Leu45Val|356/2374|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000440771|protein_coding|4/8|c.133C>G|p.Leu45Val|468/1006|133/671|45/222||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000455450|protein_coding|2/5|c.121C>G|p.Leu41Val|121/579|121/579|41/192||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000428374|protein_coding|3/6|c.133C>G|p.Leu45Val|377/729|133/485|45/160||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|THOC5|ENSG00000100296|transcript|ENST00000418021|protein_coding|5/6|c.133C>G|p.Leu45Val|591/738|133/280|45/92||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|5/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|7/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|4/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|3/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_THOC7|ENST00000397873|protein_coding|6/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|5/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|4/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|3/21|c.133C>G||||||,C|sequence_feature|LOW|THOC5|ENSG00000100296|interacting_region:Interaction_with_CSF1R|ENST00000397873|protein_coding|6/21|c.133C>G||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000443089|protein_coding||c.-2C>G|||||1679|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000414902|nonsense_mediated_decay|4/5|n.120+13C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000442555|nonsense_mediated_decay|4/23|n.133C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000358079|nonsense_mediated_decay|2/19|n.133C>G||||||,C|non_coding_exon_variant|MODIFIER|THOC5|ENSG00000100296|transcript|ENST00000475187|retained_intron|2/7|n.130C>G||||||
22	29966409	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|2/10|c.211C>T|p.Leu71Phe|466/2237|211/855|71/284||,A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|3/8|c.259C>T|p.Leu87Phe|260/661|259/660|87/219||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/7|c.-195C>T|||||8596|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|2/7|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|2/3|n.229C>T||||||
22	29966487	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|2/10|c.133C>T|p.Arg45Cys|388/2237|133/855|45/284||,A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding|3/8|c.181C>T|p.Arg61Cys|182/661|181/660|61/219||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/7|c.-273C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|2/7|c.-273C>T|||||8674|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|2/7|n.133C>T||||||,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|2/3|n.151C>T||||||
22	29977067	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NIPSNAP1|ENSG00000184117|transcript|ENST00000216121|protein_coding|1/10|c.5C>T|p.Ala2Val|260/2237|5/855|2/284||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000415100|protein_coding||c.-2C>T|||||4|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000494966|processed_transcript||n.-1C>T|||||52|,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000437094|protein_coding|1/6|c.-308+110C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000455496|nonsense_mediated_decay|1/7|n.5C>T||||||,A|non_coding_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|transcript|ENST00000496944|retained_intron|1/3|n.23C>T||||||
22	30057201	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|8/16|c.683A>G|p.Lys228Arg|1124/6025|683/1788|228/595||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|3/10|c.206A>G|p.Lys69Arg|649/5250|206/663|69/220||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|8/17|c.683A>G|p.Lys228Arg|1094/2568|683/1686|228/561||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|7/16|c.560A>G|p.Lys187Arg|942/5884|560/1650|187/549||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|8/16|c.683A>G|p.Lys228Arg|1049/2999|683/1773|228/590||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|6/15|c.434A>G|p.Lys145Arg|706/2020|434/1524|145/507||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|6/15|c.434A>G|p.Lys145Arg|686/1845|434/1524|145/507||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|8/17|c.683A>G|p.Lys228Arg|683/1837|683/1773|228/590||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|7/16|c.557A>G|p.Lys186Arg|557/1716|557/1647|186/548||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|8/17|c.683A>G|p.Lys228Arg|683/1857|683/1773|228/590||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|10/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|4/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|1/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|5/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|2/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|6/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|3/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|9/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|7/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000338641|protein_coding|8/16|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|10/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|4/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|1/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|5/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|2/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|6/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|3/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|9/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|7/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000403435|protein_coding|8/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|10/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|4/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|5/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|1/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|2/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|6/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|3/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|9/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|7/17|c.683A>G||||||,G|sequence_feature|LOW|NF2|ENSG00000186575|domain:FERM|ENST00000361166|protein_coding|8/17|c.683A>G||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.447+18927A>G||||||,G|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|3/8|n.206A>G||||||
22	30070923	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|13/16|c.1439C>T|p.Thr480Met|1880/6025|1439/1788|480/595||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|13/17|c.1352C>T|p.Thr451Met|1763/2568|1352/1686|451/561||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|12/16|c.1316C>T|p.Thr439Met|1698/5884|1316/1650|439/549||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|13/16|c.1439C>T|p.Thr480Met|1805/2999|1439/1773|480/590||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|11/15|c.1190C>T|p.Thr397Met|1462/2020|1190/1524|397/507||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|11/15|c.1190C>T|p.Thr397Met|1442/1845|1190/1524|397/507||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|13/17|c.1439C>T|p.Thr480Met|1439/1837|1439/1773|480/590||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|12/16|c.1313C>T|p.Thr438Met|1313/1716|1313/1647|438/548||,T|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|13/17|c.1439C>T|p.Thr480Met|1439/1857|1439/1773|480/590||,T|synonymous_variant|LOW|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|6/10|c.621C>T|p.His207His|1064/5250|621/663|207/220||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-19818C>T||||||,T|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|6/8|n.621C>T||||||
22	30074278	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|14/16|c.1540A>G|p.Met514Val|1981/6025|1540/1788|514/595||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403435|protein_coding|14/17|c.1453A>G|p.Met485Val|1864/2568|1453/1686|485/561||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|13/16|c.1417A>G|p.Met473Val|1799/5884|1417/1650|473/549||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000403999|protein_coding|14/16|c.1540A>G|p.Met514Val|1906/2999|1540/1773|514/590||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000334961|protein_coding|12/15|c.1291A>G|p.Met431Val|1563/2020|1291/1524|431/507||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|12/15|c.1291A>G|p.Met431Val|1543/1845|1291/1524|431/507||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|14/17|c.1540A>G|p.Met514Val|1540/1837|1540/1773|514/590||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|13/16|c.1414A>G|p.Met472Val|1414/1716|1414/1647|472/548||,G|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|14/17|c.1540A>G|p.Met514Val|1540/1857|1540/1773|514/590||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|7/10|c.*59A>G|||||59|,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/8|n.*59A>G|||||59|,G|intron_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|4/4|c.448-16463A>G||||||,G|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|7/8|n.*59A>G||||||
22	30090756	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000338641|protein_coding|16/16|c.1753G>A|p.Ala585Thr|2194/6025|1753/1788|585/595||,A|missense_variant|MODERATE|NF2|ENSG00000186575|transcript|ENST00000413209|protein_coding|5/5|c.463G>A|p.Ala155Thr|906/4733|463/498|155/165||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000347330|protein_coding|10/10|c.*317G>A|||||16537|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361452|protein_coding|16/16|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000353887|protein_coding|15/15|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|8/8|n.*109G>A|||||16537|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361166|protein_coding|17/17|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000361676|protein_coding|16/16|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000397789|protein_coding|17/17|c.*40G>A|||||11712|,A|non_coding_exon_variant|MODIFIER|NF2|ENSG00000186575|transcript|ENST00000432151|nonsense_mediated_decay|8/8|n.*109G>A||||||
22	30124708	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|3/5|c.343G>A|p.Asp115Asn|684/3259|343/648|115/215||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|3/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|4/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|5/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|2/5|c.343G>A||||||,A|sequence_feature|LOW|CABP7|ENSG00000100314|topological_domain:Cytoplasmic|ENST00000216144|protein_coding|1/5|c.343G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||2237|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||2240|
22	30125490	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CABP7|ENSG00000100314|transcript|ENST00000216144|protein_coding|5/5|c.580G>A|p.Ala194Thr|921/3259|580/648|194/215||,A|sequence_feature|LOW|CABP7|ENSG00000100314|transmembrane_region:Transmembrane_region|ENST00000216144|protein_coding|5/5|c.580G>A||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.*630C>T|||||1455|,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.*764C>T|||||1458|
22	30136701	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding|4/6|c.209C>G|p.Ser70Cys|326/899|209/513|70/170||,C|missense_variant|MODERATE|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding|5/7|c.209C>G|p.Ser70Cys|460/1030|209/513|70/170||,C|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|4/6|c.209C>G||||||,C|sequence_feature|LOW|ZMAT5|ENSG00000100319|zinc_finger_region:C3H1-type|ENST00000344318|protein_coding|3/6|c.209C>G||||||
22	30163526	.	A	G	.	.	ANN=G|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/2|c.139A>G|p.Ile47Val|169/916|139/192|47/63||,G|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.139A>G|p.Ile47Val|164/584|139/189|47/62||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118T>C|||||576|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252T>C|||||557|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1T>C|||||526|
22	30163571	.	G	A,T	.	.	ANN=A|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.184G>A|p.Ala62Thr|209/584|184/189|62/62||,T|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|1/2|c.184G>T|p.Ala62Ser|209/584|184/189|62/62||,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118C>T|||||621|,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118C>A|||||621|,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252C>T|||||602|,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252C>A|||||602|,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1C>T|||||571|,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1C>A|||||571|,A|intron_variant|MODIFIER|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/1|c.150+34G>A||||||,T|intron_variant|MODIFIER|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|1/1|c.150+34G>T||||||
22	30165686	.	A	G	.	.	ANN=G|missense_variant|MODERATE|UQCR10|ENSG00000184076|transcript|ENST00000330029|protein_coding|2/2|c.170A>G|p.Lys57Arg|200/916|170/192|57/63||,G|3_prime_UTR_variant|MODIFIER|UQCR10|ENSG00000184076|transcript|ENST00000401406|protein_coding|2/2|c.*40A>G|||||2110|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000344318|protein_coding||c.-118T>C|||||2736|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000397781|protein_coding||c.-252T>C|||||2717|,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|transcript|ENST00000489010|retained_intron||n.-1T>C|||||2686|
22	30185114	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|20/20|c.2162G>A|p.Arg721His|2276/2793|2162/2274|721/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|21/21|c.2162G>A|p.Arg721His|2340/2823|2162/2274|721/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|19/19|c.1934G>A|p.Arg645His|2048/2291|1934/2046|645/681||,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|21/21|n.*2051G>A|||||38443|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.*261G>A|||||4452|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.*198G>A|||||4462|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-273G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|7/7|n.1082G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|21/21|n.*2051G>A||||||
22	30189592	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|16/20|c.1762G>A|p.Glu588Lys|1876/2793|1762/2274|588/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|17/21|c.1762G>A|p.Glu588Lys|1940/2823|1762/2274|588/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|15/19|c.1534G>A|p.Glu512Lys|1648/2291|1534/2046|512/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|3/3|c.235G>A|p.Glu79Lys|235/261|235/261|79/86||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1651G>A|||||33965|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4751G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/7|n.596G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1651G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript|2/2|n.182G>A||||||
22	30189642	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|16/20|c.1712G>A|p.Arg571Gln|1826/2793|1712/2274|571/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|17/21|c.1712G>A|p.Arg571Gln|1890/2823|1712/2274|571/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|15/19|c.1484G>A|p.Arg495Gln|1598/2291|1484/2046|495/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|3/3|c.185G>A|p.Arg62Gln|185/261|185/261|62/86||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1601G>A|||||33915|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.297-4801G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|4/7|n.546G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|17/21|n.*1601G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript|2/2|n.132G>A||||||
22	30197031	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|15/20|c.1637A>G|p.Asp546Gly|1751/2793|1637/2274|546/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|16/21|c.1637A>G|p.Asp546Gly|1815/2823|1637/2274|546/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|14/19|c.1409A>G|p.Asp470Gly|1523/2291|1409/2046|470/681||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|2/3|c.110A>G|p.Asp37Gly|110/261|110/261|37/86||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|16/21|n.*1526A>G|||||26526|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1A>G|||||1740|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+5755A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|3/7|n.471A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|16/21|n.*1526A>G||||||
22	30198025	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/20|c.1526G>A|p.Arg509Gln|1640/2793|1526/2274|509/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/21|c.1526G>A|p.Arg509Gln|1704/2823|1526/2274|509/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/19|c.1298G>A|p.Arg433Gln|1412/2291|1298/2046|433/681||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000307790|protein_coding|14/20|c.1526G>A||||||,T|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000542393|protein_coding|13/19|c.1298G>A||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1G>A|||||2734|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>A|||||4178|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>A|||||4800|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4761G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/20|n.*1457+79G>A||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|1/2|c.41+26G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/7|n.360G>A||||||
22	30198063	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding|1/3|c.29C>T|p.Thr10Met|29/261|29/261|10/86||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|14/20|c.1488C>T|p.Tyr496Tyr|1602/2793|1488/2274|496/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|15/21|c.1488C>T|p.Tyr496Tyr|1666/2823|1488/2274|496/757||,A|synonymous_variant|LOW|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|13/19|c.1260C>T|p.Tyr420Tyr|1374/2291|1260/2046|420/681||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000307790|protein_coding|14/20|c.1488C>T||||||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|turn|ENST00000307790|protein_coding|14/20|c.1488C>T||||||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|domain:CUE|ENST00000542393|protein_coding|13/19|c.1260C>T||||||,A|sequence_feature|LOW|ASCC2|ENSG00000100325|turn|ENST00000542393|protein_coding|13/19|c.1260C>T||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000483380|processed_transcript||n.-1C>T|||||2772|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||4140|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||4762|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+4723C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|15/20|n.*1457+41C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|2/7|n.322C>T||||||
22	30200643	.	T	A	.	.	ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1337A>T|p.Asn446Ile|1451/2793|1337/2274|446/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1337A>T|p.Asn446Ile|1515/2823|1337/2274|446/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.1109A>T|p.Asn370Ile|1223/2291|1109/2046|370/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1347A>T|||||22914|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1A>T|||||2552|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827A>T|||||1560|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538A>T|||||2182|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2143A>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.171A>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1347A>T||||||
22	30200713	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1267C>T|p.Pro423Ser|1381/2793|1267/2274|423/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1267C>T|p.Pro423Ser|1445/2823|1267/2274|423/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.1039C>T|p.Pro347Ser|1153/2291|1039/2046|347/681||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1277C>T|||||22844|,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1C>T|||||2622|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827C>T|||||1490|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538C>T|||||2112|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2073C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.101C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1277C>T||||||
22	30200760	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1220A>G|p.Asp407Gly|1334/2793|1220/2274|407/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1220A>G|p.Asp407Gly|1398/2823|1220/2274|407/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.992A>G|p.Asp331Gly|1106/2291|992/2046|331/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1230A>G|||||22797|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1A>G|||||2669|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827A>G|||||1443|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538A>G|||||2065|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2026A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.54A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1230A>G||||||
22	30200761	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|13/20|c.1219G>C|p.Asp407His|1333/2793|1219/2274|407/757||,G|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|14/21|c.1219G>C|p.Asp407His|1397/2823|1219/2274|407/757||,G|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|12/19|c.991G>C|p.Asp331His|1105/2291|991/2046|331/681||,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1229G>C|||||22796|,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1G>C|||||2670|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript||n.*827G>C|||||1442|,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538G>C|||||2064|,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/3|n.296+2025G>C||||||,G|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron|1/7|n.53G>C||||||,G|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|14/21|n.*1229G>C||||||
22	30202795	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|10/20|c.1007T>G|p.Leu336Arg|1121/2793|1007/2274|336/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|11/21|c.1007T>G|p.Leu336Arg|1185/2823|1007/2274|336/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|9/19|c.779T>G|p.Leu260Arg|893/2291|779/2046|260/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/21|n.*1017T>G|||||20762|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000487486|retained_intron||n.-1T>G|||||1982|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000411532|protein_coding||c.-1T>G|||||4704|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.*538T>G|||||30|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|3/4|n.287T>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|11/21|n.*1017T>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|7/9|n.672T>G||||||
22	30209434	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|8/20|c.818A>G|p.His273Arg|932/2793|818/2274|273/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|9/21|c.818A>G|p.His273Arg|996/2823|818/2274|273/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|7/19|c.590A>G|p.His197Arg|704/2291|590/2046|197/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*828A>G|||||14123|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1A>G|||||3157|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay||n.*485A>G|||||26|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873A>G|||||1212|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554A>G|||||1761|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|1/4|n.98A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*828A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|5/9|n.483A>G||||||
22	30209489	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|8/20|c.763A>G|p.Thr255Ala|877/2793|763/2274|255/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|9/21|c.763A>G|p.Thr255Ala|941/2823|763/2274|255/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|7/19|c.535A>G|p.Thr179Ala|649/2291|535/2046|179/681||,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*773A>G|||||14068|,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|7/7|n.*66A>G|||||1180|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000464287|processed_transcript||n.-1A>G|||||3212|,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding||c.*873A>G|||||1157|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript||n.*554A>G|||||1706|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript|1/4|n.43A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|9/21|n.*773A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|5/9|n.428A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|7/7|n.*66A>G||||||
22	30212006	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|6/20|c.598A>G|p.Thr200Ala|712/2793|598/2274|200/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|7/21|c.598A>G|p.Thr200Ala|776/2823|598/2274|200/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|5/19|c.370A>G|p.Thr124Ala|484/2291|370/2046|124/681||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|7/8|c.598A>G|p.Thr200Ala|751/873|598/720|200/239||WARNING_TRANSCRIPT_NO_STOP_CODON,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|7/21|n.*608A>G|||||11551|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000472433|processed_transcript||n.-1A>G|||||2475|,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|7/21|n.*608A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000478812|processed_transcript|2/9|n.145A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|5/7|n.138A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|4/5|n.455A>G||||||
22	30221120	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.367G>A|p.Val123Ile|481/2793|367/2274|123/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.367G>A|p.Val123Ile|545/2823|367/2274|123/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.208G>A|p.Val70Ile|322/2291|208/2046|70/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.367G>A|p.Val123Ile|520/873|367/720|123/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.367G>A|p.Val123Ile|384/742|367/725|123/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*377G>A|||||2437|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*343G>A|||||8467|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||30|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||83|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||563|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7114G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*377G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.224G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.509G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.492G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.463G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*343G>A||||||
22	30221122	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.365G>A|p.Ser122Asn|479/2793|365/2274|122/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.365G>A|p.Ser122Asn|543/2823|365/2274|122/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.206G>A|p.Ser69Asn|320/2291|206/2046|69/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.365G>A|p.Ser122Asn|518/873|365/720|122/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.365G>A|p.Ser122Asn|382/742|365/725|122/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*375G>A|||||2435|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*341G>A|||||8465|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||28|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||81|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||561|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7112G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*375G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.222G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.507G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.226G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.490G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.461G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*341G>A||||||
22	30221125	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.362G>A|p.Arg121Gln|476/2793|362/2274|121/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.362G>A|p.Arg121Gln|540/2823|362/2274|121/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.203G>A|p.Arg68Gln|317/2291|203/2046|68/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.362G>A|p.Arg121Gln|515/873|362/720|121/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.362G>A|p.Arg121Gln|379/742|362/725|121/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*372G>A|||||2432|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*338G>A|||||8462|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron||n.*568G>A|||||25|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||78|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||558|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7109G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*372G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.219G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.504G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.223G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.487G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.458G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*338G>A||||||
22	30221177	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.310G>A|p.Glu104Lys|424/2793|310/2274|104/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.310G>A|p.Glu104Lys|488/2823|310/2274|104/757||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.151G>A|p.Glu51Lys|265/2291|151/2046|51/681||,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.310G>A|p.Glu104Lys|463/873|310/720|104/239||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.310G>A|p.Glu104Lys|327/742|310/725|104/240||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*320G>A|||||2380|,T|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*286G>A|||||8410|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554G>A|||||26|,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291G>A|||||506|,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7057G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*320G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.167G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.452G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.171G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.435G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.406G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*286G>A||||||,T|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|5/5|n.541G>A||||||
22	30221201	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|4/20|c.286C>T|p.Arg96Cys|400/2793|286/2274|96/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|5/21|c.286C>T|p.Arg96Cys|464/2823|286/2274|96/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|3/19|c.127C>T|p.Arg43Cys|241/2291|127/2046|43/681||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|5/8|c.286C>T|p.Arg96Cys|439/873|286/720|96/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|3/5|c.286C>T|p.Arg96Cys|303/742|286/725|96/240||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*296C>T|||||2356|,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*262C>T|||||8386|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron||n.*554C>T|||||2|,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay||n.*291C>T|||||482|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+7033C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|5/21|n.*296C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|2/5|n.143C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|5/6|n.428C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron|1/2|n.147C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|4/4|n.411C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|2/2|n.382C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|5/5|n.*262C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|5/5|n.517C>T||||||
22	30221712	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|3/20|c.139A>G|p.Asn47Asp|253/2793|139/2274|47/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|4/21|c.139A>G|p.Asn47Asp|317/2823|139/2274|47/757||,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|4/8|c.139A>G|p.Asn47Asp|292/873|139/720|47/239||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|2/5|c.139A>G|p.Asn47Asp|156/742|139/725|47/240||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*149A>G|||||1845|,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*115A>G|||||7875|,C|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|5/5|n.*149A>G|||||1845|,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000463203|retained_intron||n.-1A>G|||||365|,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/18|c.82-466A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/6|n.81+6522A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.98-466A>G||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/1|n.337-466A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|4/21|n.*149A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|4/6|n.281A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|3/4|n.264A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|4/5|n.*115A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|4/5|n.370A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000477074|retained_intron|1/2|n.409A>G||||||,C|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|5/5|n.*149A>G||||||
22	30228238	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/20|c.77C>T|p.Ala26Val|191/2793|77/2274|26/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/21|c.77C>T|p.Ala26Val|255/2823|77/2274|26/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/19|c.77C>T|p.Ala26Val|191/2291|77/2046|26/681||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/8|c.77C>T|p.Ala26Val|230/873|77/720|26/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/5|c.77C>T|p.Ala26Val|94/742|77/725|26/240||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562C>T|||||1837|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5929C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2193C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1292C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/21|n.77C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/7|n.77C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/6|n.219C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/2|n.332C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/5|n.308C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/5|n.77C>T||||||
22	30228268	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000307790|protein_coding|2/20|c.47C>T|p.Pro16Leu|161/2793|47/2274|16/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000397771|protein_coding|3/21|c.47C>T|p.Pro16Leu|225/2823|47/2274|16/757||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000542393|protein_coding|2/19|c.47C>T|p.Pro16Leu|161/2291|47/2046|16/681||,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000431535|protein_coding|3/8|c.47C>T|p.Pro16Leu|200/873|47/720|16/239||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ASCC2|ENSG00000100325|transcript|ENST00000412689|protein_coding|1/5|c.47C>T|p.Pro16Leu|64/742|47/725|16/240||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000492821|retained_intron||n.*562C>T|||||1807|,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495967|processed_transcript|1/4|n.97+5899C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000495681|retained_intron|2/3|n.206+2163C>T||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000453160|nonsense_mediated_decay|3/4|n.*57+1262C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000458594|nonsense_mediated_decay|2/21|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000449900|nonsense_mediated_decay|4/7|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000465667|retained_intron|3/6|n.189C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000462454|retained_intron|1/2|n.302C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000460313|retained_intron|3/5|n.278C>T||||||,A|non_coding_exon_variant|MODIFIER|ASCC2|ENSG00000100325|transcript|ENST00000454854|nonsense_mediated_decay|3/5|n.47C>T||||||
22	30398922	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|9/20|c.611A>C|p.Lys204Thr|953/6018|611/3597|204/1198||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|9/20|c.611A>C|p.Lys204Thr|939/8906|611/3513|204/1170||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|8/19|c.203A>C|p.Lys68Thr|823/5866|203/3189|68/1062||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|9/19|c.611A>C|p.Lys204Thr|895/4464|611/3486|204/1161||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|7/18|c.611A>C|p.Lys204Thr|620/3758|611/3513|204/1170||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.611A>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.611A>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.-1A>C|||||962|
22	30403941	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|11/20|c.929A>G|p.Gln310Arg|1271/6018|929/3597|310/1198||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|11/20|c.929A>G|p.Gln310Arg|1257/8906|929/3513|310/1170||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|10/19|c.521A>G|p.Gln174Arg|1141/5866|521/3189|174/1062||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|11/19|c.929A>G|p.Gln310Arg|1213/4464|929/3486|310/1161||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|9/18|c.929A>G|p.Gln310Arg|938/3758|929/3513|310/1170||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.929A>G||||||,G|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.929A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense||n.*902T>C|||||790|,G|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript|3/3|n.385A>G||||||
22	30408427	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|13/20|c.1192G>A|p.Val398Ile|1534/6018|1192/3597|398/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|13/20|c.1192G>A|p.Val398Ile|1520/8906|1192/3513|398/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|12/19|c.784G>A|p.Val262Ile|1404/5866|784/3189|262/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|13/19|c.1192G>A|p.Val398Ile|1476/4464|1192/3486|398/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|11/18|c.1192G>A|p.Val398Ile|1201/3758|1192/3513|398/1170||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1192G>A||||||,A|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1192G>A||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000487907|processed_transcript||n.*408G>A|||||4463|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-3242C>T||||||
22	30409367	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|14/20|c.1340T>C|p.Met447Thr|1682/6018|1340/3597|447/1198||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|14/20|c.1340T>C|p.Met447Thr|1668/8906|1340/3513|447/1170||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|13/19|c.932T>C|p.Met311Thr|1552/5866|932/3189|311/1062||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|14/19|c.1340T>C|p.Met447Thr|1624/4464|1340/3486|447/1161||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|12/18|c.1340T>C|p.Met447Thr|1349/3758|1340/3513|447/1170||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1340T>C||||||,C|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1340T>C||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1T>C|||||4305|,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-4182A>G||||||
22	30409523	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|14/20|c.1496C>T|p.Ala499Val|1838/6018|1496/3597|499/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|14/20|c.1496C>T|p.Ala499Val|1824/8906|1496/3513|499/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|13/19|c.1088C>T|p.Ala363Val|1708/5866|1088/3189|363/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|14/19|c.1496C>T|p.Ala499Val|1780/4464|1496/3486|499/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|12/18|c.1496C>T|p.Ala499Val|1505/3758|1496/3513|499/1170||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|11/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|9/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|16/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|14/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|10/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|12/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|15/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|13/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000401950|protein_coding|8/20|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|11/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|9/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|16/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|14/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|10/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|12/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|15/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|13/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000351488|protein_coding|8/19|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|9/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|7/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|14/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|12/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|8/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|10/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|13/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|11/18|c.1496C>T||||||,T|sequence_feature|LOW|MTMR3|ENSG00000100330|domain:Myotubularin_phosphatase|ENST00000406629|protein_coding|6/18|c.1496C>T||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.-1C>T|||||4149|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|4/4|n.448-4338G>A||||||
22	30415666	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2018C>T|p.Pro673Leu|2360/6018|2018/3597|673/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2018C>T|p.Pro673Leu|2346/8906|2018/3513|673/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1610C>T|p.Pro537Leu|2230/5866|1610/3189|537/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2018C>T|p.Pro673Leu|2302/4464|2018/3486|673/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2018C>T|p.Pro673Leu|2027/3758|2018/3513|673/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2786|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||26|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-948G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-948G>A||||||
22	30415669	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2021G>T|p.Gly674Val|2363/6018|2021/3597|674/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2021G>T|p.Gly674Val|2349/8906|2021/3513|674/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1613G>T|p.Gly538Val|2233/5866|1613/3189|538/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2021G>T|p.Gly674Val|2305/4464|2021/3486|674/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2021G>T|p.Gly674Val|2030/3758|2021/3513|674/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>T|||||2783|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>T|||||29|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-951C>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-951C>A||||||
22	30415938	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2290G>T|p.Gly764Cys|2632/6018|2290/3597|764/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2290G>T|p.Gly764Cys|2618/8906|2290/3513|764/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1882G>T|p.Gly628Cys|2502/5866|1882/3189|628/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2290G>T|p.Gly764Cys|2574/4464|2290/3486|764/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2290G>T|p.Gly764Cys|2299/3758|2290/3513|764/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>T|||||2514|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>T|||||298|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1220C>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1220C>A||||||
22	30415983	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2335C>T|p.Leu779Phe|2677/6018|2335/3597|779/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2335C>T|p.Leu779Phe|2663/8906|2335/3513|779/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1927C>T|p.Leu643Phe|2547/5866|1927/3189|643/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2335C>T|p.Leu779Phe|2619/4464|2335/3486|779/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2335C>T|p.Leu779Phe|2344/3758|2335/3513|779/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2469|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||343|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1265G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1265G>A||||||
22	30416038	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2390G>A|p.Arg797Gln|2732/6018|2390/3597|797/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2390G>A|p.Arg797Gln|2718/8906|2390/3513|797/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.1982G>A|p.Arg661Gln|2602/5866|1982/3189|661/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2390G>A|p.Arg797Gln|2674/4464|2390/3486|797/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2390G>A|p.Arg797Gln|2399/3758|2390/3513|797/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2414|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||398|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1320C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1320C>T||||||
22	30416057	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2409G>T|p.Glu803Asp|2751/6018|2409/3597|803/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2409G>T|p.Glu803Asp|2737/8906|2409/3513|803/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2001G>T|p.Glu667Asp|2621/5866|2001/3189|667/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2409G>T|p.Glu803Asp|2693/4464|2409/3486|803/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2409G>T|p.Glu803Asp|2418/3758|2409/3513|803/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>T|||||2395|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>T|||||417|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1339C>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1339C>A||||||
22	30416107	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2459A>G|p.Tyr820Cys|2801/6018|2459/3597|820/1198||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2459A>G|p.Tyr820Cys|2787/8906|2459/3513|820/1170||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2051A>G|p.Tyr684Cys|2671/5866|2051/3189|684/1062||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2459A>G|p.Tyr820Cys|2743/4464|2459/3486|820/1161||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2459A>G|p.Tyr820Cys|2468/3758|2459/3513|820/1170||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1A>G|||||2345|,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>G|||||467|,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1389T>C||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1389T>C||||||
22	30416131	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2483T>C|p.Leu828Pro|2825/6018|2483/3597|828/1198||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2483T>C|p.Leu828Pro|2811/8906|2483/3513|828/1170||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2075T>C|p.Leu692Pro|2695/5866|2075/3189|692/1062||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2483T>C|p.Leu828Pro|2767/4464|2483/3486|828/1161||,C|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2483T>C|p.Leu828Pro|2492/3758|2483/3513|828/1170||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1T>C|||||2321|,C|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562T>C|||||491|,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1413A>G||||||,C|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1413A>G||||||
22	30416292	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2644C>T|p.Pro882Ser|2986/6018|2644/3597|882/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2644C>T|p.Pro882Ser|2972/8906|2644/3513|882/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2236C>T|p.Pro746Ser|2856/5866|2236/3189|746/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2644C>T|p.Pro882Ser|2928/4464|2644/3486|882/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2644C>T|p.Pro882Ser|2653/3758|2644/3513|882/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||2160|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||652|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1574G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1574G>A||||||
22	30416350	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2702G>A|p.Arg901Lys|3044/6018|2702/3597|901/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2702G>A|p.Arg901Lys|3030/8906|2702/3513|901/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2294G>A|p.Arg765Lys|2914/5866|2294/3189|765/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2702G>A|p.Arg901Lys|2986/4464|2702/3486|901/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2702G>A|p.Arg901Lys|2711/3758|2702/3513|901/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2102|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||710|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1632C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1632C>T||||||
22	30416362	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2714G>A|p.Gly905Asp|3056/6018|2714/3597|905/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2714G>A|p.Gly905Asp|3042/8906|2714/3513|905/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2306G>A|p.Gly769Asp|2926/5866|2306/3189|769/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2714G>A|p.Gly905Asp|2998/4464|2714/3486|905/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2714G>A|p.Gly905Asp|2723/3758|2714/3513|905/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2090|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||722|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1644C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1644C>T||||||
22	30416383	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2735G>A|p.Arg912His|3077/6018|2735/3597|912/1198||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2735G>A|p.Arg912His|3063/8906|2735/3513|912/1170||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2327G>A|p.Arg776His|2947/5866|2327/3189|776/1062||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2735G>A|p.Arg912His|3019/4464|2735/3486|912/1161||,A|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2735G>A|p.Arg912His|2744/3758|2735/3513|912/1170||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1G>A|||||2069|,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562G>A|||||743|,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1665C>T||||||,A|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1665C>T||||||
22	30416490	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2842C>T|p.Leu948Phe|3184/6018|2842/3597|948/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2842C>T|p.Leu948Phe|3170/8906|2842/3513|948/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2434C>T|p.Leu812Phe|3054/5866|2434/3189|812/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2842C>T|p.Leu948Phe|3126/4464|2842/3486|948/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2842C>T|p.Leu948Phe|2851/3758|2842/3513|948/1170||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1C>T|||||1962|,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562C>T|||||850|,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1772G>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1772G>A||||||
22	30416527	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|17/20|c.2879A>G|p.Asn960Ser|3221/6018|2879/3597|960/1198||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|17/20|c.2879A>G|p.Asn960Ser|3207/8906|2879/3513|960/1170||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|16/19|c.2471A>G|p.Asn824Ser|3091/5866|2471/3189|824/1062||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|17/19|c.2879A>G|p.Asn960Ser|3163/4464|2879/3486|960/1161||,G|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|15/18|c.2879A>G|p.Asn960Ser|2888/3758|2879/3513|960/1170||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron||n.-1A>G|||||1925|,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000492087|retained_intron||n.*562A>G|||||887|,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-1809T>C||||||,G|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-1809T>C||||||
22	30421786	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000401950|protein_coding|20/20|c.3593A>T|p.Asn1198Ile|3935/6018|3593/3597|1198/1198||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000333027|protein_coding|20/20|c.3509A>T|p.Asn1170Ile|3837/8906|3509/3513|1170/1170||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000323630|protein_coding|19/19|c.3185A>T|p.Asn1062Ile|3805/5866|3185/3189|1062/1062||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000351488|protein_coding|19/19|c.3482A>T|p.Asn1161Ile|3766/4464|3482/3486|1161/1161||,T|missense_variant|MODERATE|MTMR3|ENSG00000100330|transcript|ENST00000406629|protein_coding|18/18|c.3509A>T|p.Asn1170Ile|3518/3758|3509/3513|1170/1170||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000429350|antisense|3/4|n.335-7068T>A||||||,T|intron_variant|MODIFIER|CTA-85E5.10|ENSG00000227117|transcript|ENST00000453743|antisense|2/2|n.483-7068T>A||||||,T|non_coding_exon_variant|MODIFIER|MTMR3|ENSG00000100330|transcript|ENST00000491251|retained_intron|2/2|n.403A>T||||||
22	30489945	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|2/11|c.4G>A|p.Ala2Thr|359/2187|4/924|2/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|2/11|c.4G>A|p.Ala2Thr|289/2115|4/924|2/307||,A|upstream_gene_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron||n.-1G>A|||||2|,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|2/9|n.4G>A||||||
22	30494847	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/11|c.58G>C|p.Val20Leu|413/2187|58/924|20/307||,C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/11|c.58G>C|p.Val20Leu|343/2115|58/924|20/307||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/9|n.58G>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/4|n.53G>C||||||
22	30494910	.	A	G	.	.	ANN=G|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/11|c.121A>G|p.Thr41Ala|476/2187|121/924|41/307||,G|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/11|c.121A>G|p.Thr41Ala|406/2115|121/924|41/307||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.121A>G||||||,G|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.121A>G||||||,G|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/9|n.121A>G||||||,G|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/4|n.116A>G||||||
22	30494958	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|3/11|c.169T>C|p.Ser57Pro|524/2187|169/924|57/307||,C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|3/11|c.169T>C|p.Ser57Pro|454/2115|169/924|57/307||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.169T>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.169T>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|3/9|n.169T>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|2/4|n.164T>C||||||
22	30499486	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|4/11|c.254G>A|p.Arg85Lys|609/2187|254/924|85/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|4/11|c.254G>A|p.Arg85Lys|539/2115|254/924|85/307||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.254G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.254G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-85E5.7|ENSG00000226573|transcript|ENST00000423857|processed_pseudogene||n.*315C>T|||||1597|,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|4/9|n.254G>A||||||,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000491605|retained_intron|3/4|n.249G>A||||||
22	30517650	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|9/11|c.440G>A|p.Gly147Glu|795/2187|440/924|147/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|9/11|c.440G>A|p.Gly147Glu|725/2115|440/924|147/307||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.440G>A||||||,A|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.440G>A||||||,A|3_prime_UTR_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*127G>A|||||9847|,A|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*127G>A||||||
22	30517756	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|9/11|c.546G>C|p.Met182Ile|901/2187|546/924|182/307||,C|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|9/11|c.546G>C|p.Met182Ile|831/2115|546/924|182/307||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|5/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|7/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|6/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|3/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|4/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|8/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|10/11|c.546G>C||||||,C|sequence_feature|LOW|HORMAD2|ENSG00000176635|domain:HORMA|ENST00000403975|protein_coding|9/11|c.546G>C||||||,C|3_prime_UTR_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*233G>C|||||9953|,C|non_coding_exon_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay|8/9|n.*233G>C||||||
22	30518166	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000336726|protein_coding|10/11|c.782G>A|p.Gly261Asp|1137/2187|782/924|261/307||,A|missense_variant|MODERATE|HORMAD2|ENSG00000176635|transcript|ENST00000403975|protein_coding|10/11|c.782G>A|p.Gly261Asp|1067/2115|782/924|261/307||,A|downstream_gene_variant|MODIFIER|HORMAD2|ENSG00000176635|transcript|ENST00000450612|nonsense_mediated_decay||n.*333G>A|||||144|
22	30639834	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.415G>A|p.Ala139Thr|571/3969|415/609|139/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.236G>A|p.Arg79His|280/592|236/267|79/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.415G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.415G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.415G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2360|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||2150|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3307|
22	30639835	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.235C>T|p.Arg79Cys|279/592|235/267|79/88||,A|sequence_feature|MODERATE|LIF|ENSG00000128342|glycosylation_site:N-linked__GlcNAc..._|ENST00000249075|protein_coding|3/3|c.414C>T||||||,A|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.414C>T|p.Asn138Asn|570/3969|414/609|138/202||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.414C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.414C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.414C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||2359|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||2149|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||3308|
22	30639969	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.280G>A|p.Ala94Thr|436/3969|280/609|94/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.101G>A|p.Arg34His|145/592|101/267|34/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.280G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.280G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|beta_strand|ENST00000249075|protein_coding|3/3|c.280G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2225|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||2015|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3442|
22	30639993	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.256G>A|p.Val86Met|412/3969|256/609|86/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.77G>A|p.Arg26His|121/592|77/267|26/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.256G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.256G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2201|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||1991|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3466|
22	30639994	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.76C>T|p.Arg26Cys|120/592|76/267|26/88||,A|sequence_feature|MODERATE|LIF|ENSG00000128342|glycosylation_site:N-linked__GlcNAc..._|ENST00000249075|protein_coding|3/3|c.255C>T||||||,A|synonymous_variant|LOW|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.255C>T|p.Asn85Asn|411/3969|255/609|85/202||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.255C>T||||||,A|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.255C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1G>A|||||2200|,A|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1G>A|||||1990|,A|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808G>A|||||3467|
22	30640044	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|3/3|c.205G>A|p.Ala69Thr|361/3969|205/609|69/202||,T|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|2/2|c.26G>A|p.Ser9Asn|70/592|26/267|9/88||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.205G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.205G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|3/3|c.205G>A||||||,T|sequence_feature|LOW|LIF|ENSG00000128342|helix|ENST00000249075|protein_coding|2/3|c.205G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1C>T|||||2150|,T|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1C>T|||||1940|,T|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808C>T|||||3517|
22	30640836	.	T	C	.	.	ANN=C|missense_variant|MODERATE|LIF|ENSG00000128342|transcript|ENST00000249075|protein_coding|2/3|c.106A>G|p.Ile36Val|262/3969|106/609|36/202||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|3/3|c.106A>G||||||,C|sequence_feature|LOW|LIF|ENSG00000128342|disulfide_bond|ENST00000249075|protein_coding|2/3|c.106A>G||||||,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000608354|antisense||n.-1T>C|||||1358|,C|upstream_gene_variant|MODIFIER|RP1-102K2.8|ENSG00000268812|transcript|ENST00000593843|antisense||n.-1T>C|||||1148|,C|downstream_gene_variant|MODIFIER|RP1-102K2.6|ENSG00000232530|transcript|ENST00000447565|antisense||n.*808T>C|||||4309|,C|intron_variant|MODIFIER|LIF|ENSG00000128342|transcript|ENST00000403987|protein_coding|1/1|c.20-786A>G||||||
22	30659934	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.697C>T|p.Arg233Cys|738/1854|697/759|233/252||,A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.634C>T|p.Arg212Cys|923/1000|634/696|212/231||,A|sequence_feature|LOW|OSM|ENSG00000099985|maturation_peptide|ENST00000215781|protein_coding|3/3|c.697C>T||||||,A|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103C>T|||||130|
22	30659994	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.637G>A|p.Gly213Arg|678/1854|637/759|213/252||,T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.574G>A|p.Gly192Arg|863/1000|574/696|192/231||,T|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103G>A|||||70|
22	30659996	.	C	A	.	.	ANN=A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.635G>T|p.Trp212Leu|676/1854|635/759|212/252||,A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.572G>T|p.Trp191Leu|861/1000|572/696|191/231||,A|downstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding||c.*103G>T|||||68|
22	30660123	.	G	C	.	.	ANN=C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.508C>G|p.Arg170Gly|549/1854|508/759|170/252||,C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.445C>G|p.Arg149Gly|734/1000|445/696|149/231||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.508C>G||||||,C|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*302C>G|||||302|
22	30660177	.	A	C	.	.	ANN=C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.454T>G|p.Cys152Gly|495/1854|454/759|152/252||,C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.391T>G|p.Cys131Gly|680/1000|391/696|131/231||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.454T>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|3/3|c.454T>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.454T>G||||||,C|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*248T>G|||||248|
22	30660284	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|3/3|c.347G>A|p.Arg116His|388/1854|347/759|116/252||,T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|3/3|c.284G>A|p.Arg95His|573/1000|284/696|95/231||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.347G>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.347G>A||||||,T|3_prime_UTR_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|2/2|c.*141G>A|||||141|
22	30661028	.	T	C	.	.	ANN=C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|2/3|c.140A>G|p.Asp47Gly|181/1854|140/759|47/252||,C|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|2/3|c.77A>G|p.Asp26Gly|366/1000|77/696|26/231||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.140A>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.140A>G||||||,C|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|2/3|c.140A>G||||||,C|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/1|c.35-575A>G||||||
22	30661059	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|2/3|c.109G>A|p.Val37Met|150/1854|109/759|37/252||,T|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding|2/3|c.46G>A|p.Val16Met|335/1000|46/696|16/231||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|3/3|c.109G>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|disulfide_bond|ENST00000215781|protein_coding|2/3|c.109G>A||||||,T|sequence_feature|LOW|OSM|ENSG00000099985|helix|ENST00000215781|protein_coding|2/3|c.109G>A||||||,T|intron_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/1|c.35-606G>A||||||
22	30662763	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000215781|protein_coding|1/3|c.26C>T|p.Thr9Met|67/1854|26/759|9/252||,A|missense_variant|MODERATE|OSM|ENSG00000099985|transcript|ENST00000403463|protein_coding|1/2|c.26C>T|p.Thr9Met|66/464|26/63|9/20||,A|sequence_feature|LOW|OSM|ENSG00000099985|signal_peptide|ENST00000215781|protein_coding|1/3|c.26C>T||||||,A|sequence_feature|LOW|OSM|ENSG00000099985|signal_peptide|ENST00000215781|protein_coding|2/3|c.26C>T||||||,A|upstream_gene_variant|MODIFIER|OSM|ENSG00000099985|transcript|ENST00000403389|protein_coding||c.-290C>T|||||956|
22	30682865	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|5/9|c.578C>T|p.Thr193Met|708/1623|578/990|193/329||,A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/13|c.1145C>T|p.Thr382Met|1145/1818|1145/1443|382/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/8|c.578C>T|p.Thr193Met|688/1460|578/876|193/291||,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*448C>T|||||1881|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*432C>T|||||1868|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*364C>T|||||655|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*364C>T|||||655|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*378C>T|||||669|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*426C>T|||||946|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*481C>T|||||2433|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704C>T|||||209|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188C>T|||||291|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340C>T|||||322|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372C>T|||||563|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+346C>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+279C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*448C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*432C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*364C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*364C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*378C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.541C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*426C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*481C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|5/5|n.615C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.762C>T||||||
22	30682874	.	T	A	.	.	ANN=A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|5/9|c.569A>T|p.Asp190Val|699/1623|569/990|190/329||,A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|10/13|c.1136A>T|p.Asp379Val|1136/1818|1136/1443|379/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|5/8|c.569A>T|p.Asp190Val|679/1460|569/876|190/291||,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*439A>T|||||1872|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*423A>T|||||1859|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*355A>T|||||646|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*355A>T|||||646|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*369A>T|||||660|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*417A>T|||||937|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*472A>T|||||2424|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.*704A>T|||||200|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.*188A>T|||||282|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.*340A>T|||||313|,A|downstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.*372A>T|||||554|,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript|2/2|n.84+337A>T||||||,A|intron_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|3/4|n.*305+270A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|10/14|n.*439A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|10/13|n.*423A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|9/12|n.*355A>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|9/13|n.*355A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|4/7|n.*369A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|4/4|n.532A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|6/7|n.*417A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|5/6|n.*472A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|5/5|n.606A>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|3/3|n.753A>T||||||
22	30683474	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding|3/9|c.260C>T|p.Ala87Val|390/1623|260/990|87/329||,A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|8/13|c.827C>T|p.Ala276Val|827/1818|827/1443|276/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding|3/8|c.260C>T|p.Ala87Val|370/1460|260/876|87/291||,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|8/14|n.*127C>T|||||1272|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|8/13|n.*114C>T|||||1259|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|7/12|n.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|7/13|n.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|2/5|n.*60C>T|||||60|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|2/7|n.*60C>T|||||60|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|4/7|n.*108C>T|||||337|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|3/6|n.*163C>T|||||1824|,A|3_prime_UTR_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|3/4|n.*159C>T|||||1824|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000459785|processed_transcript||n.-1C>T|||||95|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding||c.*1568C>T|||||4508|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding||c.*1692C>T|||||4505|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.*3131C>T|||||4506|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron||n.*5562C>T|||||4506|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding||c.*1466C>T|||||4523|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay||n.*1060C>T|||||4525|,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|8/14|n.*127C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|8/13|n.*114C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|7/12|n.*46C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|7/13|n.*46C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay|2/5|n.*60C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay|2/7|n.*60C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron|2/4|n.223C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay|4/7|n.*108C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay|3/6|n.*163C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron|3/5|n.294C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron|2/3|n.238C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron|3/3|n.304C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay|3/4|n.*159C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript|2/3|n.138C>T||||||,A|non_coding_exon_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript|2/2|n.326C>T||||||
22	30688414	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1498C>T|p.Arg500Cys|1518/1950|1498/1548|500/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1477C>T|p.Arg493Cys|1642/2077|1477/1527|493/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1213C>T|p.Arg405Cys|1416/1833|1213/1263|405/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*546C>T|||||853|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||2798|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||2818|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||2856|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||2803|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||2894|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||2920|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||2885|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||2894|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||2879|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3246|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||2929|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4475|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||2879|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||974|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1496|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1664|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+348C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+348C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1226C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1226C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1226C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2697C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5128C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*546C>T||||||
22	30688486	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1426G>A|p.Val476Met|1446/1950|1426/1548|476/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1405G>A|p.Val469Met|1570/2077|1405/1527|469/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1141G>A|p.Val381Met|1344/1833|1141/1263|381/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*474G>A|||||781|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||2870|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||2890|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||2928|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||2875|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||2966|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||2992|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||2957|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||2966|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||2951|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3318|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||3001|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4547|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||2951|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||902|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1424|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1592|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+276G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+276G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1154G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1154G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1154G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2625G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5056G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*474G>A||||||
22	30688488	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1424A>G|p.His475Arg|1444/1950|1424/1548|475/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1403A>G|p.His468Arg|1568/2077|1403/1527|468/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1139A>G|p.His380Arg|1342/1833|1139/1263|380/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*472A>G|||||779|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131A>G|||||2872|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111A>G|||||2892|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73A>G|||||2930|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126A>G|||||2877|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1A>G|||||2968|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9A>G|||||2994|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44A>G|||||2959|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1A>G|||||2968|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1A>G|||||2953|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1A>G|||||3320|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3A>G|||||3003|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1A>G|||||4549|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1A>G|||||2953|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651A>G|||||900|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354A>G|||||1422|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578A>G|||||1590|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+274A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+274A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1152A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1152A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1152A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2623A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5054A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*472A>G||||||
22	30688540	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1372C>G|p.Pro458Ala|1392/1950|1372/1548|458/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1351C>G|p.Pro451Ala|1516/2077|1351/1527|451/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1087C>G|p.Pro363Ala|1290/1833|1087/1263|363/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*420C>G|||||727|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>G|||||2924|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>G|||||2944|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>G|||||2982|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>G|||||2929|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>G|||||3020|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>G|||||3046|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>G|||||3011|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>G|||||3020|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>G|||||3005|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>G|||||3372|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>G|||||3055|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>G|||||4601|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>G|||||3005|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>G|||||848|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>G|||||1370|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>G|||||1538|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+222C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+222C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1100C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1100C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1100C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2571C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.5002C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*420C>G||||||
22	30688548	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1364C>T|p.Pro455Leu|1384/1950|1364/1548|455/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1343C>T|p.Pro448Leu|1508/2077|1343/1527|448/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1079C>T|p.Pro360Leu|1282/1833|1079/1263|360/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*412C>T|||||719|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||2932|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||2952|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||2990|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||2937|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||3028|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||3054|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||3019|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||3028|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||3013|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3380|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||3063|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4609|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||3013|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||840|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1362|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1530|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+214C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+214C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1092C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1092C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1092C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2563C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4994C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*412C>T||||||
22	30688602	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1310A>G|p.Gln437Arg|1330/1950|1310/1548|437/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1289A>G|p.Gln430Arg|1454/2077|1289/1527|430/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1025A>G|p.Gln342Arg|1228/1833|1025/1263|342/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*358A>G|||||665|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131A>G|||||2986|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111A>G|||||3006|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73A>G|||||3044|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126A>G|||||2991|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1A>G|||||3082|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9A>G|||||3108|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44A>G|||||3073|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1A>G|||||3082|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1A>G|||||3067|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1A>G|||||3434|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3A>G|||||3117|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1A>G|||||4663|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1A>G|||||3067|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651A>G|||||786|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354A>G|||||1308|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578A>G|||||1476|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+160A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+160A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1038A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1038A>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1038A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2509A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4940A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*358A>G||||||
22	30688611	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1301C>G|p.Pro434Arg|1321/1950|1301/1548|434/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1280C>G|p.Pro427Arg|1445/2077|1280/1527|427/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.1016C>G|p.Pro339Arg|1219/1833|1016/1263|339/420||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*349C>G|||||656|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>G|||||2995|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>G|||||3015|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>G|||||3053|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>G|||||3000|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>G|||||3091|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>G|||||3117|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>G|||||3082|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>G|||||3091|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>G|||||3076|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>G|||||3443|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>G|||||3126|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>G|||||4672|,C|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>G|||||3076|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>G|||||777|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>G|||||1299|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>G|||||1467|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+151C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+151C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+1029C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+1029C>G||||||,C|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+1029C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2500C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4931C>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*349C>G||||||
22	30688659	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1253G>A|p.Arg418His|1273/1950|1253/1548|418/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1232G>A|p.Arg411His|1397/2077|1232/1527|411/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.968G>A|p.Arg323His|1171/1833|968/1263|323/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*301G>A|||||608|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||3043|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||3063|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||3101|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||3048|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||3139|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||3165|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||3130|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||3139|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||3124|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3491|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||3174|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4720|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||3124|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||729|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1251|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+103G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+103G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+981G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+981G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+981G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2452G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4883G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*301G>A||||||
22	30688689	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1223G>A|p.Arg408Gln|1243/1950|1223/1548|408/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1202G>A|p.Arg401Gln|1367/2077|1202/1527|401/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.938G>A|p.Arg313Gln|1141/1833|938/1263|313/420||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*271G>A|||||578|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||3073|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||3093|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||3131|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||3078|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||3169|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||3195|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||3160|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||3169|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||3154|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||3521|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||3204|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1G>A|||||4750|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||3154|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651G>A|||||699|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354G>A|||||1221|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||1389|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/12|c.751+73G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/13|n.712+73G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+951G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+951G>A||||||,T|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+951G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2422G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4853G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*271G>A||||||
22	30688827	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|7/13|c.686C>T|p.Pro229Leu|686/1818|686/1443|229/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|9/9|c.1085C>T|p.Pro362Leu|1105/1950|1085/1548|362/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|9/9|c.1064C>T|p.Pro355Leu|1229/2077|1064/1527|355/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|9/9|c.800C>T|p.Pro267Leu|1003/1833|800/1263|267/420||,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*133C>T|||||440|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||3211|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||3231|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||3269|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||3216|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||3307|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||3333|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||3298|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||3307|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||3292|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||3659|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||3342|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000464854|processed_transcript||n.-1C>T|||||4888|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||3292|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.*651C>T|||||561|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||1083|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||1251|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/12|n.666+813C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/11|n.672+813C>T||||||,A|intron_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/12|n.672+813C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|6/14|n.647C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|6/6|n.2284C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|5/5|n.4715C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|10/10|n.*133C>T||||||
22	30689749	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|6/13|c.563C>T|p.Ala188Val|563/1818|563/1443|188/480||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|8/9|c.962C>T|p.Ala321Val|982/1950|962/1548|321/515||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|8/9|c.941C>T|p.Ala314Val|1106/2077|941/1527|314/508||,A|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|8/9|c.677C>T|p.Ala226Val|880/1833|677/1263|226/420||,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131C>T|||||4133|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111C>T|||||4153|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73C>T|||||4191|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126C>T|||||4138|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1C>T|||||4229|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9C>T|||||4255|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44C>T|||||4220|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1C>T|||||4229|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1C>T|||||4214|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1C>T|||||4581|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3C>T|||||4264|,A|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1C>T|||||4214|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay||n.*354C>T|||||161|,A|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578C>T|||||329|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|5/14|n.524C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|6/13|n.557C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|6/12|n.563C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|6/13|n.563C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|5/6|n.2161C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4592C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|8/10|n.740C>T||||||,A|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|3/3|n.290C>T||||||
22	30690020	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|5/13|c.407G>A|p.Arg136His|407/1818|407/1443|136/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|7/9|c.806G>A|p.Arg269His|826/1950|806/1548|269/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|7/9|c.785G>A|p.Arg262His|950/2077|785/1527|262/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|7/9|c.521G>A|p.Arg174His|724/1833|521/1263|174/420||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.806G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.785G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.785G>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*397G>A|||||5442|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000407689|protein_coding||c.-131G>A|||||4404|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000404953|protein_coding||c.-111G>A|||||4424|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440839|nonsense_mediated_decay||n.-73G>A|||||4462|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000421236|nonsense_mediated_decay||n.-126G>A|||||4409|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000497605|retained_intron||n.-1G>A|||||4500|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000415484|nonsense_mediated_decay||n.-9G>A|||||4526|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000425691|nonsense_mediated_decay||n.-44G>A|||||4491|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000463795|retained_intron||n.-1G>A|||||4500|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000471480|retained_intron||n.-1G>A|||||4485|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000492159|retained_intron||n.-1G>A|||||4852|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000440704|nonsense_mediated_decay||n.-3G>A|||||4535|,T|upstream_gene_variant|MODIFIER|GATSL3|ENSG00000239282|transcript|ENST00000498572|processed_transcript||n.-1G>A|||||4485|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding||c.*578G>A|||||58|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|4/14|n.368G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|5/13|n.401G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|5/12|n.407G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|5/13|n.407G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|4/6|n.2005G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|4/5|n.4321G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|7/10|n.584G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|2/3|n.134G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|6/6|n.*397G>A||||||
22	30690805	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|4/13|c.307G>A|p.Gly103Ser|307/1818|307/1443|103/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|6/9|c.706G>A|p.Gly236Ser|726/1950|706/1548|236/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|6/9|c.685G>A|p.Gly229Ser|850/2077|685/1527|229/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|6/9|c.421G>A|p.Gly141Ser|624/1833|421/1263|141/420||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|6/7|c.421G>A|p.Gly141Ser|536/578|421/463|141/153||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.706G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.685G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.685G>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/6|n.*297G>A|||||4657|,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|3/14|n.268G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|4/13|n.301G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|4/12|n.307G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|4/13|n.307G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|3/6|n.1905G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|3/5|n.4221G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|6/10|n.484G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron|1/3|n.34G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|5/6|n.*297G>A||||||
22	30690945	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|3/13|c.246G>A|p.Met82Ile|246/1818|246/1443|82/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|5/9|c.645G>A|p.Met215Ile|665/1950|645/1548|215/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|5/9|c.624G>A|p.Met208Ile|789/2077|624/1527|208/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|5/9|c.360G>A|p.Met120Ile|563/1833|360/1263|120/420||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|5/7|c.360G>A|p.Met120Ile|475/578|360/463|120/153||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.645G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.624G>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.624G>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|4/6|n.*236G>A|||||4517|,T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1G>A|||||107|,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay|2/14|n.207G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|3/13|n.240G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|3/12|n.246G>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|3/13|n.246G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron|2/6|n.1844G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|2/5|n.4160G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|5/10|n.423G>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|4/6|n.*236G>A||||||
22	30695449	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|1/13|c.23A>G|p.Asn8Ser|23/1818|23/1443|8/480||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|3/9|c.422A>G|p.Asn141Ser|442/1950|422/1548|141/515||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|3/9|c.401A>G|p.Asn134Ser|566/2077|401/1527|134/508||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|3/9|c.137A>G|p.Asn46Ser|340/1833|137/1263|46/420||,C|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|3/7|c.137A>G|p.Asn46Ser|252/578|137/463|46/153||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.422A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.401A>G||||||,C|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.401A>G||||||,C|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*13A>G|||||13|,C|upstream_gene_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay||n.-1A>G|||||3617|,C|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.-1A>G|||||1980|,C|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1A>G|||||4611|,C|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript||n.*520A>G|||||1011|,C|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|1/13|n.17A>G||||||,C|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|1/12|n.23A>G||||||,C|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|1/13|n.23A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|1/5|n.337A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|3/10|n.200A>G||||||,C|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*13A>G||||||
22	30695459	.	A	T	.	.	ANN=T|missense_variant|MODERATE|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434291|protein_coding|1/13|c.13T>A|p.Leu5Ile|13/1818|13/1443|5/480||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|3/9|c.412T>A|p.Leu138Ile|432/1950|412/1548|138/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|3/9|c.391T>A|p.Leu131Ile|556/2077|391/1527|131/508||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403362|protein_coding|3/9|c.127T>A|p.Leu43Ile|330/1833|127/1263|43/420||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000393906|protein_coding|3/7|c.127T>A|p.Leu43Ile|242/578|127/463|43/153||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|3/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|4/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|5/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|6/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|7/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000403477|protein_coding|8/9|c.412T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|3/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|4/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|5/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|6/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|7/9|c.391T>A||||||,T|sequence_feature|LOW|TBC1D10A|ENSG00000099992|domain:Rab-GAP_TBC|ENST00000215790|protein_coding|8/9|c.391T>A||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*3T>A|||||3|,T|upstream_gene_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000330168|nonsense_mediated_decay||n.-1T>A|||||3627|,T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000467596|retained_intron||n.-1T>A|||||1990|,T|upstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000466666|retained_intron||n.-1T>A|||||4621|,T|downstream_gene_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript||n.*520T>A|||||1001|,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000434987|nonsense_mediated_decay|1/13|n.7T>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000418047|nonsense_mediated_decay|1/12|n.13T>A||||||,T|non_coding_exon_variant|MODIFIER|RP1-130H16.18|ENSG00000248751|transcript|ENST00000447976|nonsense_mediated_decay|1/13|n.13T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000462073|retained_intron|1/5|n.327T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000433426|nonsense_mediated_decay|3/10|n.190T>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|2/6|n.*3T>A||||||
22	30722834	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000403477|protein_coding|1/9|c.37C>A|p.Pro13Thr|57/1950|37/1548|13/515||,T|missense_variant|MODERATE|TBC1D10A|ENSG00000099992|transcript|ENST00000215790|protein_coding|1/9|c.37C>A|p.Pro13Thr|202/2077|37/1527|13/508||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000437122|nonsense_mediated_decay|1/6|n.37C>A||||||,T|non_coding_exon_variant|MODIFIER|TBC1D10A|ENSG00000099992|transcript|ENST00000490449|processed_transcript|1/3|n.57C>A||||||
22	30733763	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|12/16|c.1867G>A|p.Ala623Thr|2022/5143|1867/2382|623/793||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|12/16|c.1672G>A|p.Ala558Thr|1804/4923|1672/2187|558/728||,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay||n.*209G>A|||||27|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.*777G>A|||||43|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>A|||||1066|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>A|||||1187|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||4546|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||4773|
22	30733826	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|12/16|c.1804A>G|p.Met602Val|1959/5143|1804/2382|602/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|12/16|c.1609A>G|p.Met537Val|1741/4923|1609/2187|537/728||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|5/5|c.757A>G|p.Met253Val|757/777|757/777|253/258||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|4/4|n.*303A>G|||||1194|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593A>G|||||1003|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875A>G|||||1124|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319A>G|||||4483|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555A>G|||||4710|,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|4/4|n.*303A>G||||||
22	30734788	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|11/16|c.1733G>A|p.Arg578Gln|1888/5143|1733/2382|578/793||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|11/16|c.1538G>A|p.Arg513Gln|1670/4923|1538/2187|513/728||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|4/5|c.686G>A|p.Arg229Gln|686/777|686/777|229/258||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|3/4|n.*232G>A|||||232|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.*593G>A|||||41|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.*875G>A|||||162|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||3521|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||3748|,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|3/4|n.*232G>A||||||
22	30736350	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|9/16|c.1210G>A|p.Ala404Thr|1365/5143|1210/2382|404/793||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|9/16|c.1015G>A|p.Ala339Thr|1147/4923|1015/2187|339/728||,T|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|3/5|c.298G>A|p.Ala100Thr|298/777|298/777|100/258||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319G>A|||||1959|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555G>A|||||2186|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459G>A|||||4549|,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-1182G>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron|1/3|n.111G>A||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron|1/2|n.419G>A||||||
22	30737748	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|7/16|c.1004A>G|p.Lys335Arg|1159/5143|1004/2382|335/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|7/16|c.809A>G|p.Lys270Arg|941/4923|809/2187|270/728||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding|1/5|c.92A>G|p.Lys31Arg|92/777|92/777|31/258||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1A>G|||||1288|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1A>G|||||980|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay||n.*319A>G|||||561|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.*555A>G|||||788|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron||n.*459A>G|||||3151|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583A>G|||||4462|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-2580A>G||||||
22	30741150	.	G	A,C,T	.	.	ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.423C>G|p.Ile141Met|578/5143|423/2382|141/793||,A|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.423C>T|p.Ile141Ile|578/5143|423/2382|141/793||,T|synonymous_variant|LOW|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|4/16|c.423C>A|p.Ile141Ile|578/5143|423/2382|141/793||,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>T|||||3311|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>G|||||3311|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1C>A|||||3311|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>T|||||4690|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>G|||||4690|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000485618|retained_intron||n.-1C>A|||||4690|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>T|||||4382|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>G|||||4382|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000498259|retained_intron||n.-1C>A|||||4382|,A|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>T|||||7|,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>G|||||7|,T|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1C>A|||||7|,A|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>T|||||1060|,C|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>G|||||1060|,T|downstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron||n.*583C>A|||||1060|,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-94C>T||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-94C>G||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/15|c.322-94C>A||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5982C>T||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5982C>G||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-5982C>A||||||,A|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2282C>T||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2282C>G||||||,T|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-2282C>A||||||,A|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.208C>T||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.208C>G||||||,T|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|2/2|n.208C>A||||||
22	30742434	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|3/16|c.260A>G|p.Asn87Ser|415/5143|260/2382|87/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/16|c.260A>G|p.Asn87Ser|392/4923|260/2187|87/728||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.260A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.260A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.260A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.260A>G||||||,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1A>G|||||4595|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1A>G|||||1291|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7266A>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3566A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|1/2|n.45A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|3/3|n.359A>G||||||
22	30742468	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|3/16|c.226A>G|p.Ile76Val|381/5143|226/2382|76/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|3/16|c.226A>G|p.Ile76Val|358/4923|226/2187|76/728||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|3/16|c.226A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000215793|protein_coding|2/16|c.226A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|2/16|c.226A>G||||||,C|sequence_feature|LOW|SF3A1|ENSG00000099995|repeat:SURP_motif_1|ENST00000439242|protein_coding|3/16|c.226A>G||||||,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000444440|protein_coding||c.-1A>G|||||4629|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471037|retained_intron||n.-1A>G|||||1325|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.64-7300A>G||||||,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/3|n.186-3600A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000471342|retained_intron|1/2|n.11A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|3/3|n.325A>G||||||
22	30749058	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000215793|protein_coding|2/16|c.67A>G|p.Thr23Ala|222/5143|67/2382|23/793||,C|missense_variant|MODERATE|SF3A1|ENSG00000099995|transcript|ENST00000439242|protein_coding|2/16|c.67A>G|p.Thr23Ala|199/4923|67/2187|23/728||,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.-661T>C|||||3569|,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.-664T>C|||||3566|,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.-710T>C|||||3566|,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.-144T>C|||||3932|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.-292T>C|||||3938|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.-1T>C|||||4045|,C|intron_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000411423|nonsense_mediated_decay|1/3|n.63+3661A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000447376|nonsense_mediated_decay|2/4|n.67A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000463818|retained_intron|2/3|n.166A>G||||||,C|non_coding_exon_variant|MODIFIER|SF3A1|ENSG00000099995|transcript|ENST00000496189|retained_intron|2/2|n.169A>G||||||
22	30762095	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.106C>T|p.Arg36Cys|766/3001|106/2259|36/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.106C>T|p.Arg36Cys|769/1759|106/252|36/83||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.106C>T|p.Arg36Cys|815/3052|106/2259|36/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.106C>T|p.Arg36Cys|249/732|106/589|36/195||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.106C>T|p.Arg36Cys|397/894|106/603|36/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3326C>T||||||
22	30762096	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.107G>A|p.Arg36His|767/3001|107/2259|36/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.107G>A|p.Arg36His|770/1759|107/252|36/83||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.107G>A|p.Arg36His|816/3052|107/2259|36/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.107G>A|p.Arg36His|250/732|107/589|36/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.107G>A|p.Arg36His|398/894|107/603|36/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3325G>A||||||
22	30762140	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|3/12|c.151G>A|p.Asp51Asn|811/3001|151/2259|51/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding|3/3|c.151G>A|p.Asp51Asn|814/1759|151/252|51/83||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|3/12|c.151G>A|p.Asp51Asn|860/3052|151/2259|51/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|2/4|c.151G>A|p.Asp51Asn|294/732|151/589|51/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|3/5|c.151G>A|p.Asp51Asn|442/894|151/603|51/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|2/9|n.174-3281G>A||||||
22	30765503	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|4/12|c.331G>A|p.Gly111Arg|991/3001|331/2259|111/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|4/12|c.331G>A|p.Gly111Arg|1040/3052|331/2259|111/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|3/4|c.331G>A|p.Gly111Arg|474/732|331/589|111/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|4/5|c.331G>A|p.Gly111Arg|622/894|331/603|111/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||4178|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||2418|,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|3/10|n.256G>A||||||
22	30766366	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.472G>A|p.Glu158Lys|1132/3001|472/2259|158/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.472G>A|p.Glu158Lys|1181/3052|472/2259|158/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.472G>A|p.Glu158Lys|615/732|472/589|158/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.472G>A|p.Glu158Lys|763/894|472/603|158/200||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||3315|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||4564|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||3281|,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.397G>A||||||
22	30766439	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.545A>G|p.Gln182Arg|1205/3001|545/2259|182/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.545A>G|p.Gln182Arg|1254/3052|545/2259|182/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.545A>G|p.Gln182Arg|688/732|545/589|182/195||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.545A>G|p.Gln182Arg|836/894|545/603|182/200||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||3242|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||4491|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||3354|,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.470A>G||||||
22	30766466	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.572C>T|p.Pro191Leu|1232/3001|572/2259|191/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.572C>T|p.Pro191Leu|1281/3052|572/2259|191/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding|4/4|c.572C>T|p.Pro191Leu|715/732|572/589|191/195||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding|5/5|c.572C>T|p.Pro191Leu|863/894|572/603|191/200||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1C>T|||||3215|,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||4464|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915C>T|||||3381|,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.497C>T||||||
22	30766535	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.641T>C|p.Ile214Thr|1301/3001|641/2259|214/752||,C|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.641T>C|p.Ile214Thr|1350/3052|641/2259|214/752||,C|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1T>C|||||3146|,C|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443A>G|||||4395|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915T>C|||||3450|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732T>C|||||52|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894T>C|||||38|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.566T>C||||||
22	30766850	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.956A>G|p.Lys319Arg|1616/3001|956/2259|319/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.956A>G|p.Lys319Arg|1665/3052|956/2259|319/752||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.956A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.956A>G||||||,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||2831|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||4080|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||3765|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732A>G|||||367|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894A>G|||||353|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.881A>G||||||
22	30766868	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|5/12|c.974G>A|p.Arg325Gln|1634/3001|974/2259|325/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|5/12|c.974G>A|p.Arg325Gln|1683/3052|974/2259|325/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.974G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.974G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||2813|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||4062|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915G>A|||||3783|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||385|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||371|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.899G>A||||||
22	30767708	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|6/12|c.1115A>G|p.Gln372Arg|1775/3001|1115/2259|372/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|6/12|c.1115A>G|p.Gln372Arg|1824/3052|1115/2259|372/752||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1115A>G||||||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1115A>G||||||,G|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1A>G|||||1973|,G|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443T>C|||||3222|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000399824|protein_coding||c.*915A>G|||||4623|,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732A>G|||||1225|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894A>G|||||1211|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|4/10|n.1739A>G||||||
22	30768265	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|7/12|c.1325G>A|p.Arg442His|1985/3001|1325/2259|442/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|7/12|c.1325G>A|p.Arg442His|2034/3052|1325/2259|442/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1325G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1325G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||1416|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||2665|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||1782|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||1768|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|5/10|n.1949G>A||||||
22	30769605	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|8/12|c.1355G>A|p.Arg452Gln|2015/3001|1355/2259|452/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|8/12|c.1355G>A|p.Arg452Gln|2064/3052|1355/2259|452/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1355G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1355G>A||||||,A|upstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.-1G>A|||||76|,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||1325|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3122|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3108|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||4230|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|6/10|n.1979G>A||||||
22	30769685	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|8/12|c.1435C>T|p.Arg479Trp|2095/3001|1435/2259|479/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|8/12|c.1435C>T|p.Arg479Trp|2144/3052|1435/2259|479/752||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1435C>T||||||,T|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1435C>T||||||,T|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443G>A|||||1245|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732C>T|||||3202|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894C>T|||||3188|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||4150|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|6/10|n.2059C>T||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.5C>T||||||
22	30769997	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/12|c.1589G>A|p.Arg530Gln|2249/3001|1589/2259|530/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/12|c.1589G>A|p.Arg530Gln|2298/3052|1589/2259|530/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1589G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1589G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||933|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||4809|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3514|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3500|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||3838|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||4975|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/10|n.2213G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.317G>A||||||
22	30770021	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/12|c.1613G>A|p.Arg538Gln|2273/3001|1613/2259|538/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/12|c.1613G>A|p.Arg538Gln|2322/3052|1613/2259|538/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1613G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1613G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||909|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||4785|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3538|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3524|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||3814|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||4951|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/10|n.2237G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.341G>A||||||
22	30770027	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|9/12|c.1619G>A|p.Arg540Gln|2279/3001|1619/2259|540/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|9/12|c.1619G>A|p.Arg540Gln|2328/3052|1619/2259|540/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|9/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|6/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|8/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|5/12|c.1619G>A||||||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|7/12|c.1619G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.*1443C>T|||||903|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||4779|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000445005|protein_coding||c.*732G>A|||||3544|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000430839|protein_coding||c.*894G>A|||||3530|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||3808|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||4945|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|7/10|n.2243G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/3|n.347G>A||||||
22	30771554	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|10/12|c.1759T>G|p.Ser587Ala|2419/3001|1759/2259|587/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|10/12|c.1759T>G|p.Ser587Ala|2468/3052|1759/2259|587/752||,G|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|10/12|c.1759T>G||||||,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209A>C|||||3252|,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105A>C|||||2281|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030A>C|||||3418|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896A>C|||||4025|,G|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.401-694T>G||||||,G|non_coding_exon_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|2/2|n.819A>C||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|8/10|n.2376T>G||||||
22	30771573	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|10/12|c.1778G>A|p.Arg593Gln|2438/3001|1778/2259|593/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|10/12|c.1778G>A|p.Arg593Gln|2487/3052|1778/2259|593/752||,A|sequence_feature|LOW|CCDC157|ENSG00000187860|coiled-coil_region|ENST00000338306|protein_coding|10/12|c.1778G>A||||||,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||3233|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||2262|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||3399|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896C>T|||||4006|,A|intron_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|1/2|n.401-675G>A||||||,A|non_coding_exon_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|2/2|n.800C>T||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|8/10|n.2395G>A||||||
22	30772305	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|11/12|c.1915C>A|p.Pro639Thr|2575/3001|1915/2259|639/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|11/12|c.1915C>A|p.Pro639Thr|2624/3052|1915/2259|639/752||,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>T|||||2501|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>T|||||1530|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>T|||||2667|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>T|||||3274|,A|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-296G>T||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|9/10|n.2532C>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|2/3|n.458C>A||||||
22	30772457	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.1982C>G|p.Thr661Arg|2642/3001|1982/2259|661/752||,G|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.1982C>G|p.Thr661Arg|2691/3052|1982/2259|661/752||,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>C|||||2349|,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>C|||||1378|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>C|||||2515|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>C|||||3122|,G|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-448G>C||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2599C>G||||||,G|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.525C>G||||||
22	30772687	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2212C>T|p.Arg738Trp|2872/3001|2212/2259|738/752||,T|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2212C>T|p.Arg738Trp|2921/3052|2212/2259|738/752||,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209G>A|||||2119|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105G>A|||||1148|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030G>A|||||2285|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896G>A|||||2892|,T|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-678G>A||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2829C>T||||||,T|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.755C>T||||||
22	30772688	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding|12/12|c.2213G>A|p.Arg738Gln|2873/3001|2213/2259|738/752||,A|missense_variant|MODERATE|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding|12/12|c.2213G>A|p.Arg738Gln|2922/3052|2213/2259|738/752||,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding||c.*1209C>T|||||2118|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.*105C>T|||||1147|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding||c.*1030C>T|||||2284|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.*896C>T|||||2891|,A|intron_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense|1/1|n.364-679C>T||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron|10/10|n.2830G>A||||||,A|non_coding_exon_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron|3/3|n.756G>A||||||
22	30775675	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.947C>T|p.Ser316Leu|948/1651|947/1029|316/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1111+25C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1111+25C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1111+25C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1111+25C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1813|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2859|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2857|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1028|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2859|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4684|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/8|c.1111+25C>T||||||,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/1|c.64+25C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/4|n.863+25C>T||||||
22	30775694	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.928C>T|p.His310Tyr|929/1651|928/1029|310/342||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/8|c.1111+6C>T||||||,A|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/1|c.64+6C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|splice_region_variant&intron_variant|LOW|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/4|n.863+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1111+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1111+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1111+6C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1111+6C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1832|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2878|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2876|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1047|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2878|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4665|
22	30775729	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|8/9|c.1082C>T|p.Thr361Ile|1157/1992|1082/1134|361/377||,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding|1/2|c.35C>T|p.Thr12Ile|35/361|35/105|12/34||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|8/8|c.893C>T|p.Thr298Ile|894/1651|893/1029|298/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|7/9|c.1082C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|zinc_finger_region:RING-type|ENST00000382363|protein_coding|8/9|c.1082C>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>T|||||1867|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>A|||||2913|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>A|||||2911|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>A|||||1082|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>A|||||2913|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>T|||||4630|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|4/5|n.834C>T||||||
22	30776095	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.964G>A|p.Ala322Thr|1039/1992|964/1134|322/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.775G>A|p.Ala259Thr|776/1651|775/1029|259/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.964G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.964G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.964G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.964G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>A|||||2233|,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||332|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>T|||||3279|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>T|||||3277|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>T|||||1448|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>T|||||3279|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||4264|,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.716G>A||||||
22	30776106	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.953C>G|p.Pro318Arg|1028/1992|953/1134|318/377||,C|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.764C>G|p.Pro255Arg|765/1651|764/1029|255/342||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.953C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.953C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.953C>G||||||,C|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.953C>G||||||,C|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1C>G|||||2244|,C|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>G|||||343|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919G>C|||||3290|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968G>C|||||3288|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789G>C|||||1459|,C|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884G>C|||||3290|,C|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555C>G|||||4253|,C|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.705C>G||||||
22	30776122	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.937G>T|p.Ala313Ser|1012/1992|937/1134|313/377||,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.748G>T|p.Ala250Ser|749/1651|748/1029|250/342||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.937G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.937G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.937G>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.937G>T||||||,A|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>T|||||2260|,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>T|||||359|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>A|||||3306|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>A|||||3304|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>A|||||1475|,A|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>A|||||3306|,A|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>T|||||4237|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.689G>T||||||
22	30776173	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|7/9|c.886G>A|p.Val296Met|961/1992|886/1134|296/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|7/8|c.697G>A|p.Val233Met|698/1651|697/1029|233/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|9/9|c.886G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|6/9|c.886G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|7/9|c.886G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Cytoplasmic|ENST00000382363|protein_coding|8/9|c.886G>A||||||,T|upstream_gene_variant|MODIFIER|RP1-130H16.16|ENSG00000241528|transcript|ENST00000332468|antisense||n.-1G>A|||||2311|,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||410|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000338306|protein_coding||c.*2919C>T|||||3357|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000405659|protein_coding||c.*2968C>T|||||3355|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000475975|retained_intron||n.*4789C>T|||||1526|,T|downstream_gene_variant|MODIFIER|CCDC157|ENSG00000187860|transcript|ENST00000482413|retained_intron||n.*884C>T|||||3357|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||4186|,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|3/5|n.638G>A||||||
22	30780351	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/9|c.721G>A|p.Gly241Arg|796/1992|721/1134|241/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/8|c.532G>A|p.Gly178Arg|533/1651|532/1029|178/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.721G>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.721G>A||||||,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1G>A|||||4588|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron||n.*555G>A|||||8|,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535G>A|||||1545|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.473G>A||||||
22	30780416	.	G	T	.	.	ANN=T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|5/9|c.656C>A|p.Thr219Asn|731/1992|656/1134|219/377||,T|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|5/8|c.467C>A|p.Thr156Asn|468/1651|467/1029|156/342||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.656C>A||||||,T|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.656C>A||||||,T|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000421022|protein_coding||c.-1C>A|||||4653|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding||c.*535C>A|||||1480|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron|1/5|n.408C>A||||||,T|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|4/4|n.498C>A||||||
22	30782672	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000382363|protein_coding|2/9|c.362C>T|p.Ala121Val|437/1992|362/1134|121/377||,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000215798|protein_coding|2/8|c.173C>T|p.Ala58Val|174/1651|173/1029|58/342||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|3/5|c.77C>T|p.Ala26Val|313/535|77/299|26/98||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|2/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|5/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|4/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|3/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|6/9|c.362C>T||||||,A|sequence_feature|LOW|RNF215|ENSG00000099999|topological_domain:Extracellular|ENST00000382363|protein_coding|1/9|c.362C>T||||||,A|upstream_gene_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000463319|retained_intron||n.-1C>T|||||1849|,A|non_coding_exon_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000473077|retained_intron|1/4|n.204C>T||||||
22	30793137	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|1/12|c.32G>A|p.Arg11Lys|292/4381|32/1212|11/403||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|1/11|c.32G>A|p.Arg11Lys|112/1733|32/1179|11/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|1/10|c.32G>A|p.Arg11Lys|104/1229|32/963|11/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|2/12|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|1/12|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|2/11|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|1/11|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|2/10|c.32G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|1/10|c.32G>A||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/8|c.-55G>A|||||9226|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/10|c.-55G>A|||||9226|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.-312G>A|||||390|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.-111G>A|||||1429|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1G>A|||||2536|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1G>A|||||2536|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1G>A|||||2536|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-8869C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|1/11|n.154G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|1/6|n.131G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|1/6|n.32G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/6|n.32G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|1/7|n.98G>A||||||
22	30795636	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|2/12|c.59G>A|p.Arg20Gln|319/4381|59/1212|20/403||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|2/11|c.59G>A|p.Arg20Gln|139/1733|59/1179|20/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|2/10|c.59G>A|p.Arg20Gln|131/1229|59/963|20/320||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|2/5|c.137G>A|p.Arg46Gln|247/485|137/375|46/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|2/12|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|1/12|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|2/11|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|1/11|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|2/10|c.59G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000402592|protein_coding|1/10|c.59G>A||||||,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000484486|processed_transcript||n.-1G>A|||||37|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000485482|processed_transcript||n.-1G>A|||||37|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron||n.-1G>A|||||37|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-125-11368C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|1/7|c.-33+2477G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|1/9|c.-33+2477G>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|1/5|n.54+2477G>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|1/3|c.22+1777G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|2/11|n.181G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|2/6|n.158G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|2/6|n.59G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|3/7|n.247G>A||||||
22	30803114	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/12|c.205G>A|p.Asp69Asn|465/4381|205/1212|69/403||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/8|c.43G>A|p.Asp15Asn|305/871|43/609|15/202||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/11|c.205G>A|p.Asp69Asn|285/1733|205/1179|69/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/4|c.97G>A|p.Asp33Asn|408/565|97/254|33/83||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/5|c.283G>A|p.Asp95Asn|393/485|283/375|95/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.205G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.205G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1G>A|||||2137|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1G>A|||||1897|,A|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1G>A|||||1990|,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2G>A|||||2130|,A|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3G>A|||||2138|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14536C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-290G>A||||||,A|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+740G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/11|n.327G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/6|n.304G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/6|n.205G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/6|n.129G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/7|n.393G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/9|n.110G>A||||||
22	30803123	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|4/12|c.214A>G|p.Ile72Val|474/4381|214/1212|72/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|3/8|c.52A>G|p.Ile18Val|314/871|52/609|18/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|4/11|c.214A>G|p.Ile72Val|294/1733|214/1179|72/392||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|3/4|c.106A>G|p.Ile36Val|417/565|106/254|36/83||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding|4/5|c.292A>G|p.Ile98Val|402/485|292/375|98/124||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|4/12|c.214A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|4/11|c.214A>G||||||,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>G|||||2128|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>G|||||1888|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>G|||||1981|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>G|||||2121|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>G|||||2129|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14527T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|2/9|c.13-281A>G||||||,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+749A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/11|n.336A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|4/6|n.313A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/6|n.214A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|3/6|n.138A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|5/7|n.402A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|3/9|n.119A>G||||||
22	30803508	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.339C>G|p.Phe113Leu|599/4381|339/1212|113/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.177C>G|p.Phe59Leu|439/871|177/609|59/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.117C>G|p.Phe39Leu|328/2631|117/990|39/329||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.339C>G|p.Phe113Leu|419/1733|339/1179|113/392||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding|4/4|c.231C>G|p.Phe77Leu|542/565|231/254|77/83||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|4/10|n.357-5C>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|4/5|n.235-5C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.339C>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.339C>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*101C>G|||||101|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1C>G|||||1743|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1C>G|||||1503|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1C>G|||||1596|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2C>G|||||1736|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3C>G|||||1744|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>G|||||42|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14142G>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1134C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.438C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*101C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.527C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.244C>G||||||
22	30803555	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.386A>G|p.Glu129Gly|646/4381|386/1212|129/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.224A>G|p.Glu75Gly|486/871|224/609|75/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.164A>G|p.Glu55Gly|375/2631|164/990|55/329||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.386A>G|p.Glu129Gly|466/1733|386/1179|129/392||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.386A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.386A>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*22A>G|||||22|,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*148A>G|||||148|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>G|||||1696|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>G|||||1456|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>G|||||1549|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>G|||||1689|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>G|||||1697|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565A>G|||||24|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485A>G|||||89|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14095T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1181A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|5/11|n.399A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.485A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*22A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*148A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.574A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.291A>G||||||
22	30803579	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|5/12|c.410A>G|p.His137Arg|670/4381|410/1212|137/403||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|4/8|c.248A>G|p.His83Arg|510/871|248/609|83/202||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|3/10|c.188A>G|p.His63Arg|399/2631|188/990|63/329||,G|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|5/11|c.410A>G|p.His137Arg|490/1733|410/1179|137/392||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|6/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000312932|protein_coding|5/12|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|6/11|c.410A>G||||||,G|sequence_feature|LOW|SEC14L2|ENSG00000100003|helix|ENST00000405717|protein_coding|5/11|c.410A>G||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*46A>G|||||46|,G|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*172A>G|||||172|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding||c.-1A>G|||||1672|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.-1A>G|||||1432|,G|upstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.-1A>G|||||1525|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay||n.-2A>G|||||1665|,G|upstream_gene_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding||c.-3A>G|||||1673|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565A>G|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485A>G|||||113|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+14071T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|3/9|c.174+1205A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|5/11|n.423A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript|5/6|n.509A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay|5/6|n.*46A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|4/6|n.*172A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript|6/7|n.598A>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|4/9|n.315A>G||||||
22	30805457	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|7/12|c.562C>T|p.Arg188Cys|822/4381|562/1212|188/403||,T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|2/9|c.64C>T|p.Arg22Cys|64/1470|64/1017|22/338||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|6/8|c.400C>T|p.Arg134Cys|662/871|400/609|134/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|5/10|c.340C>T|p.Arg114Cys|551/2631|340/990|114/329||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|7/11|c.562C>T|p.Arg188Cys|642/1733|562/1179|188/392||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|5/10|c.313C>T|p.Arg105Cys|385/1229|313/963|105/320||,T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|2/4|c.61C>T|p.Arg21Cys|63/694|61/432|21/143||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|7/12|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000405717|protein_coding|7/11|c.562C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|5/10|c.313C>T||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|6/6|n.*404C>T|||||2050|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000416523|processed_transcript||n.*552C>T|||||332|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000437022|nonsense_mediated_decay||n.*354C>T|||||219|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000459728|processed_transcript||n.*707C>T|||||186|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000429917|protein_coding||c.*565C>T|||||1926|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000415072|protein_coding||c.*485C>T|||||1991|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+12193G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|7/11|n.575C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000452649|nonsense_mediated_decay|6/6|n.*404C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|6/9|n.467C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|2/5|n.304C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|2/6|n.211C>T||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|2/5|n.70C>T||||||
22	30811825	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|9/12|c.742C>T|p.Pro248Ser|1002/4381|742/1212|248/403||,T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|4/9|c.244C>T|p.Pro82Ser|244/1470|244/1017|82/338||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding|8/8|c.580C>T|p.Pro194Ser|842/871|580/609|194/202||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|7/10|c.520C>T|p.Pro174Ser|731/2631|520/990|174/329||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|9/11|c.742C>T|p.Pro248Ser|822/1733|742/1179|248/392||,T|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|7/10|c.493C>T|p.Pro165Ser|565/1229|493/963|165/320||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|6/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|4/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|5/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|8/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|7/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000312932|protein_coding|9/12|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|6/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|4/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|5/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|8/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|7/11|c.742C>T||||||,T|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:CRAL-TRIO|ENST00000405717|protein_coding|9/11|c.742C>T||||||,T|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1C>T|||||4676|,T|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258G>A|||||2387|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5825G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|7/8|n.570-112C>T||||||,T|intron_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|3/5|n.314-112C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|3/4|n.173-398C>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5157C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|9/11|n.755C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron|4/5|n.484C>T||||||
22	30812022	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|10/12|c.857G>A|p.Arg286His|1117/4381|857/1212|286/403||,A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|5/9|c.359G>A|p.Arg120His|359/1470|359/1017|120/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|8/10|c.635G>A|p.Arg212His|846/2631|635/990|212/329||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|10/11|c.857G>A|p.Arg286His|937/1733|857/1179|286/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|8/10|c.608G>A|p.Arg203His|680/1229|608/963|203/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|10/12|c.857G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|12/12|c.857G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|11/12|c.857G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|8/10|c.608G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|10/10|c.608G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|9/10|c.608G>A||||||,A|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1G>A|||||4479|,A|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258C>T|||||2190|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871G>A|||||168|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.*573G>A|||||26|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5628C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|3/4|n.173-201G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5354G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|9/11|n.952G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|8/9|n.655G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|4/6|n.399G>A||||||
22	30812387	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding|11/12|c.1076G>A|p.Gly359Asp|1336/4381|1076/1212|359/403||,A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|6/9|c.578G>A|p.Gly193Asp|578/1470|578/1017|193/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding|9/10|c.854G>A|p.Gly285Asp|1065/2631|854/990|285/329||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000405717|protein_coding|11/11|c.1076G>A|p.Gly359Asp|1156/1733|1076/1179|359/392||,A|missense_variant|MODERATE|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding|9/10|c.827G>A|p.Gly276Asp|899/1229|827/963|276/320||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|10/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|12/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000312932|protein_coding|11/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|12/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000312932|protein_coding|11/12|c.1076G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|8/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|10/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|domain:GOLD|ENST00000402592|protein_coding|9/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|10/10|c.827G>A||||||,A|sequence_feature|LOW|SEC14L2|ENSG00000100003|beta_strand|ENST00000402592|protein_coding|9/10|c.827G>A||||||,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.*115G>A|||||115|,A|upstream_gene_variant|MODIFIER|RP4-539M6.20|ENSG00000273350|transcript|ENST00000608677|sense_intronic||n.-1G>A|||||4114|,A|upstream_gene_variant|MODIFIER|RNU6-564P|ENSG00000222915|transcript|ENST00000410983|snRNA||n.-1G>A|||||4647|,A|downstream_gene_variant|MODIFIER|KIAA1658|ENSG00000268538|transcript|ENST00000598426|protein_coding||c.*258C>T|||||1825|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|RP4-539M6.21|ENSG00000272689|transcript|ENST00000608952|sense_intronic||n.*331C>T|||||4808|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000428195|protein_coding||c.*871G>A|||||533|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000483116|retained_intron||n.*573G>A|||||391|,A|intron_variant|MODIFIER|RNF215|ENSG00000099999|transcript|ENST00000431544|protein_coding|1/4|c.-126+5263C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.163+5719G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron|10/11|n.1171G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000464335|retained_intron|9/9|n.874G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron|5/6|n.618G>A||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/5|n.*115G>A||||||
22	30822813	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|7/9|c.692A>G|p.Lys231Arg|692/1470|692/1017|231/338||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|2/4|c.176A>G|p.Lys59Arg|526/1375|176/501|59/166||,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/3|c.176A>G|p.Lys59Arg|280/891|176/408|59/135||,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/4|c.176A>G|p.Lys59Arg|239/912|176/432|59/143||,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472A>G|||||1508|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201A>G|||||2987|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739A>G|||||2985|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035A>G|||||4223|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184A>G|||||2987|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1636A>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1636A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron|2/2|n.281A>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|2/4|n.176A>G||||||
22	30823218	.	G	T	.	.	ANN=T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.772G>T|p.Val258Leu|772/1470|772/1017|258/338||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.256G>T|p.Val86Leu|606/1375|256/501|86/166||,T|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.256G>T||||||,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*80G>T|||||80|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>T|||||1913|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>T|||||3392|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>T|||||3390|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>T|||||4628|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>T|||||3392|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>T|||||39|,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1231G>T||||||,T|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1231G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+386G>T||||||,T|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|2/3|c.196-9G>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*80G>T||||||
22	30823230	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.784C>G|p.Leu262Val|784/1470|784/1017|262/338||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.268C>G|p.Leu90Val|618/1375|268/501|90/166||,G|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.199C>G|p.Leu67Val|262/912|199/432|67/143||,G|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.268C>G||||||,G|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*92C>G|||||92|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>G|||||1925|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>G|||||3404|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>G|||||3402|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>G|||||4640|,G|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>G|||||3404|,G|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>G|||||51|,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1219C>G||||||,G|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1219C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+398C>G||||||,G|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*92C>G||||||
22	30823323	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.877G>A|p.Val293Ile|877/1470|877/1017|293/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.361G>A|p.Val121Ile|711/1375|361/501|121/166||,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.292G>A|p.Val98Ile|355/912|292/432|98/143||,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*185G>A|||||185|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||2018|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||3497|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||3495|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035G>A|||||4733|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||3497|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||144|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1126G>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1126G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+491G>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*185G>A||||||
22	30823365	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|8/9|c.919C>A|p.Pro307Thr|919/1470|919/1017|307/338||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|3/4|c.403C>A|p.Pro135Thr|753/1375|403/501|135/166||,A|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|3/4|c.334C>A|p.Pro112Thr|397/912|334/432|112/143||,A|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|4/4|c.403C>A||||||,A|sequence_feature|LOW|MTFP1|ENSG00000242114|transmembrane_region:Transmembrane_region|ENST00000266263|protein_coding|3/4|c.403C>A||||||,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*227C>A|||||227|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>A|||||2060|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>A|||||3539|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>A|||||3537|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000402592|protein_coding||c.*1035C>A|||||4775|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>A|||||3539|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>A|||||186|,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|4/4|n.*121-1084C>A||||||,A|intron_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|3/3|c.164-1084C>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|2/2|c.195+533C>A||||||,A|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|3/4|n.*227C>A||||||
22	30824488	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.203C>T|p.Ser68Phe|205/694|203/432|68/143||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.984C>T|p.Leu328Leu|984/1470|984/1017|328/338||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.468C>T|p.Leu156Leu|818/1375|468/501|156/166||,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.235C>T|p.Leu79Leu|339/891|235/408|79/135||,T|synonymous_variant|LOW|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.399C>T|p.Leu133Leu|462/912|399/432|133/143||,T|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*160C>T|||||12216|,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*292C>T|||||1350|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472C>T|||||3183|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201C>T|||||4662|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739C>T|||||4660|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184C>T|||||4662|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647C>T|||||1309|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*160C>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*292C>T||||||
22	30824621	.	A	T	.	.	ANN=T|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.336A>T|p.Arg112Ser|338/694|336/432|112/143||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.368A>T|p.Asp123Val|472/891|368/408|123/135||,T|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*100A>T|||||100|WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*100A>T|||||100|,T|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*293A>T|||||12349|,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*425A>T|||||1483|,T|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*100A>T|||||100|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472A>T|||||3316|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201A>T|||||4795|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739A>T|||||4793|,T|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184A>T|||||4795|,T|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647A>T|||||1442|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*293A>T||||||,T|non_coding_exon_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay|4/4|n.*425A>T||||||
22	30824694	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.409G>A|p.Glu137Lys|411/694|409/432|137/143||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*173G>A|||||173|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*173G>A|||||173|,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*366G>A|||||12422|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.*33G>A|||||33|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*173G>A|||||173|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||3389|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||4868|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||4866|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||4868|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||1515|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay||n.*325G>A|||||64|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*366G>A||||||
22	30824706	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439023|protein_coding|4/4|c.421G>A|p.Gly141Ser|423/694|421/432|141/143||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000439838|protein_coding|9/9|c.*185G>A|||||185|WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000266263|protein_coding|4/4|c.*185G>A|||||185|,A|3_prime_UTR_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*378G>A|||||12434|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000355143|protein_coding|3/3|c.*45G>A|||||45|,A|3_prime_UTR_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000407550|protein_coding|4/4|c.*185G>A|||||185|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000312932|protein_coding||c.*1472G>A|||||3401|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000403484|protein_coding||c.*1201G>A|||||4880|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000467218|retained_intron||n.*2739G>A|||||4878|,A|downstream_gene_variant|MODIFIER|SEC14L2|ENSG00000100003|transcript|ENST00000478762|retained_intron||n.*2184G>A|||||4880|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000489658|retained_intron||n.*647G>A|||||1527|,A|downstream_gene_variant|MODIFIER|MTFP1|ENSG00000242114|transcript|ENST00000412752|nonsense_mediated_decay||n.*325G>A|||||76|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.19|ENSG00000249590|transcript|ENST00000454552|nonsense_mediated_decay|5/5|n.*378G>A||||||
22	30856115	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|12/12|c.1096G>A|p.Asp366Asn|1187/2086|1096/1203|366/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|12/12|c.865G>A|p.Asp289Asn|1215/1837|865/972|289/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|13/13|c.919G>A|p.Asp307Asn|1172/1794|919/1026|307/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|14/14|c.865G>A|p.Asp289Asn|1342/1964|865/972|289/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|13/13|c.919G>A|p.Asp307Asn|1242/1864|919/1026|307/341||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1096G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1096G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1096G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.865G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.865G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.865G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.919G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.919G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.919G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1058G>A|||||11048|,T|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>A|||||1542|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+1182G>A||||||,T|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+1182G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1058G>A||||||
22	30856121	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|12/12|c.1090C>T|p.Arg364Cys|1181/2086|1090/1203|364/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|12/12|c.859C>T|p.Arg287Cys|1209/1837|859/972|287/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|13/13|c.913C>T|p.Arg305Cys|1166/1794|913/1026|305/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|14/14|c.859C>T|p.Arg287Cys|1336/1964|859/972|287/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|13/13|c.913C>T|p.Arg305Cys|1236/1864|913/1026|305/341||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1090C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1090C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1090C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.859C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.859C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.859C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.913C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.913C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.913C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1052C>T|||||11042|,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693C>T|||||1536|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/10|c.904+1176C>T||||||,A|intron_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/12|c.904+1176C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|13/13|n.*1052C>T||||||
22	30857329	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.1049A>T|p.Asp350Val|1140/2086|1049/1203|350/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.872A>T|p.Asp291Val|998/2316|872/1062|291/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.872A>T|p.Asp291Val|1156/2474|872/1062|291/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.818A>T|p.Asp273Val|1168/1837|818/972|273/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.872A>T|p.Asp291Val|1125/1794|872/1026|291/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.818A>T|p.Asp273Val|1295/1964|818/972|273/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.872A>T|p.Asp291Val|1195/1864|872/1026|291/341||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1049A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1049A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1049A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.818A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.818A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.818A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.872A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.872A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.872A>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*1011A>T|||||9834|,A|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693A>T|||||328|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*1011A>T||||||
22	30857353	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.1025A>G|p.Tyr342Cys|1116/2086|1025/1203|342/400||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.848A>G|p.Tyr283Cys|974/2316|848/1062|283/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.848A>G|p.Tyr283Cys|1132/2474|848/1062|283/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.794A>G|p.Tyr265Cys|1144/1837|794/972|265/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.848A>G|p.Tyr283Cys|1101/1794|848/1026|283/341||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.794A>G|p.Tyr265Cys|1271/1964|794/972|265/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.848A>G|p.Tyr283Cys|1171/1864|848/1026|283/341||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1025A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1025A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1025A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.794A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.794A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.794A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.848A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.848A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.848A>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*987A>G|||||9810|,C|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693A>G|||||304|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*987A>G||||||
22	30857373	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.1005T>G|p.Asp335Glu|1096/2086|1005/1203|335/400||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.828T>G|p.Asp276Glu|954/2316|828/1062|276/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.828T>G|p.Asp276Glu|1112/2474|828/1062|276/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.774T>G|p.Asp258Glu|1124/1837|774/972|258/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.828T>G|p.Asp276Glu|1081/1794|828/1026|276/341||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.774T>G|p.Asp258Glu|1251/1964|774/972|258/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.828T>G|p.Asp276Glu|1151/1864|828/1026|276/341||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.1005T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.1005T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.1005T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.774T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.774T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.774T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.828T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.828T>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.828T>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*967T>G|||||9790|,C|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693T>G|||||284|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*967T>G||||||
22	30857438	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|11/12|c.940A>G|p.Ile314Val|1031/2086|940/1203|314/400||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|10/11|c.763A>G|p.Ile255Val|889/2316|763/1062|255/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|12/13|c.763A>G|p.Ile255Val|1047/2474|763/1062|255/353||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|11/12|c.709A>G|p.Ile237Val|1059/1837|709/972|237/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|12/13|c.763A>G|p.Ile255Val|1016/1794|763/1026|255/341||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|13/14|c.709A>G|p.Ile237Val|1186/1964|709/972|237/323||,C|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|12/13|c.763A>G|p.Ile255Val|1086/1864|763/1026|255/341||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.940A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.940A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.940A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.709A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.709A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.709A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.763A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.763A>G||||||,C|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.763A>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*902A>G|||||9725|,C|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693A>G|||||219|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|12/13|n.*902A>G||||||
22	30857549	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/12|c.904G>A|p.Val302Ile|995/2086|904/1203|302/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/11|c.727G>A|p.Val243Ile|853/2316|727/1062|243/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/13|c.727G>A|p.Val243Ile|1011/2474|727/1062|243/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/12|c.673G>A|p.Val225Ile|1023/1837|673/972|225/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/13|c.727G>A|p.Val243Ile|980/1794|727/1026|243/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/14|c.673G>A|p.Val225Ile|1150/1964|673/972|225/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/13|c.727G>A|p.Val243Ile|1050/1864|727/1026|243/341||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|11/12|c.904G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|10/12|c.904G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000215812|protein_coding|12/12|c.904G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|11/12|c.673G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|12/12|c.673G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000540910|protein_coding|10/12|c.673G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|12/13|c.727G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|13/13|c.727G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:GOLD|ENST00000401751|protein_coding|11/13|c.727G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*866G>A|||||9614|,T|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>A|||||108|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*866G>A||||||
22	30857645	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|10/12|c.808G>C|p.Val270Leu|899/2086|808/1203|270/400||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|9/11|c.631G>C|p.Val211Leu|757/2316|631/1062|211/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|11/13|c.631G>C|p.Val211Leu|915/2474|631/1062|211/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|10/12|c.577G>C|p.Val193Leu|927/1837|577/972|193/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|11/13|c.631G>C|p.Val211Leu|884/1794|631/1026|211/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|12/14|c.577G>C|p.Val193Leu|1054/1964|577/972|193/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|11/13|c.631G>C|p.Val211Leu|954/1864|631/1026|211/341||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*770G>C|||||9518|,G|downstream_gene_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding||c.*693G>C|||||12|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|11/13|n.*770G>C||||||
22	30860830	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|8/12|c.641G>A|p.Arg214His|732/2086|641/1203|214/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|7/11|c.464G>A|p.Arg155His|590/2316|464/1062|155/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|9/13|c.464G>A|p.Arg155His|748/2474|464/1062|155/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|8/12|c.410G>A|p.Arg137His|760/1837|410/972|137/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|9/13|c.464G>A|p.Arg155His|717/1794|464/1026|155/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|10/14|c.410G>A|p.Arg137His|887/1964|410/972|137/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|9/13|c.464G>A|p.Arg155His|787/1864|464/1026|155/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|6/8|c.536G>A|p.Arg179His|538/693|536/691|179/229||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.641G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.464G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.464G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*603G>A|||||6333|,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*603G>A||||||
22	30860831	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|8/12|c.640C>T|p.Arg214Cys|731/2086|640/1203|214/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|7/11|c.463C>T|p.Arg155Cys|589/2316|463/1062|155/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|9/13|c.463C>T|p.Arg155Cys|747/2474|463/1062|155/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|8/12|c.409C>T|p.Arg137Cys|759/1837|409/972|137/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|9/13|c.463C>T|p.Arg155Cys|716/1794|463/1026|155/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|10/14|c.409C>T|p.Arg137Cys|886/1964|409/972|137/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|9/13|c.463C>T|p.Arg155Cys|786/1864|463/1026|155/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|6/8|c.535C>T|p.Arg179Cys|537/693|535/691|179/229||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.463C>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.463C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*602C>T|||||6332|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|9/13|n.*602C>T||||||
22	30863040	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|6/12|c.448G>A|p.Val150Met|539/2086|448/1203|150/400||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|5/11|c.271G>A|p.Val91Met|397/2316|271/1062|91/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|7/13|c.271G>A|p.Val91Met|555/2474|271/1062|91/353||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|6/12|c.217G>A|p.Val73Met|567/1837|217/972|73/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|7/13|c.271G>A|p.Val91Met|524/1794|271/1026|91/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|8/14|c.217G>A|p.Val73Met|694/1964|217/972|73/323||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|7/13|c.271G>A|p.Val91Met|594/1864|271/1026|91/341||,T|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|4/8|c.343G>A|p.Val115Met|345/693|343/691|115/229||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.448G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.271G>A||||||,T|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.271G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|7/13|n.*410G>A|||||4123|,T|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|7/13|n.*410G>A||||||
22	30864545	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/12|c.373A>T|p.Met125Leu|464/2086|373/1203|125/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/11|c.196A>T|p.Met66Leu|322/2316|196/1062|66/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/13|c.196A>T|p.Met66Leu|480/2474|196/1062|66/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/12|c.142A>T|p.Met48Leu|492/1837|142/972|48/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/13|c.196A>T|p.Met66Leu|449/1794|196/1026|66/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/14|c.142A>T|p.Met48Leu|619/1964|142/972|48/323||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/13|c.196A>T|p.Met66Leu|519/1864|196/1026|66/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/8|c.268A>T|p.Met90Leu|270/693|268/691|90/229||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.373A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.196A>T||||||,A|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.196A>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*335A>T|||||2618|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*335A>T||||||
22	30864610	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/12|c.308T>C|p.Ile103Thr|399/2086|308/1203|103/400||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/11|c.131T>C|p.Ile44Thr|257/2316|131/1062|44/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/13|c.131T>C|p.Ile44Thr|415/2474|131/1062|44/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/12|c.77T>C|p.Ile26Thr|427/1837|77/972|26/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/13|c.131T>C|p.Ile44Thr|384/1794|131/1026|44/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/14|c.77T>C|p.Ile26Thr|554/1964|77/972|26/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/13|c.131T>C|p.Ile44Thr|454/1864|131/1026|44/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/8|c.203T>C|p.Ile68Thr|205/693|203/691|68/229||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.308T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.131T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.131T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*270T>C|||||2553|,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*270T>C||||||
22	30864655	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|5/12|c.263T>C|p.Leu88Pro|354/2086|263/1203|88/400||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|4/11|c.86T>C|p.Leu29Pro|212/2316|86/1062|29/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|6/13|c.86T>C|p.Leu29Pro|370/2474|86/1062|29/353||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|5/12|c.32T>C|p.Leu11Pro|382/1837|32/972|11/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|6/13|c.86T>C|p.Leu29Pro|339/1794|86/1026|29/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|7/14|c.32T>C|p.Leu11Pro|509/1964|32/972|11/323||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|6/13|c.86T>C|p.Leu29Pro|409/1864|86/1026|29/341||,G|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|3/8|c.158T>C|p.Leu53Pro|160/693|158/691|53/229||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|6/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|4/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|7/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|9/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|8/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000215812|protein_coding|5/12|c.263T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|5/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|8/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|6/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|7/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|10/13|c.86T>C||||||,G|sequence_feature|LOW|SEC14L3|ENSG00000100012|domain:CRAL-TRIO|ENST00000401751|protein_coding|9/13|c.86T>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*225T>C|||||2508|,G|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|6/13|n.*225T>C||||||
22	30866053	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000215812|protein_coding|4/12|c.187C>T|p.Arg63Trp|278/2086|187/1203|63/400||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000415957|protein_coding|3/11|c.10C>T|p.Arg4Trp|136/2316|10/1062|4/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000403066|protein_coding|5/13|c.10C>T|p.Arg4Trp|294/2474|10/1062|4/353||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000401751|protein_coding|5/13|c.10C>T|p.Arg4Trp|263/1794|10/1026|4/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000539629|protein_coding|5/13|c.10C>T|p.Arg4Trp|333/1864|10/1026|4/341||,A|missense_variant|MODERATE|SEC14L3|ENSG00000100012|transcript|ENST00000435069|protein_coding|2/8|c.82C>T|p.Arg28Trp|84/693|82/691|28/229||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|3/12|c.-215C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|5/14|c.-215C>T||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000540910|protein_coding|3/12|c.-215C>T|||||1275|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000402286|protein_coding|5/14|c.-215C>T|||||1275|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/13|n.*149C>T|||||1110|,A|non_coding_exon_variant|MODIFIER|SEC14L3|ENSG00000100012|transcript|ENST00000434642|nonsense_mediated_decay|5/13|n.*149C>T||||||
22	30886156	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|12/12|c.1159G>A|p.Asp387Asn|1243/2499|1159/1221|387/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|13/13|c.1114G>A|p.Asp372Asn|1308/2564|1114/1176|372/391||,T|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.1041G>A|p.Pro347Pro|1319/2575|1041/1083|347/360||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1102G>A|||||13537|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*926G>A|||||5415|,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||1633|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1709C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-291G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1102G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*926G>A||||||
22	30886214	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.983C>T|p.Thr328Ile|1261/2575|983/1083|328/360||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|12/12|c.1101C>T|p.Asn367Asn|1185/2499|1101/1221|367/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|13/13|c.1056C>T|p.Asn352Asn|1250/2564|1056/1176|352/391||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1101C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1101C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1101C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1101C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1044C>T|||||13479|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*868C>T|||||5357|,A|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1G>A|||||1575|,A|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1651G>A||||||,A|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-349C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1044C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*868C>T||||||
22	30886224	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|12/12|c.1091G>A|p.Arg364His|1175/2499|1091/1221|364/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.973G>A|p.Ala325Thr|1251/2575|973/1083|325/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|13/13|c.1046G>A|p.Arg349His|1240/2564|1046/1176|349/391||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1091G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1091G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1091G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1091G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1034G>A|||||13469|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*858G>A|||||5347|,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||1565|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1641C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-359G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*1034G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|13/13|n.*858G>A||||||
22	30886271	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|12/12|c.926G>A|p.Arg309Gln|1204/2575|926/1083|309/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.1082-38G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.1082-38G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.1082-38G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.1082-38G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*987G>A|||||13422|,T|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>T|||||1518|,T|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-1594C>T||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|11/11|c.1082-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/12|n.*849-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|12/12|c.1037-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/11|c.1082-406G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|12/12|n.*987G>A||||||
22	30887668	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|11/12|c.973G>C|p.Gly325Arg|1057/2499|973/1221|325/406||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|11/12|c.811G>C|p.Gly271Arg|1089/2575|811/1083|271/360||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|12/13|c.928G>C|p.Gly310Arg|1122/2564|928/1176|310/391||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|11/12|c.973G>C|p.Gly325Arg|1012/1603|973/1083|325/360||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|11/12|c.973G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|9/12|c.973G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|10/12|c.973G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:GOLD|ENST00000255858|protein_coding|12/12|c.973G>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|11/12|n.*872G>C|||||12025|,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/13|n.*740G>C|||||3903|,G|upstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.-1C>G|||||121|,G|intron_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|1/2|n.487-197C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|11/12|n.*872G>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|12/13|n.*740G>C||||||
22	30888485	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.640C>T|p.Arg214Cys|724/2499|640/1221|214/406||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.478C>T|p.Arg160Cys|756/2575|478/1083|160/360||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.595C>T|p.Arg199Cys|789/2564|595/1176|199/391||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.640C>T|p.Arg214Cys|679/1603|640/1083|214/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.640C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.640C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*539C>T|||||11208|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*407C>T|||||3086|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.606G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*539C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*407C>T||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.196G>A||||||
22	30888492	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.633G>C|p.Glu211Asp|717/2499|633/1221|211/406||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.471G>C|p.Glu157Asp|749/2575|471/1083|157/360||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.588G>C|p.Glu196Asp|782/2564|588/1176|196/391||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.633G>C|p.Glu211Asp|672/1603|633/1083|211/360||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.633G>C||||||,G|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.633G>C||||||,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*532G>C|||||11201|,G|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*400G>C|||||3079|,G|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.613C>G||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*532G>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*400G>C||||||,G|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.203C>G||||||
22	30888494	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.631G>A|p.Glu211Lys|715/2499|631/1221|211/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.469G>A|p.Glu157Lys|747/2575|469/1083|157/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.586G>A|p.Glu196Lys|780/2564|586/1176|196/391||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.631G>A|p.Glu211Lys|670/1603|631/1083|211/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.631G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.631G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*530G>A|||||11199|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*398G>A|||||3077|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.615C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*530G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*398G>A||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.205C>T||||||
22	30888505	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.620C>T|p.Ser207Leu|704/2499|620/1221|207/406||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.458C>T|p.Ser153Leu|736/2575|458/1083|153/360||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.575C>T|p.Ser192Leu|769/2564|575/1176|192/391||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.620C>T|p.Ser207Leu|659/1603|620/1083|207/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.620C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.620C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*519C>T|||||11188|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*387C>T|||||3066|,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.626G>A||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*519C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*387C>T||||||,A|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.216G>A||||||
22	30888527	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|8/12|c.598G>A|p.Val200Met|682/2499|598/1221|200/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|8/12|c.436G>A|p.Val146Met|714/2575|436/1083|146/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|9/13|c.553G>A|p.Val185Met|747/2564|553/1176|185/391||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|8/12|c.598G>A|p.Val200Met|637/1603|598/1083|200/360||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.598G>A||||||,T|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.598G>A||||||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*497G>A|||||11166|,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*365G>A|||||3044|,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense|3/3|n.648C>T||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|8/12|n.*497G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|9/13|n.*365G>A||||||,T|non_coding_exon_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense|2/2|n.238C>T||||||
22	30891294	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.370C>G|p.Arg124Gly|454/2499|370/1221|124/406||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.208C>G|p.Arg70Gly|486/2575|208/1083|70/360||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.325C>G|p.Arg109Gly|519/2564|325/1176|109/391||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.370C>G|p.Arg124Gly|409/1603|370/1083|124/360||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.370C>G||||||,C|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.370C>G||||||,C|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*269C>G|||||8399|,C|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*137C>G|||||277|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>C|||||2539|,C|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>C|||||2503|,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*269C>G||||||,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*137C>G||||||
22	30891300	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|5/12|c.364C>T|p.Arg122Trp|448/2499|364/1221|122/406||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|5/12|c.202C>T|p.Arg68Trp|480/2575|202/1083|68/360||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|6/13|c.319C>T|p.Arg107Trp|513/2564|319/1176|107/391||,A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|5/12|c.364C>T|p.Arg122Trp|403/1603|364/1083|122/360||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|5/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|9/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|8/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|4/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|6/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000255858|protein_coding|7/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|5/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|9/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|8/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|4/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|6/12|c.364C>T||||||,A|sequence_feature|LOW|SEC14L4|ENSG00000133488|domain:CRAL-TRIO|ENST00000381982|protein_coding|7/12|c.364C>T||||||,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*263C>T|||||8393|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*131C>T|||||271|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876G>A|||||2545|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502G>A|||||2509|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|5/12|n.*263C>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|6/13|n.*131C>T||||||
22	30891616	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|4/12|c.188G>A|p.Arg63Gln|272/2499|188/1221|63/406||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|4/12|c.26G>A|p.Arg9Gln|304/2575|26/1083|9/360||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|5/13|c.143G>A|p.Arg48Gln|337/2564|143/1176|48/391||,T|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|4/12|c.188G>A|p.Arg63Gln|227/1603|188/1083|63/360||,T|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/12|n.*87G>A|||||8077|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>T|||||2861|,T|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>T|||||2825|,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|4/12|n.*87G>A||||||,T|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|5/13|n.237G>A||||||
22	30891942	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|3/13|c.53G>T|p.Cys18Phe|247/2564|53/1176|18/391||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|3/12|c.147G>T|p.Leu49Leu|231/2499|147/1221|49/406||,A|synonymous_variant|LOW|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|3/12|c.147G>T|p.Leu49Leu|186/1603|147/1083|49/360||,A|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|3/12|c.-16G>T|||||16|,A|3_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|3/12|n.*46G>T|||||7751|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000610156|antisense||n.*876C>A|||||3187|,A|downstream_gene_variant|MODIFIER|RP4-539M6.14|ENSG00000181123|transcript|ENST00000442126|antisense||n.*502C>A|||||3151|,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|3/12|n.*46G>T||||||,A|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|3/13|n.147G>T||||||
22	30899709	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|2/12|c.85A>C|p.Ile29Leu|169/2499|85/1221|29/406||,G|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|2/12|c.85A>C|p.Ile29Leu|124/1603|85/1083|29/360||,G|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|2/12|c.-78A>C|||||7783|,G|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|2/13|c.-10A>C|||||10|,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|2/12|n.101A>C||||||,G|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|2/13|n.85A>C||||||
22	30901592	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000255858|protein_coding|1/12|c.7A>G|p.Ser3Gly|91/2499|7/1221|3/406||,C|missense_variant|MODERATE|SEC14L4|ENSG00000133488|transcript|ENST00000381982|protein_coding|1/12|c.7A>G|p.Ser3Gly|46/1603|7/1083|3/360||,C|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000392772|protein_coding|1/12|c.-172A>G|||||9666|,C|5_prime_UTR_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000540456|protein_coding|1/13|c.-88A>G|||||1893|,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000320982|nonsense_mediated_decay|1/12|n.7A>G||||||,C|non_coding_exon_variant|MODIFIER|SEC14L4|ENSG00000133488|transcript|ENST00000321205|nonsense_mediated_decay|1/13|n.7A>G||||||
22	30951199	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1153/1728|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1058/1635|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1331/1908|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1135/1712|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.1013A>G|p.Asn338Ser|1216/1791|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.1013A>G|p.Asn338Ser|1254/1819|1013/1272|338/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.1013A>G|p.Asn338Ser|1166/1425|1013/1272|338/423||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.1013A>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.1013A>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding||c.*894A>G|||||176|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851A>G|||||220|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882A>G|||||286|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755A>G|||||415|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582A>G|||||502|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533A>G|||||525|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656A>G|||||566|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584A>G|||||582|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639A>G|||||678|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553A>G|||||705|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639A>G|||||712|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563A>G|||||717|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567A>G|||||726|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572A>G|||||758|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567A>G|||||786|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575A>G|||||798|WARNING_TRANSCRIPT_INCOMPLETE
22	30951208	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.1004G>A|p.Arg335His|1144/1728|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.1004G>A|p.Arg335His|1049/1635|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.1004G>A|p.Arg335His|1322/1908|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.1004G>A|p.Arg335His|1126/1712|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.1004G>A|p.Arg335His|1207/1791|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.1004G>A|p.Arg335His|1245/1819|1004/1272|335/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.1004G>A|p.Arg335His|1157/1425|1004/1272|335/423||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.1004G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.1004G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding||c.*894G>A|||||167|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851G>A|||||211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882G>A|||||277|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755G>A|||||406|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582G>A|||||493|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533G>A|||||516|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||557|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||573|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||669|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||696|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||703|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||708|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||717|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||749|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||777|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||789|WARNING_TRANSCRIPT_INCOMPLETE
22	30951226	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.986G>A|p.Arg329His|1126/1728|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.986G>A|p.Arg329His|1031/1635|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.986G>A|p.Arg329His|1304/1908|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.986G>A|p.Arg329His|1108/1712|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.986G>A|p.Arg329His|1189/1791|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.986G>A|p.Arg329His|1227/1819|986/1272|329/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.986G>A|p.Arg329His|1139/1425|986/1272|329/423||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.986G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.986G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding||c.*894G>A|||||149|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.*851G>A|||||193|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882G>A|||||259|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755G>A|||||388|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582G>A|||||475|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533G>A|||||498|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||539|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||555|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||651|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||678|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||685|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||690|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||699|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||731|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||759|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||771|WARNING_TRANSCRIPT_INCOMPLETE
22	30951482	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.730C>G|p.Arg244Gly|870/1728|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.730C>G|p.Arg244Gly|775/1635|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.730C>G|p.Arg244Gly|1048/1908|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.730C>G|p.Arg244Gly|852/1712|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.730C>G|p.Arg244Gly|933/1791|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.730C>G|p.Arg244Gly|971/1819|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.730C>G|p.Arg244Gly|883/1425|730/1272|244/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.730C>G|p.Arg244Gly|787/894|730/837|244/278||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.733C>G|p.Arg245Gly|788/851|733/796|245/264||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.730C>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.730C>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding||c.*882C>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding||c.*755C>G|||||132|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.*582C>G|||||219|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding||c.*533C>G|||||242|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656C>G|||||283|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584C>G|||||299|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639C>G|||||395|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553C>G|||||422|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639C>G|||||429|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563C>G|||||434|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567C>G|||||443|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572C>G|||||475|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567C>G|||||503|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575C>G|||||515|WARNING_TRANSCRIPT_INCOMPLETE
22	30951728	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.484G>A|p.Val162Met|624/1728|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.484G>A|p.Val162Met|529/1635|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.484G>A|p.Val162Met|802/1908|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.484G>A|p.Val162Met|606/1712|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.484G>A|p.Val162Met|687/1791|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.484G>A|p.Val162Met|725/1819|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.484G>A|p.Val162Met|637/1425|484/1272|162/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.484G>A|p.Val162Met|541/894|484/837|162/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.487G>A|p.Val163Met|542/851|487/796|163/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.484G>A|p.Val162Met|639/882|484/727|162/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.484G>A|p.Val162Met|641/755|484/598|162/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.484G>A|p.Val162Met|555/582|484/511|162/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.487G>A|p.Val163Met|529/533|487/491|163/162||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.484G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.484G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding||c.*656G>A|||||37|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.*584G>A|||||53|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||149|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||176|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||183|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||188|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||197|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||229|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||257|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||269|WARNING_TRANSCRIPT_INCOMPLETE
22	30951848	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.364G>A|p.Ala122Thr|504/1728|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.364G>A|p.Ala122Thr|409/1635|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.364G>A|p.Ala122Thr|682/1908|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.364G>A|p.Ala122Thr|486/1712|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.364G>A|p.Ala122Thr|567/1791|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.364G>A|p.Ala122Thr|605/1819|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.364G>A|p.Ala122Thr|517/1425|364/1272|122/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.364G>A|p.Ala122Thr|421/894|364/837|122/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.367G>A|p.Ala123Thr|422/851|367/796|123/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.364G>A|p.Ala122Thr|519/882|364/727|122/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.364G>A|p.Ala122Thr|521/755|364/598|122/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.364G>A|p.Ala122Thr|435/582|364/511|122/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.367G>A|p.Ala123Thr|409/533|367/491|123/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.364G>A|p.Ala122Thr|573/656|364/447|122/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.364G>A|p.Ala122Thr|517/584|364/431|122/142||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.364G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.364G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.*639G>A|||||29|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding||c.*553G>A|||||56|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding||c.*639G>A|||||63|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.*563G>A|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding||c.*567G>A|||||77|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572G>A|||||109|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567G>A|||||137|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||149|WARNING_TRANSCRIPT_INCOMPLETE
22	30951956	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.256A>G|p.Thr86Ala|396/1728|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.256A>G|p.Thr86Ala|301/1635|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.256A>G|p.Thr86Ala|574/1908|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.256A>G|p.Thr86Ala|378/1712|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.256A>G|p.Thr86Ala|459/1791|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.256A>G|p.Thr86Ala|497/1819|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.256A>G|p.Thr86Ala|409/1425|256/1272|86/423||,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.256A>G|p.Thr86Ala|313/894|256/837|86/278||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.259A>G|p.Thr87Ala|314/851|259/796|87/264||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.256A>G|p.Thr86Ala|411/882|256/727|86/241||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.256A>G|p.Thr86Ala|413/755|256/598|86/198||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.256A>G|p.Thr86Ala|327/582|256/511|86/169||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.259A>G|p.Thr87Ala|301/533|259/491|87/162||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.256A>G|p.Thr86Ala|465/656|256/447|86/148||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.256A>G|p.Thr86Ala|409/584|256/431|86/142||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.259A>G|p.Thr87Ala|560/639|259/338|87/111||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.256A>G|p.Thr86Ala|501/553|256/308|86/101||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.256A>G|p.Thr86Ala|594/639|256/301|86/99||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.256A>G|p.Thr86Ala|523/563|256/296|86/97||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.256A>G|p.Thr86Ala|536/567|256/287|86/94||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.256A>G||||||,C|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.256A>G||||||,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.*572A>G|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.*567A>G|||||29|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575A>G|||||41|WARNING_TRANSCRIPT_INCOMPLETE
22	30951985	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|3/3|c.227G>A|p.Arg76His|367/1728|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|3/3|c.227G>A|p.Arg76His|272/1635|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|3/3|c.227G>A|p.Arg76His|545/1908|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|3/3|c.227G>A|p.Arg76His|349/1712|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|4/4|c.227G>A|p.Arg76His|430/1791|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|4/4|c.227G>A|p.Arg76His|468/1819|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|3/3|c.227G>A|p.Arg76His|380/1425|227/1272|76/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|3/3|c.227G>A|p.Arg76His|284/894|227/837|76/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|3/3|c.230G>A|p.Arg77His|285/851|230/796|77/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|4/4|c.227G>A|p.Arg76His|382/882|227/727|76/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|4/4|c.227G>A|p.Arg76His|384/755|227/598|76/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|3/3|c.227G>A|p.Arg76His|298/582|227/511|76/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|3/3|c.230G>A|p.Arg77His|272/533|230/491|77/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|4/4|c.227G>A|p.Arg76His|436/656|227/447|76/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|3/3|c.227G>A|p.Arg76His|380/584|227/431|76/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|4/4|c.230G>A|p.Arg77His|531/639|230/338|77/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|5/5|c.227G>A|p.Arg76His|472/553|227/308|76/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|2/2|c.227G>A|p.Arg76His|565/639|227/301|76/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|4/4|c.227G>A|p.Arg76His|494/563|227/296|76/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|5/5|c.227G>A|p.Arg76His|507/567|227/287|76/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|4/4|c.227G>A|p.Arg76His|544/572|227/255|76/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|splice_region_variant&synonymous_variant|LOW|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|5/5|c.227G>A|p.???76???|567/567|227/227|76/74||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.227G>A||||||,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.227G>A||||||,T|downstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.*575G>A|||||12|WARNING_TRANSCRIPT_INCOMPLETE
22	30953261	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.119G>C|p.Gly40Ala|259/1728|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.119G>C|p.Gly40Ala|164/1635|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.119G>C|p.Gly40Ala|437/1908|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.119G>C|p.Gly40Ala|241/1712|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.119G>C|p.Gly40Ala|322/1791|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.119G>C|p.Gly40Ala|360/1819|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.119G>C|p.Gly40Ala|272/1425|119/1272|40/423||,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.119G>C|p.Gly40Ala|176/894|119/837|40/278||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.119G>C|p.Gly40Ala|174/851|119/796|40/264||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.119G>C|p.Gly40Ala|274/882|119/727|40/241||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.119G>C|p.Gly40Ala|276/755|119/598|40/198||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.119G>C|p.Gly40Ala|190/582|119/511|40/169||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.119G>C|p.Gly40Ala|161/533|119/491|40/162||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.119G>C|p.Gly40Ala|328/656|119/447|40/148||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.119G>C|p.Gly40Ala|272/584|119/431|40/142||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.119G>C|p.Gly40Ala|420/639|119/338|40/111||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.119G>C|p.Gly40Ala|364/553|119/308|40/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.119G>C|p.Gly40Ala|457/639|119/301|40/99||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.119G>C|p.Gly40Ala|386/563|119/296|40/97||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.119G>C|p.Gly40Ala|399/567|119/287|40/94||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.119G>C|p.Gly40Ala|436/572|119/255|40/84||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.119G>C|p.Gly40Ala|459/567|119/227|40/74||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.119G>C|p.Gly40Ala|479/575|119/215|40/70||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|3/3|c.119G>C||||||,G|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Lumenal|ENST00000443111|protein_coding|2/3|c.119G>C||||||
22	30953280	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.100G>A|p.Val34Met|240/1728|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.100G>A|p.Val34Met|145/1635|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.100G>A|p.Val34Met|418/1908|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.100G>A|p.Val34Met|222/1712|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.100G>A|p.Val34Met|303/1791|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.100G>A|p.Val34Met|341/1819|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.100G>A|p.Val34Met|253/1425|100/1272|34/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.100G>A|p.Val34Met|157/894|100/837|34/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.100G>A|p.Val34Met|155/851|100/796|34/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.100G>A|p.Val34Met|255/882|100/727|34/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.100G>A|p.Val34Met|257/755|100/598|34/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.100G>A|p.Val34Met|171/582|100/511|34/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.100G>A|p.Val34Met|142/533|100/491|34/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.100G>A|p.Val34Met|309/656|100/447|34/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.100G>A|p.Val34Met|253/584|100/431|34/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.100G>A|p.Val34Met|401/639|100/338|34/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.100G>A|p.Val34Met|345/553|100/308|34/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.100G>A|p.Val34Met|438/639|100/301|34/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.100G>A|p.Val34Met|367/563|100/296|34/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.100G>A|p.Val34Met|380/567|100/287|34/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.100G>A|p.Val34Met|417/572|100/255|34/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.100G>A|p.Val34Met|440/567|100/227|34/74||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.100G>A|p.Val34Met|460/575|100/215|34/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|transmembrane_region:Transmembrane_region|ENST00000443111|protein_coding|2/3|c.100G>A||||||
22	30953295	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.85G>A|p.Val29Met|225/1728|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.85G>A|p.Val29Met|130/1635|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.85G>A|p.Val29Met|403/1908|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.85G>A|p.Val29Met|207/1712|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.85G>A|p.Val29Met|288/1791|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.85G>A|p.Val29Met|326/1819|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.85G>A|p.Val29Met|238/1425|85/1272|29/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.85G>A|p.Val29Met|142/894|85/837|29/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.85G>A|p.Val29Met|140/851|85/796|29/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.85G>A|p.Val29Met|240/882|85/727|29/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.85G>A|p.Val29Met|242/755|85/598|29/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.85G>A|p.Val29Met|156/582|85/511|29/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.85G>A|p.Val29Met|127/533|85/491|29/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.85G>A|p.Val29Met|294/656|85/447|29/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.85G>A|p.Val29Met|238/584|85/431|29/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.85G>A|p.Val29Met|386/639|85/338|29/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.85G>A|p.Val29Met|330/553|85/308|29/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.85G>A|p.Val29Met|423/639|85/301|29/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.85G>A|p.Val29Met|352/563|85/296|29/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.85G>A|p.Val29Met|365/567|85/287|29/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.85G>A|p.Val29Met|402/572|85/255|29/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.85G>A|p.Val29Met|425/567|85/227|29/74||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.85G>A|p.Val29Met|445/575|85/215|29/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|transmembrane_region:Transmembrane_region|ENST00000443111|protein_coding|2/3|c.85G>A||||||
22	30953352	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000338911|protein_coding|2/3|c.28G>A|p.Glu10Lys|168/1728|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406955|protein_coding|2/3|c.28G>A|p.Glu10Lys|73/1635|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402321|protein_coding|2/3|c.28G>A|p.Glu10Lys|346/1908|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding|2/3|c.28G>A|p.Glu10Lys|150/1712|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000401975|protein_coding|3/4|c.28G>A|p.Glu10Lys|231/1791|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding|3/4|c.28G>A|p.Glu10Lys|269/1819|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding|2/3|c.28G>A|p.Glu10Lys|181/1425|28/1272|10/423||,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000441967|protein_coding|2/3|c.28G>A|p.Glu10Lys|85/894|28/837|10/278||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding|2/3|c.28G>A|p.Glu10Lys|83/851|28/796|10/264||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000452827|protein_coding|3/4|c.28G>A|p.Glu10Lys|183/882|28/727|10/241||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000437282|protein_coding|3/4|c.28G>A|p.Glu10Lys|185/755|28/598|10/198||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding|2/3|c.28G>A|p.Glu10Lys|99/582|28/511|10/169||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000427899|protein_coding|2/3|c.28G>A|p.Glu10Lys|70/533|28/491|10/162||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423299|protein_coding|3/4|c.28G>A|p.Glu10Lys|237/656|28/447|10/148||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding|2/3|c.28G>A|p.Glu10Lys|181/584|28/431|10/142||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding|3/4|c.28G>A|p.Glu10Lys|329/639|28/338|10/111||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000428682|protein_coding|4/5|c.28G>A|p.Glu10Lys|273/553|28/308|10/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000453479|protein_coding|1/2|c.28G>A|p.Glu10Lys|366/639|28/301|10/99||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding|3/4|c.28G>A|p.Glu10Lys|295/563|28/296|10/97||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000447224|protein_coding|4/5|c.28G>A|p.Glu10Lys|308/567|28/287|10/94||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding|3/4|c.28G>A|p.Glu10Lys|345/572|28/255|10/84||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding|4/5|c.28G>A|p.Glu10Lys|368/567|28/227|10/74||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding|5/6|c.28G>A|p.Glu10Lys|388/575|28/215|10/70||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GAL3ST1|ENSG00000128242|topological_domain:Cytoplasmic|ENST00000443111|protein_coding|2/3|c.28G>A||||||
22	30973076	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|15/15|c.1724C>T|p.Ala575Val|1831/2295|1724/1767|575/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|17/17|c.1307C>T|p.Ala436Val|2299/2760|1307/1350|436/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|4/4|c.539C>T|p.Ala180Val|540/999|539/582|180/193||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|17/17|c.1307C>T|p.Ala436Val|2251/2708|1307/1350|436/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|15/15|c.1673C>T|p.Ala558Val|1720/2144|1673/1716|558/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|15/15|c.1709C>T|p.Ala570Val|1734/1988|1709/1752|570/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|14/15|c.1724C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000354694|protein_coding|15/15|c.1724C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|15/15|c.1709C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Required_for_28S_ribosomal_RNA_processing|ENST00000335214|protein_coding|14/15|c.1709C>T||||||,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>T|||||2511|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>T|||||2502|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443111|protein_coding||c.-154C>T|||||4259|,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>T|||||2578|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000416358|protein_coding||c.-72C>T|||||4225|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000443136|protein_coding||c.-154C>T|||||4259|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000423371|protein_coding||c.-302C>T|||||4221|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000426220|protein_coding||c.-268C>T|||||4255|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000411821|protein_coding||c.-318C>T|||||4220|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000445645|protein_coding||c.-341C>T|||||4231|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000448604|protein_coding||c.-361C>T|||||4220|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>T|||||4245|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|2/2|n.1279C>T||||||
22	30975162	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/15|c.1483C>G|p.Arg495Gly|1590/2295|1483/1767|495/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/17|c.1066C>G|p.Arg356Gly|2058/2760|1066/1350|356/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/4|c.301C>G|p.Arg101Gly|302/999|301/582|101/193||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/17|c.1066C>G|p.Arg356Gly|2010/2708|1066/1350|356/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/15|c.1432C>G|p.Arg478Gly|1479/2144|1432/1716|478/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/15|c.1468C>G|p.Arg490Gly|1493/1988|1468/1752|490/583||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|13/15|c.1483C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000354694|protein_coding|14/15|c.1483C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|13/15|c.1468C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|compositionally_biased_region:Glu-rich|ENST00000335214|protein_coding|14/15|c.1468C>G||||||,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>G|||||4597|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>G|||||4588|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>G|||||4664|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>G|||||2159|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.900C>G||||||
22	30975286	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|13/15|c.1359C>G|p.Asn453Lys|1466/2295|1359/1767|453/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|15/17|c.942C>G|p.Asn314Lys|1934/2760|942/1350|314/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|2/4|c.177C>G|p.Asn59Lys|178/999|177/582|59/193||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|15/17|c.942C>G|p.Asn314Lys|1886/2708|942/1350|314/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|13/15|c.1308C>G|p.Asn436Lys|1355/2144|1308/1716|436/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|13/15|c.1344C>G|p.Asn448Lys|1369/1988|1344/1752|448/583||,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000402369|protein_coding||c.-123C>G|||||4721|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000406361|protein_coding||c.-242C>G|||||4712|,C|upstream_gene_variant|MODIFIER|GAL3ST1|ENSG00000128242|transcript|ENST00000431313|protein_coding||c.-56C>G|||||4788|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78C>G|||||2035|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>G|||||4928|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.776C>G||||||
22	30975789	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1303G>A|p.Val435Ile|1410/2295|1303/1767|435/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.886G>A|p.Val296Ile|1878/2760|886/1350|296/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.121G>A|p.Val41Ile|122/999|121/582|41/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.886G>A|p.Val296Ile|1830/2708|886/1350|296/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1252G>A|p.Val418Ile|1299/2144|1252/1716|418/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1288G>A|p.Val430Ile|1313/1988|1288/1752|430/583||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1532|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4425|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.273G>A||||||
22	30975861	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1231G>A|p.Ala411Thr|1338/2295|1231/1767|411/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.814G>A|p.Ala272Thr|1806/2760|814/1350|272/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.49G>A|p.Ala17Thr|50/999|49/582|17/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.814G>A|p.Ala272Thr|1758/2708|814/1350|272/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1180G>A|p.Ala394Thr|1227/2144|1180/1716|394/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1216G>A|p.Ala406Thr|1241/1988|1216/1752|406/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000354694|protein_coding|12/15|c.1231G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1216G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1216G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1216G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000335214|protein_coding|12/15|c.1216G>A||||||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1460|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4353|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.201G>A||||||
22	30975864	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1228G>A|p.Val410Met|1335/2295|1228/1767|410/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.811G>A|p.Val271Met|1803/2760|811/1350|271/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.46G>A|p.Val16Met|47/999|46/582|16/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.811G>A|p.Val271Met|1755/2708|811/1350|271/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1177G>A|p.Val393Met|1224/2144|1177/1716|393/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1213G>A|p.Val405Met|1238/1988|1213/1752|405/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000354694|protein_coding|12/15|c.1228G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1213G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1213G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1213G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|turn|ENST00000335214|protein_coding|12/15|c.1213G>A||||||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1457|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4350|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.198G>A||||||
22	30975882	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|12/15|c.1210G>A|p.Ala404Thr|1317/2295|1210/1767|404/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|14/17|c.793G>A|p.Ala265Thr|1785/2760|793/1350|265/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding|1/4|c.28G>A|p.Ala10Thr|29/999|28/582|10/193||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|14/17|c.793G>A|p.Ala265Thr|1737/2708|793/1350|265/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|12/15|c.1159G>A|p.Ala387Thr|1206/2144|1159/1716|387/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|12/15|c.1195G>A|p.Ala399Thr|1220/1988|1195/1752|399/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000354694|protein_coding|12/15|c.1210G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1195G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1195G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1195G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|helix|ENST00000335214|protein_coding|12/15|c.1195G>A||||||,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1439|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4332|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron|1/2|n.180G>A||||||
22	30976107	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|11/15|c.1102G>A|p.Val368Ile|1209/2295|1102/1767|368/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|13/17|c.685G>A|p.Val229Ile|1677/2760|685/1350|229/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|13/17|c.685G>A|p.Val229Ile|1629/2708|685/1350|229/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|11/15|c.1051G>A|p.Val351Ile|1098/2144|1051/1716|351/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|11/15|c.1087G>A|p.Val363Ile|1112/1988|1087/1752|363/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1102G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1087G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1087G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1087G>A||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||197|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||46|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>A|||||1214|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>A|||||4107|
22	30976109	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|11/15|c.1100A>T|p.Asp367Val|1207/2295|1100/1767|367/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|13/17|c.683A>T|p.Asp228Val|1675/2760|683/1350|228/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|13/17|c.683A>T|p.Asp228Val|1627/2708|683/1350|228/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|11/15|c.1049A>T|p.Asp350Val|1096/2144|1049/1716|350/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|11/15|c.1085A>T|p.Asp362Val|1110/1988|1085/1752|362/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|11/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|10/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000354694|protein_coding|12/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.1100A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|10/15|c.1085A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|11/15|c.1085A>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|domain:BRCT|ENST00000335214|protein_coding|12/15|c.1085A>T||||||,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2A>T|||||199|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1A>T|||||48|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78A>T|||||1212|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513A>T|||||4105|
22	30976660	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|10/15|c.941G>C|p.Arg314Thr|1048/2295|941/1767|314/588||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|12/17|c.524G>C|p.Arg175Thr|1516/2760|524/1350|175/449||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|12/17|c.524G>C|p.Arg175Thr|1468/2708|524/1350|175/449||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|10/15|c.890G>C|p.Arg297Thr|937/2144|890/1716|297/571||,G|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|10/15|c.926G>C|p.Arg309Thr|951/1988|926/1752|309/583||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|11/15|c.941G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|10/15|c.941G>C||||||,G|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_interaction_with_MAP1B|ENST00000354694|protein_coding|12/15|c.941G>C||||||,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>C|||||750|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>C|||||599|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay||n.*78G>C|||||661|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513G>C|||||3554|,G|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>C|||||4551|
22	30977353	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|8/15|c.790A>T|p.Thr264Ser|897/2295|790/1767|264/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|10/17|c.373A>T|p.Thr125Ser|1365/2760|373/1350|125/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|10/17|c.373A>T|p.Thr125Ser|1317/2708|373/1350|125/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|8/15|c.739A>T|p.Thr247Ser|786/2144|739/1716|247/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|8/15|c.790A>T|p.Thr264Ser|815/1988|790/1752|264/583||,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|8/8|n.*761A>T|||||7900|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2A>T|||||1443|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1A>T|||||1292|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513A>T|||||2861|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560A>T|||||3858|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|8/8|n.*761A>T||||||
22	30977576	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|7/15|c.686C>T|p.Thr229Met|793/2295|686/1767|229/588||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|9/17|c.269C>T|p.Thr90Met|1261/2760|269/1350|90/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|9/17|c.269C>T|p.Thr90Met|1213/2708|269/1350|90/449||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|7/15|c.635C>T|p.Thr212Met|682/2144|635/1716|212/571||,A|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|7/15|c.686C>T|p.Thr229Met|711/1988|686/1752|229/583||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.686C>T||||||,A|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.686C>T||||||,A|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/8|n.*657C>T|||||7677|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>T|||||1666|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>T|||||1515|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.*513C>T|||||2638|,A|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>T|||||3635|,A|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|7/8|n.*657C>T||||||
22	30980547	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|5/15|c.526C>G|p.Arg176Gly|633/2295|526/1767|176/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|7/17|c.109C>G|p.Arg37Gly|1101/2760|109/1350|37/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|7/17|c.109C>G|p.Arg37Gly|1053/2708|109/1350|37/449||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|5/15|c.526C>G|p.Arg176Gly|573/2144|526/1716|176/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|5/15|c.526C>G|p.Arg176Gly|551/1988|526/1752|176/583||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.526C>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.526C>G||||||,C|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*497C>G|||||4706|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2C>G|||||4637|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1C>G|||||4486|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560C>G|||||664|,C|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713C>G|||||2438|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*497C>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|3/4|n.271C>G||||||
22	30980610	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|5/15|c.463G>A|p.Val155Met|570/2295|463/1767|155/588||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|7/17|c.46G>A|p.Val16Met|1038/2760|46/1350|16/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|7/17|c.46G>A|p.Val16Met|990/2708|46/1350|16/449||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|5/15|c.463G>A|p.Val155Met|510/2144|463/1716|155/571||,T|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|5/15|c.463G>A|p.Val155Met|488/1988|463/1752|155/583||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.463G>A||||||,T|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.463G>A||||||,T|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*434G>A|||||4643|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000441668|protein_coding||c.-2G>A|||||4700|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000488719|retained_intron||n.-1G>A|||||4549|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript||n.*560G>A|||||601|,T|downstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron||n.*713G>A|||||2375|,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|5/8|n.*434G>A||||||,T|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron|3/4|n.208G>A||||||
22	30984027	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000354694|protein_coding|3/15|c.239A>G|p.Asn80Ser|346/2295|239/1767|80/588||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000402284|protein_coding|3/15|c.239A>G|p.Asn80Ser|286/2144|239/1716|80/571||,C|missense_variant|MODERATE|PES1|ENSG00000100029|transcript|ENST00000335214|protein_coding|3/15|c.239A>G|p.Asn80Ser|264/1988|239/1752|80/583||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|2/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|1/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|4/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|5/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|6/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|3/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|8/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000354694|protein_coding|7/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|2/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|4/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|1/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|5/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|6/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|3/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|8/15|c.239A>G||||||,C|sequence_feature|LOW|PES1|ENSG00000100029|region_of_interest:Sufficient_for_nucleolar_localization|ENST00000335214|protein_coding|7/15|c.239A>G||||||,C|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding|5/17|c.-179A>G|||||3372|,C|5_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding|5/17|c.-179A>G|||||3372|,C|3_prime_UTR_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|3/8|n.*210A>G|||||1226|,C|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000477762|retained_intron||n.-1A>G|||||17|,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000406208|nonsense_mediated_decay|3/8|n.*210A>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000433575|processed_transcript|3/5|n.284A>G||||||,C|non_coding_exon_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000466614|retained_intron|3/4|n.296A>G||||||
22	31006882	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.89T>G|p.Leu30Arg|583/2535|89/1284|30/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.89T>G|p.Leu30Arg|418/637|89/308|30/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.89T>G|p.Leu30Arg|269/1936|89/1272|30/423||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.89T>G|p.Leu30Arg|217/1870|89/1203|30/400||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|2/9|c.89T>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|2/9|c.89T>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*100T>G|||||635|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993A>C|||||3812|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945A>C|||||3907|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1A>C|||||4026|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1A>C|||||3837|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>G|||||4797|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>G|||||4821|,G|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249T>G|||||4208|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*100T>G||||||
22	31006932	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.139C>A|p.Leu47Met|633/2535|139/1284|47/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.139C>A|p.Leu47Met|468/637|139/308|47/101||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.139C>A|p.Leu47Met|319/1936|139/1272|47/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.139C>A|p.Leu47Met|267/1870|139/1203|47/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|2/9|c.139C>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|2/9|c.139C>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*150C>A|||||685|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>T|||||3862|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>T|||||3957|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>T|||||4076|,A|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>T|||||3887|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>A|||||4747|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>A|||||4771|,A|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>A|||||4258|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*150C>A||||||
22	31006977	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.184A>G|p.Ser62Gly|678/2535|184/1284|62/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.184A>G|p.Ser62Gly|513/637|184/308|62/101||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.184A>G|p.Ser62Gly|364/1936|184/1272|62/423||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.184A>G|p.Ser62Gly|312/1870|184/1203|62/400||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|2/9|c.184A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|2/9|c.184A>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*195A>G|||||730|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993T>C|||||3907|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945T>C|||||4002|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1T>C|||||4121|,G|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1T>C|||||3932|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>G|||||4702|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>G|||||4726|,G|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249A>G|||||4303|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*195A>G||||||
22	31007023	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/9|c.230A>T|p.Lys77Met|724/2535|230/1284|77/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.230A>T|p.Lys77Met|559/637|230/308|77/101||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/9|c.230A>T|p.Lys77Met|410/1936|230/1272|77/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/9|c.230A>T|p.Lys77Met|358/1870|230/1203|77/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|2/9|c.230A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|2/9|c.230A>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*241A>T|||||776|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993T>A|||||3953|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945T>A|||||4048|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1T>A|||||4167|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1T>A|||||3978|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>T|||||4656|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>T|||||4680|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249A>T|||||4349|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/10|n.*241A>T||||||
22	31007082	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding|2/2|c.289C>T|p.Leu97Phe|618/637|289/308|97/101||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.257+32C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.257+32C>T||||||,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000402281|protein_coding||c.-993G>A|||||4012|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000405677|protein_coding||c.-945G>A|||||4107|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000467368|processed_transcript||n.-1G>A|||||4226|,T|upstream_gene_variant|MODIFIER|PES1|ENSG00000100029|transcript|ENST00000492986|processed_transcript||n.-1G>A|||||4037|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||4597|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||4621|,T|downstream_gene_variant|MODIFIER|RP1-56J10.8|ENSG00000223831|transcript|ENST00000432130|sense_intronic||n.*249C>T|||||4408|,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|2/8|c.257+32C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|3/9|n.*268+32C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/8|c.257+32C>T||||||,T|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|2/8|c.257+32C>T||||||
22	31008867	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.265T>C|p.Phe89Leu|759/2535|265/1284|89/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/9|c.265T>C|p.Phe89Leu|393/1870|265/1203|89/400||,C|splice_region_variant&intron_variant|LOW|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|2/8|c.258-5T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.265T>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.265T>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*276T>C|||||2620|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1T>C|||||2812|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1T>C|||||2836|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637T>C|||||1766|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*276T>C||||||
22	31008882	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.280G>A|p.Gly94Ser|774/2535|280/1284|94/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.268G>A|p.Gly90Ser|448/1936|268/1272|90/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/9|c.280G>A|p.Gly94Ser|408/1870|280/1203|94/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.280G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.280G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*291G>A|||||2635|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||2797|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||2821|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||1781|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*291G>A||||||
22	31008889	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.287G>A|p.Cys96Tyr|781/2535|287/1284|96/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.275G>A|p.Cys92Tyr|455/1936|275/1272|92/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/9|c.287G>A|p.Cys96Tyr|415/1870|287/1203|96/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.287G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.287G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*298G>A|||||2642|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||2790|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||2814|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||1788|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*298G>A||||||
22	31009026	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|3/9|c.424A>G|p.Ile142Val|918/2535|424/1284|142/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|3/9|c.412A>G|p.Ile138Val|592/1936|412/1272|138/423||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.424A>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|3/9|c.424A>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*435A>G|||||2779|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>G|||||2653|,G|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>G|||||2677|,G|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637A>G|||||1925|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|3/8|c.346+78A>G||||||,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|4/10|n.*435A>G||||||
22	31010408	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.500A>T|p.His167Leu|994/2535|500/1284|167/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.488A>T|p.His163Leu|668/1936|488/1272|163/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.419A>T|p.His140Leu|547/1870|419/1203|140/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.500A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.419A>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.419A>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*511A>T|||||4161|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1A>T|||||1271|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1A>T|||||1295|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637A>T|||||3307|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*511A>T||||||
22	31010417	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.509G>A|p.Arg170Gln|1003/2535|509/1284|170/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.497G>A|p.Arg166Gln|677/1936|497/1272|166/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.428G>A|p.Arg143Gln|556/1870|428/1203|143/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.509G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.428G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.428G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*520G>A|||||4170|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1262|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1286|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3316|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*520G>A||||||
22	31010431	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.523G>A|p.Val175Met|1017/2535|523/1284|175/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.511G>A|p.Val171Met|691/1936|511/1272|171/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.442G>A|p.Val148Met|570/1870|442/1203|148/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.523G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.442G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.442G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.442G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*534G>A|||||4184|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1248|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1272|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3330|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*534G>A||||||
22	31010455	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.547G>A|p.Val183Met|1041/2535|547/1284|183/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.535G>A|p.Val179Met|715/1936|535/1272|179/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.466G>A|p.Val156Met|594/1870|466/1203|156/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|4/9|c.547G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.466G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.466G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|4/9|c.466G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*558G>A|||||4208|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||1224|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||1248|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||3354|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*558G>A||||||
22	31010462	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|4/9|c.554C>T|p.Pro185Leu|1048/2535|554/1284|185/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|4/9|c.542C>T|p.Pro181Leu|722/1936|542/1272|181/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|4/9|c.473C>T|p.Pro158Leu|601/1870|473/1203|158/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.554C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|4/9|c.473C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000407817|protein_coding|5/9|c.473C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*565C>T|||||4215|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||1217|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||1241|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||3361|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|5/10|n.*565C>T||||||
22	31011330	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/9|c.623G>A|p.Arg208His|1117/2535|623/1284|208/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/9|c.611G>A|p.Arg204His|791/1936|611/1272|204/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/9|c.542G>A|p.Arg181His|670/1870|542/1203|181/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|5/9|c.623G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|5/9|c.542G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*634G>A|||||5083|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>A|||||349|,A|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>A|||||373|,A|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>A|||||4229|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*634G>A||||||
22	31011350	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|5/9|c.643C>T|p.Arg215Trp|1137/2535|643/1284|215/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|5/9|c.631C>T|p.Arg211Trp|811/1936|631/1272|211/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|5/9|c.562C>T|p.Arg188Trp|690/1870|562/1203|188/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|5/9|c.643C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|5/9|c.562C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*654C>T|||||5103|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||329|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||353|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4249|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|6/10|n.*654C>T||||||
22	31011609	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.775C>T|p.Arg259Cys|1269/2535|775/1284|259/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.763C>T|p.Arg255Cys|943/1936|763/1272|255/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.694C>T|p.Arg232Cys|822/1870|694/1203|232/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.775C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.775C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*786C>T|||||5362|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1C>T|||||70|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||94|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4508|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*786C>T||||||
22	31011610	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.776G>C|p.Arg259Pro|1270/2535|776/1284|259/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.764G>C|p.Arg255Pro|944/1936|764/1272|255/423||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.695G>C|p.Arg232Pro|823/1870|695/1203|232/400||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.776G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.776G>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*787G>C|||||5363|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>C|||||69|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>C|||||93|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>C|||||4509|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*787G>C||||||
22	31011618	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.784G>C|p.Glu262Gln|1278/2535|784/1284|262/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.772G>C|p.Glu258Gln|952/1936|772/1272|258/423||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.703G>C|p.Glu235Gln|831/1870|703/1203|235/400||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|2/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|1/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.784G>C||||||,C|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.703G>C||||||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*795G>C|||||5371|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron||n.-1G>C|||||61|,C|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1G>C|||||85|,C|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637G>C|||||4517|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*795G>C||||||
22	31011691	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|6/9|c.857C>T|p.Ala286Val|1351/2535|857/1284|286/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|6/9|c.845C>T|p.Ala282Val|1025/1936|845/1272|282/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|6/9|c.776C>T|p.Ala259Val|904/1870|776/1203|259/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|4/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|6/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|3/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|disulfide_bond|ENST00000215838|protein_coding|5/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000215838|protein_coding|6/9|c.857C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|helix|ENST00000407817|protein_coding|6/9|c.776C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*868C>T|||||5444|,T|upstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.-1C>T|||||12|,T|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000423350|protein_coding||c.*637C>T|||||4590|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|7/10|n.*868C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|1/2|n.13C>T||||||
22	31013374	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/9|c.998C>T|p.Thr333Met|1492/2535|998/1284|333/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/9|c.986C>T|p.Thr329Met|1166/1936|986/1272|329/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/9|c.917C>T|p.Thr306Met|1045/1870|917/1203|306/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|7/9|c.998C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|7/9|c.917C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1009C>T|||||7127|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1009C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|2/2|n.154C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/3|n.130C>T||||||
22	31013419	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|7/9|c.1043C>T|p.Ser348Phe|1537/2535|1043/1284|348/427||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|7/9|c.1031C>T|p.Ser344Phe|1211/1936|1031/1272|344/423||,T|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|7/9|c.962C>T|p.Ser321Phe|1090/1870|962/1203|321/400||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|7/9|c.1043C>T||||||,T|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|7/9|c.962C>T||||||,T|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1054C>T|||||7172|,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|8/10|n.*1054C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000471659|retained_intron|2/2|n.199C>T||||||,T|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|2/3|n.175C>T||||||
22	31018975	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/9|c.1127T>C|p.Leu376Ser|1621/2535|1127/1284|376/427||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/9|c.1115T>C|p.Leu372Ser|1295/1936|1115/1272|372/423||,C|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/9|c.1046T>C|p.Leu349Ser|1174/1870|1046/1203|349/400||,C|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1138T>C|||||12728|,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1138T>C||||||,C|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|3/3|n.259T>C||||||
22	31019044	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|8/9|c.1196G>A|p.Arg399Gln|1690/2535|1196/1284|399/427||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|8/9|c.1184G>A|p.Arg395Gln|1364/1936|1184/1272|395/423||,A|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|8/9|c.1115G>A|p.Arg372Gln|1243/1870|1115/1203|372/400||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000215838|protein_coding|8/9|c.1196G>A||||||,A|sequence_feature|LOW|TCN2|ENSG00000185339|beta_strand|ENST00000407817|protein_coding|8/9|c.1115G>A||||||,A|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1207G>A|||||12797|,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|9/10|n.*1207G>A||||||,A|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron|3/3|n.328G>A||||||
22	31022453	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000215838|protein_coding|9/9|c.1229C>G|p.Ala410Gly|1723/2535|1229/1284|410/427||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000405742|protein_coding|9/9|c.1217C>G|p.Ala406Gly|1397/1936|1217/1272|406/423||,G|missense_variant|MODERATE|TCN2|ENSG00000185339|transcript|ENST00000407817|protein_coding|9/9|c.1148C>G|p.Ala383Gly|1276/1870|1148/1203|383/400||,G|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000215838|protein_coding|9/9|c.1229C>G||||||,G|sequence_feature|LOW|TCN2|ENSG00000185339|turn|ENST00000407817|protein_coding|9/9|c.1148C>G||||||,G|3_prime_UTR_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|10/10|n.*1240C>G|||||16206|,G|downstream_gene_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000493542|retained_intron||n.*567C>G|||||3170|,G|non_coding_exon_variant|MODIFIER|TCN2|ENSG00000185339|transcript|ENST00000450638|nonsense_mediated_decay|10/10|n.*1240C>G||||||
22	31032909	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.472C>T|p.Arg158Cys|1271/2714|472/1053|158/350||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.472C>T|p.Arg158Cys|1117/1350|472/705|158/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.472C>T|p.Arg158Cys|600/2081|472/705|158/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.400C>T|p.Arg134Cys|400/2030|400/612|134/203||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.472C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.472C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.472C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.472C>T||||||
22	31032926	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.489G>T|p.Gln163His|1288/2714|489/1053|163/350||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.489G>T|p.Gln163His|1134/1350|489/705|163/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.489G>T|p.Gln163His|617/2081|489/705|163/234||,T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.417G>T|p.Gln139His|417/2030|417/612|139/203||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.489G>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.489G>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.489G>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.489G>T||||||
22	31032952	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|1/2|c.515T>G|p.Leu172Arg|1314/2714|515/1053|172/350||,G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/2|c.515T>G|p.Leu172Arg|1160/1350|515/705|172/234||,G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/3|c.515T>G|p.Leu172Arg|643/2081|515/705|172/234||,G|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/3|c.443T>G|p.Leu148Arg|443/2030|443/612|148/203||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.515T>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.515T>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000343605|protein_coding|1/2|c.515T>G||||||,G|sequence_feature|LOW|SLC35E4|ENSG00000100036|domain:EamA|ENST00000300385|protein_coding|1/2|c.515T>G||||||
22	31042606	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.641G>A|p.Arg214Lys|1440/2714|641/1053|214/350||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.641G>A||||||,A|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.641G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2541G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2541G>A||||||,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9550G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	31042881	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.916C>T|p.Arg306Cys|1715/2714|916/1053|306/350||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|1/2|c.916C>T||||||,T|sequence_feature|LOW|SLC35E4|ENSG00000100036|compositionally_biased_region:Leu-rich|ENST00000343605|protein_coding|2/2|c.916C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2266C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2266C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9825C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	31042974	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.1009C>T|p.Arg337Cys|1808/2714|1009/1053|337/350||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2173C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2173C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9918C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	31042989	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC35E4|ENSG00000100036|transcript|ENST00000343605|protein_coding|2/2|c.1024C>T|p.Arg342Trp|1823/2714|1024/1053|342/350||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000300385|protein_coding|1/1|c.620-2158C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding|1/2|c.620-2158C>T||||||,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.547+9933C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	31059444	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.547C>T|p.Arg183Cys|1053/2479|547/567|183/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.547C>T|p.Arg183Cys|1006/1306|547/567|183/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.547C>T|p.Arg183Cys|1678/1978|547/567|183/188||,A|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*83C>T|||||83|,A|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833G>A|||||158|,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding||c.*1157C>T|||||58|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657C>T|||||514|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-2036G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3350C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay|1/3|n.49C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.547C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay|1/2|n.1C>T||||||
22	31059446	.	A	T	.	.	ANN=T|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.545T>A|p.Val182Asp|1051/2479|545/567|182/188||,T|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.545T>A|p.Val182Asp|1004/1306|545/567|182/188||,T|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.545T>A|p.Val182Asp|1676/1978|545/567|182/188||,T|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*81T>A|||||81|,T|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1T>A|||||2|,T|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833A>T|||||160|,T|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding||c.*1157T>A|||||56|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657T>A|||||512|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-2034A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3348T>A||||||,T|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay|1/3|n.47T>A||||||,T|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.545T>A||||||
22	31059504	.	T	C	.	.	ANN=C|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.487A>G|p.Thr163Ala|993/2479|487/567|163/188||,C|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.487A>G|p.Thr163Ala|946/1306|487/567|163/188||,C|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.487A>G|p.Thr163Ala|1618/1978|487/567|163/188||,C|missense_variant&splice_region_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.487A>G|p.Thr163Ala|1155/1157|487/489|163/162||WARNING_TRANSCRIPT_NO_STOP_CODON,C|3_prime_UTR_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.*23A>G|||||23|,C|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2A>G|||||11|,C|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1A>G|||||60|,C|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833T>C|||||218|,C|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657A>G|||||454|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1976T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3290A>G||||||,C|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.487A>G||||||
22	31059663	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000334679|protein_coding|2/2|c.328C>T|p.Arg110Cys|834/2479|328/567|110/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000404885|protein_coding|2/3|c.328C>T|p.Arg110Cys|787/1306|328/567|110/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000407308|protein_coding|2/3|c.328C>T|p.Arg110Cys|1459/1978|328/567|110/188||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000403268|protein_coding|3/3|c.218C>T|p.Pro73Leu|689/2920|218/354|73/117||,A|missense_variant|MODERATE|DUSP18|ENSG00000167065|transcript|ENST00000342474|protein_coding|3/3|c.328C>T|p.Arg110Cys|996/1157|328/489|110/162||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|DUSP18|ENSG00000167065|domain:Tyrosine-protein_phosphatase|ENST00000404885|protein_coding|2/3|c.328C>T||||||,A|sequence_feature|LOW|DUSP18|ENSG00000167065|helix|ENST00000404885|protein_coding|2/3|c.328C>T||||||,A|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000430175|nonsense_mediated_decay||n.-2C>T|||||170|,A|upstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000412865|nonsense_mediated_decay||n.-1C>T|||||219|,A|downstream_gene_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000406566|protein_coding||c.*833G>A|||||377|,A|downstream_gene_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000442752|protein_coding||c.*657C>T|||||295|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SLC35E4|ENSG00000100036|transcript|ENST00000451479|protein_coding|1/2|c.548-1817G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000461301|processed_transcript|2/2|n.558+3131C>T||||||,A|non_coding_exon_variant|MODIFIER|DUSP18|ENSG00000167065|transcript|ENST00000377087|nonsense_mediated_decay|2/3|n.328C>T||||||
22	31091263	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.367G>A|p.Ala123Thr|471/4340|367/2751|123/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.367G>A|p.Ala123Thr|403/2992|367/2625|123/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.367G>A|p.Ala123Thr|388/2836|367/2748|123/915||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+932G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+932G>A||||||,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+932G>A||||||
22	31091305	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.409C>T|p.Leu137Phe|513/4340|409/2751|137/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.409C>T|p.Leu137Phe|445/2992|409/2625|137/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.409C>T|p.Leu137Phe|430/2836|409/2748|137/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+974C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+974C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+974C>T||||||
22	31091347	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.451C>T|p.Pro151Ser|555/4340|451/2751|151/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.451C>T|p.Pro151Ser|487/2992|451/2625|151/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.451C>T|p.Pro151Ser|472/2836|451/2748|151/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1016C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1016C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1016C>T||||||
22	31091429	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.533C>T|p.Ala178Val|637/4340|533/2751|178/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.533C>T|p.Ala178Val|569/2992|533/2625|178/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.533C>T|p.Ala178Val|554/2836|533/2748|178/915||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1098C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1098C>T||||||,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1098C>T||||||
22	31091525	.	T	G	.	.	ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|1/14|c.629T>G|p.Leu210Trp|733/4340|629/2751|210/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|1/12|c.629T>G|p.Leu210Trp|665/2992|629/2625|210/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|1/14|c.629T>G|p.Leu210Trp|650/2836|629/2748|210/915||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|2/14|c.629T>G||||||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|1/14|c.629T>G||||||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|1/14|c.629T>G||||||,G|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|2/14|c.629T>G||||||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|2/2|c.149+1194T>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|2/14|c.149+1194T>G||||||,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|1/13|c.125+1194T>G||||||
22	31137298	.	G	C	.	.	ANN=C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|2/14|c.795G>C|p.Trp265Cys|899/4340|795/2751|265/916||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000438716|protein_coding|3/3|c.300G>C|p.Trp100Cys|579/635|300/356|100/117||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|3/15|c.300G>C|p.Trp100Cys|579/2747|300/2253|100/750||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|2/14|c.276G>C|p.Trp92Cys|420/3669|276/2232|92/743||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|2/12|c.795G>C|p.Trp265Cys|831/2992|795/2625|265/874||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|2/14|c.795G>C|p.Trp265Cys|816/2836|795/2748|265/915||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|2/14|c.795G>C||||||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000332585|protein_coding|1/14|c.795G>C||||||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|1/14|c.795G>C||||||,C|sequence_feature|LOW|OSBP2|ENSG00000184792|domain:PH|ENST00000446658|protein_coding|2/14|c.795G>C||||||
22	31266574	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|3/14|c.1012G>A|p.Asp338Asn|1116/4340|1012/2751|338/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|4/15|c.517G>A|p.Asp173Asn|796/2747|517/2253|173/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|3/14|c.493G>A|p.Asp165Asn|637/3669|493/2232|165/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|3/12|c.1012G>A|p.Asp338Asn|1048/2992|1012/2625|338/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|3/14|c.1012G>A|p.Asp338Asn|1033/2836|1012/2748|338/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|2/13|c.238G>A|p.Asp80Asn|353/2470|238/1980|80/659||,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding|3/4|c.-87G>A|||||87|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|2/13|c.-87G>A|||||87|,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|2/6|c.-87G>A|||||87|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000477355|processed_transcript|4/4|n.521G>A||||||,A|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496367|processed_transcript|2/3|n.181G>A||||||
22	31283492	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1187G>A|p.Arg396His|1291/4340|1187/2751|396/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.692G>A|p.Arg231His|971/2747|692/2253|231/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.668G>A|p.Arg223His|812/3669|668/2232|223/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1187G>A|p.Arg396His|1223/2992|1187/2625|396/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1187G>A|p.Arg396His|1208/2836|1187/2748|396/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.89G>A|p.Arg30His|474/2468|89/1650|30/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.89G>A|p.Arg30His|426/861|89/524|30/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.413G>A|p.Arg138His|528/2470|413/1980|138/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.200G>A|p.Arg67His|202/589|200/587|67/194||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.200G>A|p.Arg67His|202/895|200/893|67/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.200G>A|p.Arg67His|202/3050|200/1764|67/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.80G>A|p.Arg27His|80/2763|80/1353|27/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-179G>A|||||783|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3444|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON
22	31283494	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1189G>A|p.Val397Met|1293/4340|1189/2751|397/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.694G>A|p.Val232Met|973/2747|694/2253|232/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.670G>A|p.Val224Met|814/3669|670/2232|224/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1189G>A|p.Val397Met|1225/2992|1189/2625|397/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1189G>A|p.Val397Met|1210/2836|1189/2748|397/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.91G>A|p.Val31Met|476/2468|91/1650|31/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.91G>A|p.Val31Met|428/861|91/524|31/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.415G>A|p.Val139Met|530/2470|415/1980|139/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.202G>A|p.Val68Met|204/589|202/587|68/194||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.202G>A|p.Val68Met|204/895|202/893|68/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.202G>A|p.Val68Met|204/3050|202/1764|68/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.82G>A|p.Val28Met|82/2763|82/1353|28/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-177G>A||||||,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-177G>A|||||781|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3442|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON
22	31283602	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|4/14|c.1297G>A|p.Glu433Lys|1401/4340|1297/2751|433/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|5/15|c.802G>A|p.Glu268Lys|1081/2747|802/2253|268/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|4/14|c.778G>A|p.Glu260Lys|922/3669|778/2232|260/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|4/12|c.1297G>A|p.Glu433Lys|1333/2992|1297/2625|433/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|4/14|c.1297G>A|p.Glu433Lys|1318/2836|1297/2748|433/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|3/13|c.199G>A|p.Glu67Lys|584/2468|199/1650|67/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|3/6|c.199G>A|p.Glu67Lys|536/861|199/524|67/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|3/13|c.523G>A|p.Glu175Lys|638/2470|523/1980|175/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|2/5|c.310G>A|p.Glu104Lys|312/589|310/587|104/194||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|2/7|c.310G>A|p.Glu104Lys|312/895|310/893|104/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|2/12|c.310G>A|p.Glu104Lys|312/3050|310/1764|104/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|1/10|c.190G>A|p.Glu64Lys|190/2763|190/1353|64/450||WARNING_TRANSCRIPT_NO_START_CODON,A|5_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|2/12|c.-69G>A|||||673|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||3334|,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||124|WARNING_TRANSCRIPT_NO_STOP_CODON
22	31284281	.	G	T	.	.	ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|5/14|c.1372G>T|p.Asp458Tyr|1476/4340|1372/2751|458/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|6/15|c.877G>T|p.Asp293Tyr|1156/2747|877/2253|293/750||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|5/14|c.853G>T|p.Asp285Tyr|997/3669|853/2232|285/743||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|5/12|c.1372G>T|p.Asp458Tyr|1408/2992|1372/2625|458/874||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|5/14|c.1372G>T|p.Asp458Tyr|1393/2836|1372/2748|458/915||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|4/13|c.274G>T|p.Asp92Tyr|659/2468|274/1650|92/549||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|4/6|c.274G>T|p.Asp92Tyr|611/861|274/524|92/173||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|4/13|c.598G>T|p.Asp200Tyr|713/2470|598/1980|200/659||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|3/5|c.385G>T|p.Asp129Tyr|387/589|385/587|129/194||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|3/7|c.385G>T|p.Asp129Tyr|387/895|385/893|129/296||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|3/12|c.7G>T|p.Asp3Tyr|387/2045|7/1383|3/460||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|3/12|c.385G>T|p.Asp129Tyr|387/3050|385/1764|129/587||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|2/10|c.265G>T|p.Asp89Tyr|265/2763|265/1353|89/450||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>T|||||2655|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>T|||||4947|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>T|||||803|WARNING_TRANSCRIPT_NO_STOP_CODON
22	31285190	.	C	G	.	.	ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|6/14|c.1445C>G|p.Thr482Arg|1549/4340|1445/2751|482/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|7/15|c.947C>G|p.Thr316Arg|1226/2747|947/2253|316/750||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|6/14|c.926C>G|p.Thr309Arg|1070/3669|926/2232|309/743||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/12|c.1445C>G|p.Thr482Arg|1481/2992|1445/2625|482/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|6/14|c.1442C>G|p.Thr481Arg|1463/2836|1442/2748|481/915||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|5/13|c.344C>G|p.Thr115Arg|729/2468|344/1650|115/549||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|5/6|c.347C>G|p.Thr116Arg|684/861|347/524|116/173||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|5/13|c.671C>G|p.Thr224Arg|786/2470|671/1980|224/659||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|4/5|c.458C>G|p.Thr153Arg|460/589|458/587|153/194||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|4/7|c.455C>G|p.Thr152Arg|457/895|455/893|152/296||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|4/12|c.77C>G|p.Thr26Arg|457/2045|77/1383|26/460||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|4/12|c.458C>G|p.Thr153Arg|460/3050|458/1764|153/587||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|3/10|c.338C>G|p.Thr113Arg|338/2763|338/1353|113/450||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>G|||||1746|,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>G|||||4038|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>G|||||1712|WARNING_TRANSCRIPT_NO_STOP_CODON
22	31285597	.	C	T	.	.	ANN=T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|7/14|c.1597C>T|p.Arg533Trp|1701/4340|1597/2751|533/916||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|8/15|c.1099C>T|p.Arg367Trp|1378/2747|1099/2253|367/750||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|7/14|c.1078C>T|p.Arg360Trp|1222/3669|1078/2232|360/743||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|7/14|c.1594C>T|p.Arg532Trp|1615/2836|1594/2748|532/915||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|6/13|c.496C>T|p.Arg166Trp|881/2468|496/1650|166/549||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding|6/6|c.499C>T|p.Arg167Trp|836/861|499/524|167/173||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|6/13|c.823C>T|p.Arg275Trp|938/2470|823/1980|275/659||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding|5/5|c.580C>T|p.Arg194Trp|582/589|580/587|194/194||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|5/7|c.607C>T|p.Arg203Trp|609/895|607/893|203/296||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|5/12|c.229C>T|p.Arg77Trp|609/2045|229/1383|77/460||,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|5/12|c.610C>T|p.Arg204Trp|612/3050|610/1764|204/587||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|4/10|c.490C>T|p.Arg164Trp|490/2763|490/1353|164/450||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1C>T|||||1339|,T|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2C>T|||||3631|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559C>T|||||2119|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|6/11|c.1476+376C>T||||||
22	31286725	.	A	G	.	.	ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/14|c.1634A>G|p.Asn545Ser|1738/4340|1634/2751|545/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/15|c.1136A>G|p.Asn379Ser|1415/2747|1136/2253|379/750||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/14|c.1115A>G|p.Asn372Ser|1259/3669|1115/2232|372/743||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/12|c.1487A>G|p.Asn496Ser|1523/2992|1487/2625|496/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/14|c.1631A>G|p.Asn544Ser|1652/2836|1631/2748|544/915||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/13|c.533A>G|p.Asn178Ser|918/2468|533/1650|178/549||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/13|c.860A>G|p.Asn287Ser|975/2470|860/1980|287/659||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/7|c.644A>G|p.Asn215Ser|646/895|644/893|215/296||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/12|c.266A>G|p.Asn89Ser|646/2045|266/1383|89/460||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/12|c.647A>G|p.Asn216Ser|649/3050|647/1764|216/587||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/10|c.527A>G|p.Asn176Ser|527/2763|527/1353|176/450||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1A>G|||||211|,G|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2A>G|||||2503|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559A>G|||||3247|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861A>G|||||1103|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589A>G|||||1121|WARNING_TRANSCRIPT_INCOMPLETE
22	31286928	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|8/14|c.1837G>A|p.Asp613Asn|1941/4340|1837/2751|613/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|9/15|c.1339G>A|p.Asp447Asn|1618/2747|1339/2253|447/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|8/14|c.1318G>A|p.Asp440Asn|1462/3669|1318/2232|440/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|7/12|c.1690G>A|p.Asp564Asn|1726/2992|1690/2625|564/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|8/14|c.1834G>A|p.Asp612Asn|1855/2836|1834/2748|612/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|7/13|c.736G>A|p.Asp246Asn|1121/2468|736/1650|246/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|7/13|c.1063G>A|p.Asp355Asn|1178/2470|1063/1980|355/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding|6/7|c.847G>A|p.Asp283Asn|849/895|847/893|283/296||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|6/12|c.469G>A|p.Asp157Asn|849/2045|469/1383|157/460||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|6/12|c.850G>A|p.Asp284Asn|852/3050|850/1764|284/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|5/10|c.730G>A|p.Asp244Asn|730/2763|730/1353|244/450||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript||n.-1G>A|||||8|,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>A|||||2300|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000445781|protein_coding||c.*559G>A|||||3450|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||1306|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||1324|WARNING_TRANSCRIPT_INCOMPLETE
22	31289164	.	G	A	.	.	ANN=A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|9/14|c.1925G>A|p.Ser642Asn|2029/4340|1925/2751|642/916||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|10/15|c.1427G>A|p.Ser476Asn|1706/2747|1427/2253|476/750||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|9/14|c.1406G>A|p.Ser469Asn|1550/3669|1406/2232|469/743||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|8/12|c.1778G>A|p.Ser593Asn|1814/2992|1778/2625|593/874||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|9/14|c.1922G>A|p.Ser641Asn|1943/2836|1922/2748|641/915||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|8/13|c.824G>A|p.Ser275Asn|1209/2468|824/1650|275/549||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|8/13|c.1151G>A|p.Ser384Asn|1266/2470|1151/1980|384/659||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|7/12|c.557G>A|p.Ser186Asn|937/2045|557/1383|186/460||,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|7/12|c.938G>A|p.Ser313Asn|940/3050|938/1764|313/587||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|6/10|c.818G>A|p.Ser273Asn|818/2763|818/1353|273/450||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding||c.-2G>A|||||64|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>A|||||3542|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>A|||||3560|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|1/2|n.26-286G>A||||||
22	31289477	.	G	C	.	.	ANN=C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|10/14|c.2018G>C|p.Ser673Thr|2122/4340|2018/2751|673/916||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|11/15|c.1520G>C|p.Ser507Thr|1799/2747|1520/2253|507/750||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|10/14|c.1499G>C|p.Ser500Thr|1643/3669|1499/2232|500/743||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|9/12|c.1871G>C|p.Ser624Thr|1907/2992|1871/2625|624/874||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|10/14|c.2015G>C|p.Ser672Thr|2036/2836|2015/2748|672/915||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|9/13|c.917G>C|p.Ser306Thr|1302/2468|917/1650|306/549||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|9/13|c.1244G>C|p.Ser415Thr|1359/2470|1244/1980|415/659||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|8/12|c.650G>C|p.Ser217Thr|1030/2045|650/1383|217/460||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|8/12|c.1031G>C|p.Ser344Thr|1033/3050|1031/1764|344/587||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|7/10|c.911G>C|p.Ser304Thr|911/2763|911/1353|304/450||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|2/3|c.29G>C|p.Ser10Thr|30/932|29/225|10/74||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861G>C|||||3855|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589G>C|||||3873|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895G>C|||||355|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|2/3|n.53G>C||||||
22	31289891	.	A	G	.	.	ANN=G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|12/14|c.2278A>G|p.Met760Val|2382/4340|2278/2751|760/916||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|13/15|c.1780A>G|p.Met594Val|2059/2747|1780/2253|594/750||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|12/14|c.1759A>G|p.Met587Val|1903/3669|1759/2232|587/743||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|11/12|c.2131A>G|p.Met711Val|2167/2992|2131/2625|711/874||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|12/14|c.2275A>G|p.Met759Val|2296/2836|2275/2748|759/915||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|11/13|c.1177A>G|p.Met393Val|1562/2468|1177/1650|393/549||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|11/13|c.1504A>G|p.Met502Val|1619/2470|1504/1980|502/659||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|10/12|c.910A>G|p.Met304Val|1290/2045|910/1383|304/460||,G|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|10/12|c.1291A>G|p.Met431Val|1293/3050|1291/1764|431/587||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000433183|protein_coding|3/3|c.*147A>G|||||147|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000424224|protein_coding||c.*861A>G|||||4269|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000454145|protein_coding||c.*589A>G|||||4287|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000453621|protein_coding||c.*895A>G|||||769|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|8/9|c.1083+171A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000496575|processed_transcript|3/3|n.396A>G||||||
22	31302243	.	G	C	.	.	ANN=C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000332585|protein_coding|14/14|c.2668G>C|p.Gly890Arg|2772/4340|2668/2751|890/916||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000403222|protein_coding|15/15|c.2170G>C|p.Gly724Arg|2449/2747|2170/2253|724/750||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000407373|protein_coding|14/14|c.2149G>C|p.Gly717Arg|2293/3669|2149/2232|717/743||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000446658|protein_coding|14/14|c.2665G>C|p.Gly889Arg|2686/2836|2665/2748|889/915||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000401475|protein_coding|13/13|c.1567G>C|p.Gly523Arg|1952/2468|1567/1650|523/549||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000437268|protein_coding|13/13|c.1897G>C|p.Gly633Arg|2012/2470|1897/1980|633/659||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000535268|protein_coding|12/12|c.1300G>C|p.Gly434Arg|1680/2045|1300/1383|434/460||,C|missense_variant|MODERATE|OSBP2|ENSG00000184792|transcript|ENST00000431368|protein_coding|12/12|c.1681G>C|p.Gly561Arg|1683/3050|1681/1764|561/587||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000382310|protein_coding|12/12|c.*23G>C|||||23|,C|3_prime_UTR_variant|MODIFIER|OSBP2|ENSG00000184792|transcript|ENST00000452656|protein_coding|10/10|c.*23G>C|||||23|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|EIF4HP2|ENSG00000237977|transcript|ENST00000424380|processed_pseudogene||n.*563G>C|||||3475|
22	31324124	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|25/26|c.2912C>G|p.Ser971Cys|3321/5181|2912/3099|971/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding|1/2|c.92C>G|p.Ser31Cys|92/462|92/270|31/89||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|4/5|c.395C>G|p.Ser132Cys|396/766|395/573|132/190||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|26/27|c.2726C>G|p.Ser909Cys|4090/4469|2726/2913|909/970||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|26/26|c.2912C>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000397641|protein_coding|25/26|c.2912C>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|26/27|c.2726C>G||||||,C|sequence_feature|LOW|MORC2|ENSG00000133422|coiled-coil_region|ENST00000215862|protein_coding|27/27|c.2726C>G||||||,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000422995|antisense||n.*2274G>C|||||1483|,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000432624|antisense||n.*2030G>C|||||1587|,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000609557|antisense||n.*596G>C|||||2945|,C|intron_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense|1/2|n.68-1740G>C||||||
22	31328601	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|23/26|c.2678G>A|p.Arg893His|3087/5181|2678/3099|893/1032||,T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding|2/5|c.161G>A|p.Arg54His|162/766|161/573|54/190||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|24/27|c.2492G>A|p.Arg831His|3856/4469|2492/2913|831/970||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000429468|protein_coding||c.-1G>A|||||4386|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>T|||||165|,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>A|||||3964|
22	31330169	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|20/26|c.2203A>G|p.Ser735Gly|2612/5181|2203/3099|735/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|21/27|c.2017A>G|p.Ser673Gly|3381/4469|2017/2913|673/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||1288|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425T>C|||||1733|,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595A>G|||||2396|
22	31330837	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|19/26|c.2124G>T|p.Glu708Asp|2533/5181|2124/3099|708/1032||,A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|20/27|c.1938G>T|p.Glu646Asp|3302/4469|1938/2913|646/970||,A|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>T|||||1956|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>A|||||2401|,A|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>T|||||1728|
22	31331019	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|19/26|c.1942A>G|p.Ser648Gly|2351/5181|1942/3099|648/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|20/27|c.1756A>G|p.Ser586Gly|3120/4469|1756/2913|586/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2A>G|||||2138|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425T>C|||||2583|,C|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595A>G|||||1546|
22	31331293	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|18/26|c.1754G>A|p.Arg585His|2163/5181|1754/3099|585/1032||,T|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|19/27|c.1568G>A|p.Arg523His|2932/4469|1568/2913|523/970||,T|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000445980|protein_coding||c.-2G>A|||||2412|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MORC2-AS1|ENSG00000235989|transcript|ENST00000441558|antisense||n.*425C>T|||||2857|,T|downstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.*595G>A|||||1272|
22	31337950	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|8/26|c.626A>G|p.Asn209Ser|1035/5181|626/3099|209/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|9/27|c.440A>G|p.Asn147Ser|1804/4469|440/2913|147/970||,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|2/6|n.180A>G||||||,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|7/7|n.748A>G||||||
22	31338196	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|7/26|c.489G>T|p.Glu163Asp|898/5181|489/3099|163/1032||,A|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|8/27|c.303G>T|p.Glu101Asp|1667/4469|303/2913|101/970||,A|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript|1/6|n.43G>T||||||,A|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|6/7|n.611G>T||||||
22	31342429	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000397641|protein_coding|6/26|c.325A>G|p.Met109Val|734/5181|325/3099|109/1032||,C|missense_variant|MODERATE|MORC2|ENSG00000133422|transcript|ENST00000215862|protein_coding|7/27|c.139A>G|p.Met47Val|1503/4469|139/2913|47/970||,C|upstream_gene_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000469915|processed_transcript||n.-1A>G|||||4191|,C|non_coding_exon_variant|MODIFIER|MORC2|ENSG00000133422|transcript|ENST00000476152|retained_intron|5/7|n.447A>G||||||
22	31479234	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/6|c.152G>A|p.Gly51Glu|445/567|152/274|51/90||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/5|c.152G>A|p.Gly51Glu|302/574|152/424|51/140||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/5|c.152G>A|p.Gly51Glu|296/599|152/455|51/150||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/6|c.152G>A|p.Gly51Glu|153/545|152/544|51/180||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/21|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/4|c.-11G>A|||||11|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/21|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/20|c.-11G>A|||||11|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.-530G>A|||||1846|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.-61G>A|||||4630|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||4854|,A|non_coding_exon_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense|1/1|n.318C>T||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|2/4|n.209G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/5|n.209G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/3|n.208G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/20|n.207G>A||||||
22	31479282	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/21|c.38C>T|p.Ala13Val|256/3198|38/2823|13/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/6|c.200C>T|p.Ala67Val|493/567|200/274|67/90||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/4|c.38C>T|p.Ala13Val|493/566|38/111|13/36||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/5|c.200C>T|p.Ala67Val|350/574|200/424|67/140||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/5|c.200C>T|p.Ala67Val|344/599|200/455|67/150||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/21|c.38C>T|p.Ala13Val|256/3295|38/2748|13/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/20|c.38C>T|p.Ala13Val|256/3130|38/2754|13/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/6|c.200C>T|p.Ala67Val|201/545|200/544|67/180||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.-530C>T|||||1798|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.-61C>T|||||4582|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1C>T|||||4806|,T|non_coding_exon_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense|1/1|n.270G>A||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|2/4|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/5|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/3|n.256C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/20|n.255C>T||||||
22	31483934	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/5|c.11T>C|p.Leu4Pro|71/534|11/474|4/157||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1A>G|||||4383|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1T>C|||||154|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1T>C|||||1708|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1T>C|||||4520|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|2/20|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|5/5|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|3/3|c.52-17T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|3/4|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|3/4|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|2/4|n.271-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|2/2|n.270-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|2/20|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|2/19|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|2/19|n.269-17T>C||||||,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|2/5|c.214-17T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|2/6|c.-213-17T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|3/4|n.286T>C||||||
22	31484003	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|3/21|c.104G>A|p.Arg35Gln|322/3198|104/2823|35/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding|6/6|c.266G>A|p.Arg89Gln|559/567|266/274|89/90||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding|4/4|c.104G>A|p.Arg35Gln|559/566|104/111|35/36||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding|4/5|c.266G>A|p.Arg89Gln|416/574|266/424|89/140||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding|4/5|c.266G>A|p.Arg89Gln|410/599|266/455|89/150||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|3/21|c.104G>A|p.Arg35Gln|322/3295|104/2748|35/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|3/20|c.104G>A|p.Arg35Gln|322/3130|104/2754|35/917||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding|3/6|c.266G>A|p.Arg89Gln|267/545|266/544|89/180||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|1/5|c.80G>A|p.Arg27Gln|140/534|80/474|27/157||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|3/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|4/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|3/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|4/21|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|3/20|c.104G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|4/20|c.104G>A||||||,A|5_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|3/7|c.-161G>A|||||560|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|RP3-412A9.16|ENSG00000273387|transcript|ENST00000609017|antisense||n.-1C>T|||||4452|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.-1G>A|||||85|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1G>A|||||1639|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||4451|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript|3/4|n.355G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript|3/5|n.323G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron|3/3|n.322G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|3/20|n.321G>A||||||
22	31484930	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|6/21|c.446C>T|p.Ala149Val|664/3198|446/2823|149/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|6/21|c.446C>T|p.Ala149Val|664/3295|446/2748|149/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|6/20|c.446C>T|p.Ala149Val|664/3130|446/2754|149/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|6/7|c.182C>T|p.Ala61Val|711/823|182/294|61/97||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding|4/5|c.422C>T|p.Ala141Val|482/534|422/474|141/157||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.-1C>T|||||712|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||3524|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||4414|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||4424|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||919|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||920|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||370|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||353|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||339|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||220|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||691|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||64|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|6/20|n.722C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|4/15|n.258C>T||||||
22	31485749	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|7/21|c.536G>A|p.Gly179Asp|754/3198|536/2823|179/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|7/21|c.536G>A|p.Gly179Asp|754/3295|536/2748|179/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|7/20|c.536G>A|p.Gly179Asp|754/3130|536/2754|179/917||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding|7/7|c.272G>A|p.Gly91Asp|801/823|272/294|91/97||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||2705|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||3595|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||3605|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||1738|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||1739|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||1189|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||1172|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||1158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||1039|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||1510|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||883|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||38|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|7/20|n.812G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|5/15|n.348G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|1/4|n.108G>A||||||
22	31485923	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|7/21|c.710C>T|p.Pro237Leu|928/3198|710/2823|237/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|7/21|c.710C>T|p.Pro237Leu|928/3295|710/2748|237/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|7/20|c.710C>T|p.Pro237Leu|928/3130|710/2754|237/917||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000358743|protein_coding|8/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000358743|protein_coding|7/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000333137|protein_coding|8/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000333137|protein_coding|7/21|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000347557|protein_coding|8/20|c.710C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|compositionally_biased_region:Pro-rich|ENST00000347557|protein_coding|7/20|c.710C>T||||||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||2531|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||3421|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||3431|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||1912|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||1913|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||1363|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||1346|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||1332|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||1213|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||1684|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||1057|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||152|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||212|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|7/20|n.986C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|5/15|n.522C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|1/4|n.282C>T||||||
22	31486985	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.976C>T|p.Arg326Trp|1194/3198|976/2823|326/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.976C>T|p.Arg326Trp|1194/3295|976/2748|326/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.976C>T|p.Arg326Trp|1194/3130|976/2754|326/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||1469|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||2359|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||2369|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||2974|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||2975|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||2425|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||2408|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||2394|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2275|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||2746|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2119|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1214|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1274|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1252C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.788C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron|4/4|n.548C>T||||||
22	31487064	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.1055C>T|p.Pro352Leu|1273/3198|1055/2823|352/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.1055C>T|p.Pro352Leu|1273/3295|1055/2748|352/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.1055C>T|p.Pro352Leu|1273/3130|1055/2754|352/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||1390|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||2280|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||2290|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3053|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3054|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||2504|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||2487|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||2473|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2354|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||2825|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2198|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1293|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1353|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||51|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1331C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.867C>T||||||
22	31487268	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.1259G>A|p.Gly420Asp|1477/3198|1259/2823|420/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.1259G>A|p.Gly420Asp|1477/3295|1259/2748|420/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.1259G>A|p.Gly420Asp|1477/3130|1259/2754|420/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||1186|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||2076|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||2086|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3257|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3258|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||2708|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||2691|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||2677|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2558|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3029|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2402|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1497|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1557|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||255|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1535G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.1071G>A||||||
22	31487354	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|10/21|c.1345G>A|p.Gly449Ser|1563/3198|1345/2823|449/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|10/21|c.1345G>A|p.Gly449Ser|1563/3295|1345/2748|449/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|10/20|c.1345G>A|p.Gly449Ser|1563/3130|1345/2754|449/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||1100|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1990|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||2000|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3343|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3344|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||2794|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||2777|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||2763|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2644|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3115|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2488|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1583|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1643|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||341|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|10/20|n.1621G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|8/15|n.1157G>A||||||
22	31487679	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1478G>A|p.Arg493Gln|1696/3198|1478/2823|493/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1478G>A|p.Arg493Gln|1696/3295|1478/2748|493/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1478G>A|p.Arg493Gln|1696/3130|1478/2754|493/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||775|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1665|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1675|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3668|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3669|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3119|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3102|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3088|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2969|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3440|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2813|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1908|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1968|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||666|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1754G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1290G>A||||||
22	31487682	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1481C>T|p.Ala494Val|1699/3198|1481/2823|494/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1481C>T|p.Ala494Val|1699/3295|1481/2748|494/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1481C>T|p.Ala494Val|1699/3130|1481/2754|494/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||772|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1662|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1672|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3671|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3672|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3122|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3105|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3091|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||2972|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3443|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2816|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1911|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||1971|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||669|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1757C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1293C>T||||||
22	31487706	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1505G>A|p.Ser502Asn|1723/3198|1505/2823|502/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1505G>A|p.Ser502Asn|1723/3295|1505/2748|502/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1505G>A|p.Ser502Asn|1723/3130|1505/2754|502/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||748|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1638|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1648|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3695|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3696|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3146|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3129|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3115|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||2996|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3467|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2840|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1935|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||1995|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||693|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1781G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1317G>A||||||
22	31487732	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1531C>T|p.Arg511Cys|1749/3198|1531/2823|511/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1531C>T|p.Arg511Cys|1749/3295|1531/2748|511/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1531C>T|p.Arg511Cys|1749/3130|1531/2754|511/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1C>T|||||722|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91C>T|||||1612|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1C>T|||||1622|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567C>T|||||3721|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566C>T|||||3722|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574C>T|||||3172|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589C>T|||||3155|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599C>T|||||3141|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598C>T|||||3022|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558C>T|||||3493|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545C>T|||||2866|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823C>T|||||1961|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534C>T|||||2021|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||719|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1807C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1343C>T||||||
22	31487733	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1532G>A|p.Arg511His|1750/3198|1532/2823|511/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1532G>A|p.Arg511His|1750/3295|1532/2748|511/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1532G>A|p.Arg511His|1750/3130|1532/2754|511/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||721|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1611|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1621|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3722|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3723|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3173|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3156|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3142|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||3023|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3494|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2867|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||1962|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||2022|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||720|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1808G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1344G>A||||||
22	31487814	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|11/21|c.1613G>A|p.Arg538Gln|1831/3198|1613/2823|538/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|11/21|c.1613G>A|p.Arg538Gln|1831/3295|1613/2748|538/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|11/20|c.1613G>A|p.Arg538Gln|1831/3130|1613/2754|538/917||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding||c.-1G>A|||||640|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.-91G>A|||||1530|,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.-1G>A|||||1540|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000432777|protein_coding||c.*567G>A|||||3803|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000422839|protein_coding||c.*566G>A|||||3804|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000426927|protein_coding||c.*574G>A|||||3254|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000482444|processed_transcript||n.*589G>A|||||3237|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000440425|protein_coding||c.*599G>A|||||3223|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000475548|processed_transcript||n.*598G>A|||||3104|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000497697|retained_intron||n.*558G>A|||||3575|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000438223|protein_coding||c.*545G>A|||||2948|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000416786|protein_coding||c.*823G>A|||||2043|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000431481|protein_coding||c.*534G>A|||||2103|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>A|||||801|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|11/20|n.1889G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|9/15|n.1425G>A||||||
22	31491295	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|12/21|c.1639G>C|p.Ala547Pro|1857/3198|1639/2823|547/940||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|12/21|c.1639G>C|p.Ala547Pro|1857/3295|1639/2748|547/915||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|12/20|c.1639G>C|p.Ala547Pro|1857/3130|1639/2754|547/917||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|2/6|c.70G>C|p.Ala24Pro|70/648|70/648|24/215||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|2/9|c.436G>C|p.Ala146Pro|526/1735|436/1317|146/438||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>C|||||4353|,C|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576G>C|||||4282|,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|12/20|n.1915G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.1451G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|3/11|n.411G>C||||||
22	31491332	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|12/21|c.1676C>T|p.Ala559Val|1894/3198|1676/2823|559/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|12/21|c.1676C>T|p.Ala559Val|1894/3295|1676/2748|559/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|12/20|c.1676C>T|p.Ala559Val|1894/3130|1676/2754|559/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|2/6|c.107C>T|p.Ala36Val|107/648|107/648|36/215||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|2/9|c.473C>T|p.Ala158Val|563/1735|473/1317|158/438||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||4316|,T|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000466272|retained_intron||n.*576C>T|||||4319|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|12/20|n.1952C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.1488C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|3/11|n.448C>T||||||
22	31492743	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1886G>A|p.Arg629Gln|2104/3198|1886/2823|629/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1886G>A|p.Arg629Gln|2104/3295|1886/2748|629/915||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1886G>A|p.Arg629Gln|2104/3130|1886/2754|629/917||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|14/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000358743|protein_coding|13/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|14/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000333137|protein_coding|13/21|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|14/20|c.1886G>A||||||,A|sequence_feature|LOW|SMTN|ENSG00000183963|coiled-coil_region|ENST00000347557|protein_coding|13/20|c.1886G>A||||||,A|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>A|||||2905|,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-512G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-512G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2162G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2899G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1539G>A||||||
22	31492781	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1924C>T|p.Arg642Cys|2142/3198|1924/2823|642/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1924C>T|p.Arg642Cys|2142/3295|1924/2748|642/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1924C>T|p.Arg642Cys|2142/3130|1924/2754|642/917||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||2867|,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-474C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-474C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2200C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2937C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1577C>T||||||
22	31492816	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|14/21|c.1959C>G|p.His653Gln|2177/3198|1959/2823|653/940||,G|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|14/21|c.1959C>G|p.His653Gln|2177/3295|1959/2748|653/915||,G|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|14/20|c.1959C>G|p.His653Gln|2177/3130|1959/2754|653/917||,G|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>G|||||2832|,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|3/5|c.293-439C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|3/8|c.659-439C>G||||||,G|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|14/20|n.2235C>G||||||,G|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|10/15|n.2972C>G||||||,G|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|5/11|n.1612C>G||||||
22	31494795	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|17/21|c.2302A>T|p.Ile768Phe|2520/3198|2302/2823|768/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|17/21|c.2302A>T|p.Ile768Phe|2520/3295|2302/2748|768/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|17/20|c.2302A>T|p.Ile768Phe|2520/3130|2302/2754|768/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|5/6|c.505A>T|p.Ile169Phe|505/648|505/648|169/215||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|5/9|c.871A>T|p.Ile291Phe|961/1735|871/1317|291/438||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1A>T|||||853|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1A>T|||||3067|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|16/20|n.2786A>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|13/15|n.3315A>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|7/11|n.2163A>T||||||
22	31494813	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|17/21|c.2320G>C|p.Glu774Gln|2538/3198|2320/2823|774/940||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|17/21|c.2320G>C|p.Glu774Gln|2538/3295|2320/2748|774/915||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|17/20|c.2320G>C|p.Glu774Gln|2538/3130|2320/2754|774/917||,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|5/6|c.523G>C|p.Glu175Gln|523/648|523/648|175/215||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|5/9|c.889G>C|p.Glu297Gln|979/1735|889/1317|297/438||,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1G>C|||||835|,C|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1G>C|||||3049|,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|16/20|n.2804G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|13/15|n.3333G>C||||||,C|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|7/11|n.2181G>C||||||
22	31495154	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|18/21|c.2440C>T|p.Arg814Cys|2658/3198|2440/2823|814/940||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|18/21|c.2440C>T|p.Arg814Cys|2658/3295|2440/2748|814/915||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|18/20|c.2440C>T|p.Arg814Cys|2658/3130|2440/2754|814/917||,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000455608|protein_coding|6/6|c.643C>T|p.Arg215Cys|643/648|643/648|215/215||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|6/9|c.1009C>T|p.Arg337Cys|1099/1735|1009/1317|337/438||,T|sequence_feature|LOW|SMTN|ENSG00000183963|beta_strand|ENST00000358743|protein_coding|18/21|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|beta_strand|ENST00000333137|protein_coding|18/21|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|20/20|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|18/20|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|domain:CH|ENST00000347557|protein_coding|19/20|c.2440C>T||||||,T|sequence_feature|LOW|SMTN|ENSG00000183963|beta_strand|ENST00000347557|protein_coding|18/20|c.2440C>T||||||,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.-1C>T|||||494|,T|upstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.-1C>T|||||2708|,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|17/20|n.2924C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron|14/15|n.3453C>T||||||,T|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|8/11|n.2301C>T||||||
22	31500415	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding|21/21|c.2786G>A|p.Arg929Gln|3004/3198|2786/2823|929/940||,A|missense_variant|MODERATE|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding|20/20|c.2717G>A|p.Arg906Gln|2935/3130|2717/2754|906/917||,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding|21/21|c.*134G>A|||||3400|,A|3_prime_UTR_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding|9/9|c.*134G>A|||||3400|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding||c.*501C>T|||||348|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||2646|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding||c.*856C>T|||||343|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron||n.*2070C>T|||||348|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript||n.*703C>T|||||497|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript||n.*605C>T|||||572|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||584|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||596|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||685|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||1010|,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron|20/20|n.3366G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron|11/11|n.2743G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron|2/2|n.349G>A||||||,A|non_coding_exon_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron|2/2|n.2280G>A||||||
22	31500991	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|5/5|c.403C>T|p.Pro135Ser|466/694|403/438|135/145||,A|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|7/7|c.403C>T|p.Pro135Ser|821/1054|403/438|135/145||,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966G>A|||||381|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972G>A|||||381|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080G>A|||||3222|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543G>A|||||382|,A|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608G>A|||||248|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron||n.*673C>T|||||8|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript||n.*500C>T|||||20|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron||n.*334C>T|||||109|,A|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707C>T|||||434|,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|4/4|n.1842C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|5/5|n.624C>T||||||,A|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|5/5|n.601C>T||||||
22	31501259	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000400299|protein_coding|4/5|c.214A>C|p.Met72Leu|277/694|214/438|72/145||,G|missense_variant|MODERATE|SELM|ENSG00000198832|transcript|ENST00000402395|protein_coding|6/7|c.214A>C|p.Met72Leu|632/1054|214/438|72/145||,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000358743|protein_coding||c.*3041T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000333137|protein_coding||c.*2966T>G|||||649|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000347557|protein_coding||c.*2972T>G|||||649|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000489337|retained_intron||n.*3560T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000460658|retained_intron||n.*5080T>G|||||3490|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000404574|protein_coding||c.*1407T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000493335|retained_intron||n.*2937T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000472911|retained_intron||n.*543T>G|||||650|,G|downstream_gene_variant|MODIFIER|SMTN|ENSG00000183963|transcript|ENST00000504335|retained_intron||n.*2608T>G|||||516|,G|downstream_gene_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465447|retained_intron||n.*707A>C|||||166|,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000490967|retained_intron|3/4|n.1653A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000465536|processed_transcript|4/5|n.435A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000491958|processed_transcript|4/5|n.412A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000495533|retained_intron|1/2|n.492A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000460642|processed_transcript|4/5|n.331A>C||||||,G|non_coding_exon_variant|MODIFIER|SELM|ENSG00000198832|transcript|ENST00000469262|retained_intron|4/4|n.175A>C||||||
22	31522450	.	G	A	.	.	ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|3/13|c.1360G>A|p.Asp454Asn|1409/3347|1360/3021|454/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|4/14|c.1159G>A|p.Asp387Asn|1531/3212|1159/2820|387/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|2/4|c.55G>A|p.Asp19Asn|307/558|55/306|19/101||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|4/14|c.259G>A|p.Asp87Asn|455/2393|259/1920|87/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|3/13|c.256G>A|p.Asp86Asn|277/2215|256/1917|86/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|5/15|c.259G>A|p.Asp87Asn|577/2515|259/1920|87/639||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1360G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.259G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.256G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.256G>A||||||,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>A|||||1296|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>A|||||1325|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>A|||||1338|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||1583|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||1091|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|2/8|n.234G>A||||||
22	31522624	.	A	G	.	.	ANN=G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|4/13|c.1411A>G|p.Asn471Asp|1460/3347|1411/3021|471/1006||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|5/14|c.1210A>G|p.Asn404Asp|1582/3212|1210/2820|404/939||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|3/4|c.106A>G|p.Asn36Asp|358/558|106/306|36/101||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|5/14|c.310A>G|p.Asn104Asp|506/2393|310/1920|104/639||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|4/13|c.307A>G|p.Asn103Asp|328/2215|307/1917|103/638||,G|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|6/15|c.310A>G|p.Asn104Asp|628/2515|310/1920|104/639||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1411A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.310A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.307A>G||||||,G|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.307A>G||||||,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310A>G|||||1122|,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281A>G|||||1151|,G|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419A>G|||||1164|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526A>G|||||1757|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805A>G|||||1265|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.285A>G||||||
22	31522949	.	G	A	.	.	ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|5/13|c.1537G>A|p.Ala513Thr|1586/3347|1537/3021|513/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|6/14|c.1336G>A|p.Ala446Thr|1708/3212|1336/2820|446/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding|4/4|c.232G>A|p.Ala78Thr|484/558|232/306|78/101||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|6/14|c.436G>A|p.Ala146Thr|632/2393|436/1920|146/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|5/13|c.433G>A|p.Ala145Thr|454/2215|433/1917|145/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|7/15|c.436G>A|p.Ala146Thr|754/2515|436/1920|146/639||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1537G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.436G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.433G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.433G>A||||||,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.-310G>A|||||797|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.-281G>A|||||826|,A|upstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.-419G>A|||||839|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||2082|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||1590|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|3/8|n.610G>A||||||
22	31524249	.	G	A	.	.	ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|8/13|c.1949G>A|p.Gly650Glu|1998/3347|1949/3021|650/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|9/14|c.1748G>A|p.Gly583Glu|2120/3212|1748/2820|583/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|9/14|c.848G>A|p.Gly283Glu|1044/2393|848/1920|283/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|8/13|c.845G>A|p.Gly282Glu|866/2215|845/1917|282/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|10/15|c.848G>A|p.Gly283Glu|1166/2515|848/1920|283/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|2/6|c.44G>A|p.Gly15Glu|353/1564|44/1038|15/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|2/7|c.44G>A|p.Gly15Glu|324/1613|44/1116|15/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|1/6|c.44G>A|p.Gly15Glu|462/1751|44/1116|15/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|7/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|3/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|5/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|8/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|6/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|9/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000331075|protein_coding|4/13|c.1949G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|8/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|4/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|6/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|9/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|7/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|10/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000400294|protein_coding|5/14|c.848G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|7/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|3/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|5/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|8/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|6/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|9/13|c.845G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Catalytic|ENST00000404390|protein_coding|4/13|c.845G>A||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000463528|processed_transcript||n.*526G>A|||||3382|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412985|protein_coding||c.*805G>A|||||2890|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000420017|protein_coding||c.*558G>A|||||1226|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|5/8|n.1341G>A||||||
22	31529142	.	G	A	.	.	ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|10/13|c.2252G>A|p.Arg751Gln|2301/3347|2252/3021|751/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|11/14|c.2051G>A|p.Arg684Gln|2423/3212|2051/2820|684/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|11/14|c.1151G>A|p.Arg384Gln|1347/2393|1151/1920|384/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|10/13|c.1148G>A|p.Arg383Gln|1169/2215|1148/1917|383/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|12/15|c.1151G>A|p.Arg384Gln|1469/2515|1151/1920|384/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|4/6|c.347G>A|p.Arg116Gln|656/1564|347/1038|116/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|4/7|c.347G>A|p.Arg116Gln|627/1613|347/1116|116/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|3/6|c.347G>A|p.Arg116Gln|765/1751|347/1116|116/371||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2252G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1151G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1148G>A||||||,A|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1148G>A||||||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||1653|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|7/8|n.1644G>A||||||
22	31529903	.	C	T	.	.	ANN=T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2519C>T|p.Ser840Leu|2568/3347|2519/3021|840/1006||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2318C>T|p.Ser773Leu|2690/3212|2318/2820|773/939||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1418C>T|p.Ser473Leu|1614/2393|1418/1920|473/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1415C>T|p.Ser472Leu|1436/2215|1415/1917|472/638||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1418C>T|p.Ser473Leu|1736/2515|1418/1920|473/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.536C>T|p.Ser179Leu|845/1564|536/1038|179/345||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.614C>T|p.Ser205Leu|894/1613|614/1116|205/371||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.614C>T|p.Ser205Leu|1032/1751|614/1116|205/371||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|10/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|11/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|13/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|9/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000331075|protein_coding|12/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000331075|protein_coding|13/13|c.2519C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|11/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|12/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|14/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|10/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000400294|protein_coding|13/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000400294|protein_coding|14/14|c.1418C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|10/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|11/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|13/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|9/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|region_of_interest:Required_for_ruffle_localization|ENST00000404390|protein_coding|12/13|c.1415C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000404390|protein_coding|13/13|c.1415C>T||||||,T|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>A|||||892|,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2031C>T||||||
22	31530073	.	C	T	.	.	ANN=T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2689C>T|p.Leu897Phe|2738/3347|2689/3021|897/1006||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2488C>T|p.Leu830Phe|2860/3212|2488/2820|830/939||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1588C>T|p.Leu530Phe|1784/2393|1588/1920|530/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1585C>T|p.Leu529Phe|1606/2215|1585/1917|529/638||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1588C>T|p.Leu530Phe|1906/2515|1588/1920|530/639||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.706C>T|p.Leu236Phe|1015/1564|706/1038|236/345||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.784C>T|p.Leu262Phe|1064/1613|784/1116|262/371||,T|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.784C>T|p.Leu262Phe|1202/1751|784/1116|262/371||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000331075|protein_coding|13/13|c.2689C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000400294|protein_coding|14/14|c.1588C>T||||||,T|sequence_feature|LOW|INPP5J|ENSG00000185133|compositionally_biased_region:Ser-rich|ENST00000404390|protein_coding|13/13|c.1585C>T||||||,T|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783G>A|||||722|,T|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2201C>T||||||
22	31530271	.	G	A	.	.	ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2887G>A|p.Ala963Thr|2936/3347|2887/3021|963/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2686G>A|p.Ala896Thr|3058/3212|2686/2820|896/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1786G>A|p.Ala596Thr|1982/2393|1786/1920|596/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1783G>A|p.Ala595Thr|1804/2215|1783/1917|595/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1786G>A|p.Ala596Thr|2104/2515|1786/1920|596/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.904G>A|p.Ala302Thr|1213/1564|904/1038|302/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.982G>A|p.Ala328Thr|1262/1613|982/1116|328/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.982G>A|p.Ala328Thr|1400/1751|982/1116|328/371||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||524|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2399G>A||||||
22	31530308	.	G	A	.	.	ANN=A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2924G>A|p.Gly975Asp|2973/3347|2924/3021|975/1006||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2723G>A|p.Gly908Asp|3095/3212|2723/2820|908/939||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1823G>A|p.Gly608Asp|2019/2393|1823/1920|608/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1820G>A|p.Gly607Asp|1841/2215|1820/1917|607/638||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1823G>A|p.Gly608Asp|2141/2515|1823/1920|608/639||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.941G>A|p.Gly314Asp|1250/1564|941/1038|314/345||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.1019G>A|p.Gly340Asp|1299/1613|1019/1116|340/371||,A|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.1019G>A|p.Gly340Asp|1437/1751|1019/1116|340/371||,A|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783C>T|||||487|,A|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2436G>A||||||
22	31530344	.	A	C	.	.	ANN=C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding|13/13|c.2960A>C|p.Asn987Thr|3009/3347|2960/3021|987/1006||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding|14/14|c.2759A>C|p.Asn920Thr|3131/3212|2759/2820|920/939||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding|14/14|c.1859A>C|p.Asn620Thr|2055/2393|1859/1920|620/639||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding|13/13|c.1856A>C|p.Asn619Thr|1877/2215|1856/1917|619/638||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding|15/15|c.1859A>C|p.Asn620Thr|2177/2515|1859/1920|620/639||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding|6/6|c.977A>C|p.Asn326Thr|1286/1564|977/1038|326/345||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding|7/7|c.1055A>C|p.Asn352Thr|1335/1613|1055/1116|352/371||,C|missense_variant|MODERATE|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding|6/6|c.1055A>C|p.Asn352Thr|1473/1751|1055/1116|352/371||,C|downstream_gene_variant|MODIFIER|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding||c.*1783T>G|||||451|,C|non_coding_exon_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron|8/8|n.2472A>C||||||
22	31531788	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.1451T>G|p.Met484Arg|1704/2697|1451/1530|484/509||,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192A>C|||||1363|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238A>C|||||1106|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347A>C|||||1166|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396A>C|||||1166|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534A>C|||||1166|
22	31531849	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.1390C>T|p.Leu464Phe|1643/2697|1390/1530|464/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||1424|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||1167|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||1227|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||1227|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||1227|
22	31531875	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|7/7|c.1364G>A|p.Arg455Gln|1617/2697|1364/1530|455/509||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||1450|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||1193|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||1253|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||1253|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||1253|
22	31532697	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|6/7|c.1288C>T|p.Pro430Ser|1541/2697|1288/1530|430/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||2272|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||2015|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||2075|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||2075|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||2075|
22	31532702	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|6/7|c.1283T>C|p.Leu428Pro|1536/2697|1283/1530|428/509||,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192A>G|||||2277|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238A>G|||||2020|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347A>G|||||2080|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396A>G|||||2080|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534A>G|||||2080|
22	31532960	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|5/7|c.1133G>A|p.Arg378Gln|1386/2697|1133/1530|378/509||,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>T|||||2535|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>T|||||2278|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>T|||||2338|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>T|||||2338|,T|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>T|||||2338|
22	31533751	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.1011G>C|p.Arg337Ser|1264/2697|1011/1530|337/509||,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192C>G|||||3326|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238C>G|||||3069|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347C>G|||||3129|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396C>G|||||3129|,G|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534C>G|||||3129|
22	31533796	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.966C>G|p.Ser322Arg|1219/2697|966/1530|322/509||,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>C|||||3371|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>C|||||3114|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>C|||||3174|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>C|||||3174|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>C|||||3174|
22	31533843	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.919C>T|p.His307Tyr|1172/2697|919/1530|307/509||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3418|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3161|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3221|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3221|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3221|
22	31533869	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.893C>G|p.Ala298Gly|1146/2697|893/1530|298/509||,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>C|||||3444|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>C|||||3187|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>C|||||3247|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>C|||||3247|,C|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>C|||||3247|
22	31533906	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|4/7|c.856C>T|p.Arg286Trp|1109/2697|856/1530|286/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.856C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.856C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.856C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.856C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3481|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3224|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3284|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3284|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3284|
22	31534280	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|3/7|c.764C>T|p.Ala255Val|1017/2697|764/1530|255/509||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.764C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.764C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.764C>T||||||,A|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.764C>T||||||,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000331075|protein_coding||c.*3070G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000412277|protein_coding||c.*3192G>A|||||3855|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000461241|retained_intron||n.*2810G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000400294|protein_coding||c.*2116G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404390|protein_coding||c.*1938G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000405300|protein_coding||c.*2238G>A|||||3598|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000402238|protein_coding||c.*1347G>A|||||3658|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000404453|protein_coding||c.*1396G>A|||||3658|,A|downstream_gene_variant|MODIFIER|INPP5J|ENSG00000185133|transcript|ENST00000401755|protein_coding||c.*1534G>A|||||3658|
22	31535872	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.469C>G|p.Leu157Val|722/2697|469/1530|157/509||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|3/7|c.469C>G||||||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|2/7|c.469C>G||||||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|4/7|c.469C>G||||||,C|sequence_feature|LOW|PLA2G3|ENSG00000100078|region_of_interest:Phospholipase_A2-like|ENST00000215885|protein_coding|1/7|c.469C>G||||||
22	31535995	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.346G>C|p.Glu116Gln|599/2697|346/1530|116/509||
22	31536005	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.336G>C|p.Gln112His|589/2697|336/1530|112/509||
22	31536074	.	A	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.267T>A|p.His89Gln|520/2697|267/1530|89/509||
22	31536133	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.208T>G|p.Ser70Ala|461/2697|208/1530|70/509||
22	31536159	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.182G>A|p.Arg61His|435/2697|182/1530|61/509||
22	31536160	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.181C>T|p.Arg61Cys|434/2697|181/1530|61/509||
22	31536232	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G3|ENSG00000100078|transcript|ENST00000215885|protein_coding|1/7|c.109G>A|p.Val37Ile|362/2697|109/1530|37/509||
22	31583112	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.32C>T|p.Ser11Phe|191/3171|32/579|11/192||,T|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.32C>T|p.Ser11Phe|141/2946|32/411|11/136||,T|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.-42C>T|||||42|,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5558C>T||||||,T|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5558C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.32C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.239C>T||||||
22	31583129	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.49G>A|p.Ala17Thr|208/3171|49/579|17/192||,A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.49G>A|p.Ala17Thr|158/2946|49/411|17/136||,A|5_prime_UTR_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.-25G>A|||||25|,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5541G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5541G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.49G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.256G>A||||||
22	31583169	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|2/7|c.89G>A|p.Ser30Asn|248/3171|89/579|30/192||,A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|2/6|c.16G>A|p.Ala6Thr|259/994|16/393|6/130||,A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|2/5|c.89G>A|p.Ser30Asn|198/2946|89/411|30/136||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|1/4|n.122-5501G>A||||||,A|intron_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|1/5|n.97-5501G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|2/8|n.89G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|3/5|n.296G>A||||||
22	31588676	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RNF185|ENSG00000138942|transcript|ENST00000426256|protein_coding|3/6|c.110G>A|p.Arg37His|353/994|110/393|37/130||,A|synonymous_variant|LOW|RNF185|ENSG00000138942|transcript|ENST00000326132|protein_coding|3/7|c.183G>A|p.Pro61Pro|342/3171|183/579|61/192||,A|synonymous_variant|LOW|RNF185|ENSG00000138942|transcript|ENST00000266252|protein_coding|3/5|c.183G>A|p.Pro61Pro|292/2946|183/411|61/136||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000494514|retained_intron|2/5|n.128G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000471384|retained_intron|2/6|n.103G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000518626|nonsense_mediated_decay|3/8|n.183G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|ENSG00000138942|transcript|ENST00000468921|retained_intron|4/5|n.390G>A||||||
22	31621792	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/12|c.103G>A|p.Gly35Ser|233/2863|103/1179|35/392||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/16|c.103G>A|p.Gly35Ser|217/3670|103/1917|35/638||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.103G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.103G>A||||||,A|upstream_gene_variant|MODIFIER|RNU6-1128P|ENSG00000199695|transcript|ENST00000362825|snRNA||n.-1C>T|||||2953|,A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000202019|transcript|ENST00000365149|misc_RNA||n.*102C>T|||||4265|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-119+13382G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/3|n.273G>A||||||
22	31644710	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.8G>A|p.Ser3Asn|238/2789|8/2061|3/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.8G>A|p.Ser3Asn|367/606|8/247|3/81||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.8G>A|p.Ser3Asn|323/3462|8/1854|3/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9567G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9567G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9567G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9567G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17222G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9567G>A||||||
22	31644730	.	T	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.28T>G|p.Tyr10Asp|258/2789|28/2061|10/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.28T>G|p.Tyr10Asp|387/606|28/247|10/81||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.28T>G|p.Tyr10Asp|343/3462|28/1854|10/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9547T>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9547T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9547T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9547T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17202T>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9547T>G||||||
22	31644731	.	A	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|1/15|c.29A>G|p.Tyr10Cys|259/2789|29/2061|10/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|1/2|c.29A>G|p.Tyr10Cys|388/606|29/247|10/81||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|1/15|c.29A>G|p.Tyr10Cys|344/3462|29/1854|10/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.117-9546A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.117-9546A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|2/2|n.287-9546A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|1/14|c.-118-9546A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-17201A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|2/15|c.117-9546A>G||||||
22	31654293	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|2/15|c.70G>A|p.Asp24Asn|300/2789|70/2061|24/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|3/16|c.133G>A|p.Asp45Asn|247/3670|133/1917|45/638||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding|2/2|c.70G>A|p.Asp24Asn|429/606|70/247|24/81||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|2/15|c.70G>A|p.Asp24Asn|385/3462|70/1854|24/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|3/16|c.133G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:LIM_zinc-binding_1|ENST00000331728|protein_coding|2/16|c.133G>A||||||,A|5_prime_UTR_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|2/15|c.-102G>A|||||102|,A|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.-1G>A|||||652|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-7639G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron|3/3|n.303G>A||||||
22	31656011	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|4/15|c.436G>A|p.Val146Met|666/2789|436/2061|146/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|4/15|c.265G>A|p.Val89Met|534/2657|265/1890|89/629||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|5/16|c.499G>A|p.Val167Met|613/3670|499/1917|167/638||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|4/15|c.436G>A|p.Val146Met|751/3462|436/1854|146/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.499G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.499G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.499G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.436G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.436G>A||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042G>A|||||979|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606G>A|||||1541|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-5921G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|2/5|n.409G>A||||||
22	31658175	.	C	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.544C>G|p.Arg182Gly|774/2789|544/2061|182/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.373C>G|p.Arg125Gly|642/2657|373/1890|125/629||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.607C>G|p.Arg203Gly|721/3670|607/1917|203/638||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.544C>G|p.Arg182Gly|859/3462|544/1854|182/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.607C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.607C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.607C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.544C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.544C>G||||||,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>G|||||3143|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>G|||||3705|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3757C>G||||||,G|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.517C>G||||||
22	31658205	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.574C>T|p.Arg192Cys|804/2789|574/2061|192/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.403C>T|p.Arg135Cys|672/2657|403/1890|135/629||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.637C>T|p.Arg213Cys|751/3670|637/1917|213/638||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.574C>T|p.Arg192Cys|889/3462|574/1854|192/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.637C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.637C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.637C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.574C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.574C>T||||||,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042C>T|||||3173|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606C>T|||||3735|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3727C>T||||||,T|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.547C>T||||||
22	31658215	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|5/15|c.584G>A|p.Arg195Gln|814/2789|584/2061|195/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|5/15|c.413G>A|p.Arg138Gln|682/2657|413/1890|138/629||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|6/16|c.647G>A|p.Arg216Gln|761/3670|647/1917|216/638||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|5/15|c.584G>A|p.Arg195Gln|899/3462|584/1854|195/617||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|5/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|4/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000340552|protein_coding|6/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|6/16|c.647G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|5/16|c.647G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000331728|protein_coding|7/16|c.647G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|5/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|4/15|c.584G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:PDZ|ENST00000333611|protein_coding|6/15|c.584G>A||||||,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000462625|retained_intron||n.*1042G>A|||||3183|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000425203|protein_coding||c.*606G>A|||||3745|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|2/11|c.117-3717G>A||||||,A|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron|3/5|n.557G>A||||||
22	31663885	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|9/15|c.1189C>T|p.Arg397Cys|1419/2789|1189/2061|397/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|9/15|c.1018C>T|p.Arg340Cys|1287/2657|1018/1890|340/629||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|5/12|c.514C>T|p.Arg172Cys|644/2863|514/1179|172/392||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|10/16|c.1252C>T|p.Arg418Cys|1366/3670|1252/1917|418/638||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|9/15|c.1189C>T|p.Arg397Cys|1504/3462|1189/1854|397/617||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1252C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1189C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1189C>T||||||,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.-1C>T|||||4572|,T|upstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.-1C>T|||||4775|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000465937|retained_intron||n.*951C>T|||||1767|
22	31672782	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1717C>T|p.Pro573Ser|1947/2789|1717/2061|573/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1546C>T|p.Pro516Ser|1815/2657|1546/1890|516/629||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1772+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1709+1488C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1709+1488C>T||||||,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>A|||||4797|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>T|||||1131|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>A|||||4798|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>A|||||4817|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>A|||||4883|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1034+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1772+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1709+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.317+1488C>T||||||
22	31672837	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1772G>A|p.Arg591His|2002/2789|1772/2061|591/686||,A|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1601G>A|p.Arg534His|1870/2657|1601/1890|534/629||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1446G>A||||||,A|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1446G>A||||||,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976C>T|||||4742|,A|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805G>A|||||1186|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030C>T|||||4743|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712C>T|||||4762|,A|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684C>T|||||4828|,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1446G>A||||||
22	31672933	.	A	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.1868A>G|p.Asp623Gly|2098/2789|1868/2061|623/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1697A>G|p.Asp566Gly|1966/2657|1697/1890|566/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1350A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1350A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4646|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1282|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4647|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4666|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4732|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1350A>G||||||
22	31673092	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2027C>T|p.Ala676Val|2257/2789|2027/2061|676/686||,T|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1856C>T|p.Ala619Val|2125/2657|1856/1890|619/629||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1191C>T||||||,T|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1191C>T||||||,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>A|||||4487|,T|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>T|||||1441|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>A|||||4488|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>A|||||4507|,T|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>A|||||4573|,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1191C>T||||||
22	31673116	.	A	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2051A>G|p.Gln684Arg|2281/2789|2051/2061|684/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1880A>G|p.Gln627Arg|2149/2657|1880/1890|627/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1167A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1167A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4463|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1465|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4464|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4483|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4549|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1167A>G||||||
22	31673119	.	A	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding|15/15|c.2054A>G|p.Lys685Arg|2284/2789|2054/2061|685/686||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding|15/15|c.1883A>G|p.Lys628Arg|2152/2657|1883/1890|628/629||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1773-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1710-1164A>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1710-1164A>G||||||,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976T>C|||||4460|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805A>G|||||1468|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030T>C|||||4461|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712T>C|||||4480|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684T>C|||||4546|,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|10/11|c.1035-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|15/15|c.1773-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|14/14|c.1710-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|4/4|n.318-1164A>G||||||
22	31674324	.	C	G	.	.	ANN=G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding|11/12|c.1076C>G|p.Ser359Cys|1206/2863|1076/1179|359/392||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding|16/16|c.1814C>G|p.Ser605Cys|1928/3670|1814/1917|605/638||,G|missense_variant|MODERATE|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding|15/15|c.1751C>G|p.Ser584Cys|2066/3462|1751/1854|584/617||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|16/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|8/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|14/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|10/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|11/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|9/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|15/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|13/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000331728|protein_coding|12/16|c.1814C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|7/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|13/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|9/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|10/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|8/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|14/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|12/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|11/15|c.1751C>G||||||,G|sequence_feature|LOW|LIMK2|ENSG00000182541|domain:Protein_kinase|ENST00000333611|protein_coding|15/15|c.1751C>G||||||,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000340552|protein_coding||c.*2291C>G|||||700|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding||c.*976G>C|||||3255|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000406516|protein_coding||c.*2159C>G|||||700|,G|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000482270|retained_intron||n.*805C>G|||||2673|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.*3030G>C|||||3256|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding||c.*712G>C|||||3275|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.*2684G>C|||||3341|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding||c.*606G>C|||||4602|,G|non_coding_exon_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript|5/5|n.359C>G||||||
22	31679110	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|6/6|c.752C>G|p.Thr251Ser|936/2467|752/792|251/263||,C|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|4/4|c.515C>G|p.Thr172Ser|566/750|515/555|172/184||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.752C>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.752C>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.515C>G||||||,C|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.515C>G||||||,C|3_prime_UTR_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|5/5|c.*151C>G|||||151|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000444929|protein_coding||c.*1309G>C|||||3053|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000331728|protein_coding||c.*2031G>C|||||3044|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000333611|protein_coding||c.*2169G>C|||||3390|,C|downstream_gene_variant|MODIFIER|LIMK2|ENSG00000182541|transcript|ENST00000467301|processed_transcript||n.*607G>C|||||4538|,C|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|3/3|n.1500C>G||||||,C|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|4/4|n.1239C>G||||||
22	31685256	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|5/5|c.632G>C|p.Arg211Thr|767/999|632/705|211/234||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|6/6|c.587+45G>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000215912|protein_coding|5/6|c.587+45G>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|4/4|c.350+45G>C||||||,G|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Cytoplasmic|ENST00000487265|protein_coding|3/4|c.350+45G>C||||||,G|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1C>G|||||3229|,G|downstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding||c.*578G>C|||||371|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|5/5|c.587+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|2/2|n.1335+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/4|c.508+229G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|3/3|n.1074+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|3/3|c.350+45G>C||||||
22	31685636	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|4/4|c.425G>A|p.Arg142His|569/578|425/434|142/143||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|4/6|c.357G>A|p.Ala119Ala|541/2467|357/792|119/263||,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|4/5|c.357G>A|p.Ala119Ala|547/2374|357/522|119/173||,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|2/4|c.120G>A|p.Ala40Ala|171/750|120/555|40/184||,T|synonymous_variant|LOW|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|4/5|c.357G>A|p.Ala119Ala|492/999|357/705|119/234||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.357G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.357G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1C>T|||||2849|,T|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron|1/3|n.1105G>A||||||,T|non_coding_exon_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron|2/4|n.844G>A||||||
22	31687065	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|3/6|c.193G>A|p.Gly65Ser|377/2467|193/792|65/263||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|3/5|c.193G>A|p.Gly65Ser|383/2374|193/522|65/173||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|3/5|c.193G>A|p.Gly65Ser|328/999|193/705|65/234||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|3/4|c.193G>A|p.Gly65Ser|337/578|193/434|65/143||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|1/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|3/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|2/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000215912|protein_coding|4/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|3/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000215912|protein_coding|2/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|1/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|3/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000215912|protein_coding|2/6|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|1/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000441972|protein_coding|4/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000441972|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000441972|protein_coding|1/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|1/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|topological_domain:Extracellular|ENST00000402249|protein_coding|4/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|disulfide_bond|ENST00000402249|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|3/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|2/5|c.193G>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|domain:Kringle|ENST00000402249|protein_coding|1/5|c.193G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1C>T|||||1420|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1G>A|||||325|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1G>A|||||353|,T|intron_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/3|c.70+1196G>A||||||
22	31688288	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/6|c.43C>T|p.Leu15Phe|227/2467|43/792|15/263||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/5|c.43C>T|p.Leu15Phe|233/2374|43/522|15/173||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/4|c.43C>T|p.Leu15Phe|94/750|43/555|15/184||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/5|c.43C>T|p.Leu15Phe|178/999|43/705|15/234||,A|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/4|c.43C>T|p.Leu15Phe|187/578|43/434|15/143||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000215912|protein_coding|1/6|c.43C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000441972|protein_coding|1/5|c.43C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000487265|protein_coding|1/4|c.43C>T||||||,A|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000402249|protein_coding|1/5|c.43C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>A|||||197|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>T|||||1548|,A|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>T|||||1576|
22	31688312	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000215912|protein_coding|1/6|c.19C>A|p.Gln7Lys|203/2467|19/792|7/263||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000441972|protein_coding|1/5|c.19C>A|p.Gln7Lys|209/2374|19/522|7/173||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000487265|protein_coding|1/4|c.19C>A|p.Gln7Lys|70/750|19/555|7/184||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000402249|protein_coding|1/5|c.19C>A|p.Gln7Lys|154/999|19/705|7/234||,T|missense_variant|MODERATE|PIK3IP1|ENSG00000100100|transcript|ENST00000443175|protein_coding|1/4|c.19C>A|p.Gln7Lys|163/578|19/434|7/143||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000215912|protein_coding|1/6|c.19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000441972|protein_coding|1/5|c.19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000487265|protein_coding|1/4|c.19C>A||||||,T|sequence_feature|LOW|PIK3IP1|ENSG00000100100|signal_peptide|ENST00000402249|protein_coding|1/5|c.19C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense||n.-1G>T|||||173|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000480654|retained_intron||n.-1C>A|||||1572|,T|upstream_gene_variant|MODIFIER|PIK3IP1|ENSG00000100100|transcript|ENST00000493034|retained_intron||n.-1C>A|||||1600|
22	31722884	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.2057G>A|p.Gly686Glu|2687/3781|2057/2064|686/687||,T|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1919G>A|p.Gly640Glu|2549/3638|1919/1926|640/641||,T|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*378G>A|||||378|,T|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10770C>T||||||
22	31722886	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|5/5|c.2055A>C|p.Glu685Asp|2685/3781|2055/2064|685/687||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|4/4|c.1917A>C|p.Glu639Asp|2547/3638|1917/1926|639/641||,G|3_prime_UTR_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|5/5|c.*376A>C|||||376|,G|intron_variant|MODIFIER|RP3-400N23.6|ENSG00000228839|transcript|ENST00000440456|antisense|1/1|n.201-10768T>G||||||
22	31740390	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1199A>T|p.Tyr400Phe|1829/3781|1199/2064|400/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1199A>T|p.Tyr400Phe|1829/3638|1199/1926|400/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1199A>T|p.Tyr400Phe|1829/3711|1199/1614|400/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1199A>T|p.Tyr400Phe|1373/2516|1199/1614|400/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000266269|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|1/4|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000351933|protein_coding|1/4|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000405309|protein_coding|1/5|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|1/3|c.1199A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_3|ENST00000215919|protein_coding|1/3|c.1199A>T||||||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>A|||||2485|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>T|||||1119|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>T|||||813|
22	31740564	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.1025C>T|p.Pro342Leu|1655/3781|1025/2064|342/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.1025C>T|p.Pro342Leu|1655/3638|1025/1926|342/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.1025C>T|p.Pro342Leu|1655/3711|1025/1614|342/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.1025C>T|p.Pro342Leu|1199/2516|1025/1614|342/537||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454G>A|||||2311|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1C>T|||||1293|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1C>T|||||987|
22	31740676	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.913A>T|p.Asn305Tyr|1543/3781|913/2064|305/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.913A>T|p.Asn305Tyr|1543/3638|913/1926|305/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.913A>T|p.Asn305Tyr|1543/3711|913/1614|305/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.913A>T|p.Asn305Tyr|1087/2516|913/1614|305/537||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000266269|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000266269|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000351933|protein_coding|1/4|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000351933|protein_coding|1/4|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000405309|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000405309|protein_coding|1/5|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|helix|ENST00000215919|protein_coding|1/3|c.913A>T||||||,A|sequence_feature|LOW|PATZ1|ENSG00000100105|zinc_finger_region:C2H2-type_1|ENST00000215919|protein_coding|1/3|c.913A>T||||||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>A|||||2199|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>T|||||1405|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>T|||||1099|
22	31740957	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.632A>G|p.Glu211Gly|1262/3781|632/2064|211/687||,C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.632A>G|p.Glu211Gly|1262/3638|632/1926|211/641||,C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.632A>G|p.Glu211Gly|1262/3711|632/1614|211/537||,C|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.632A>G|p.Glu211Gly|806/2516|632/1614|211/537||,C|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>C|||||1918|,C|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>G|||||1686|,C|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>G|||||1380|
22	31740963	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.626A>T|p.Glu209Val|1256/3781|626/2064|209/687||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.626A>T|p.Glu209Val|1256/3638|626/1926|209/641||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.626A>T|p.Glu209Val|1256/3711|626/1614|209/537||,A|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.626A>T|p.Glu209Val|800/2516|626/1614|209/537||,A|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454T>A|||||1912|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1A>T|||||1692|,A|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1A>T|||||1386|
22	31741023	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000266269|protein_coding|1/5|c.566T>C|p.Met189Thr|1196/3781|566/2064|189/687||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000351933|protein_coding|1/4|c.566T>C|p.Met189Thr|1196/3638|566/1926|189/641||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000405309|protein_coding|1/5|c.566T>C|p.Met189Thr|1196/3711|566/1614|189/537||,G|missense_variant|MODERATE|PATZ1|ENSG00000100105|transcript|ENST00000215919|protein_coding|1/3|c.566T>C|p.Met189Thr|740/2516|566/1614|189/537||,G|upstream_gene_variant|MODIFIER|AC005003.1|ENSG00000213888|transcript|ENST00000504184|protein_coding||c.-454A>G|||||1852|,G|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000494109|retained_intron||n.-1T>C|||||1752|,G|upstream_gene_variant|MODIFIER|PATZ1|ENSG00000100105|transcript|ENST00000465287|retained_intron||n.-1T>C|||||1446|
22	31816256	.	A	C	.	.	ANN=C|missense_variant|MODERATE|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/9|c.427A>C|p.Asn143His|588/1746|427/1104|143/367||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.427A>C||||||,C|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.427A>C||||||,C|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*59A>C|||||9233|,C|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*59A>C||||||,C|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/7|n.494A>C||||||
22	31816404	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DRG1|ENSG00000185721|transcript|ENST00000331457|protein_coding|5/9|c.575C>T|p.Thr192Ile|736/1746|575/1104|192/367||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|3/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|6/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|7/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|4/9|c.575C>T||||||,T|sequence_feature|LOW|DRG1|ENSG00000185721|domain:OBG-type_G|ENST00000331457|protein_coding|5/9|c.575C>T||||||,T|3_prime_UTR_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*207C>T|||||9381|,T|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000416465|nonsense_mediated_decay|4/6|n.*207C>T||||||,T|non_coding_exon_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000433341|processed_transcript|5/7|n.642C>T||||||
22	31836042	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|19/19|c.2782G>A|p.Val928Met|2857/3544|2782/2958|928/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|17/17|c.2260G>A|p.Val754Met|2418/3111|2260/2436|754/811||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|19/19|c.2782G>A|p.Val928Met|3006/3695|2782/2958|928/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|17/17|c.2710G>A|p.Val904Met|2737/3420|2710/2886|904/961||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|11/11|c.1747G>A|p.Val583Met|1757/2151|1747/1923|583/640||,T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1G>A|||||149|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284G>A|||||1747|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542G>A|||||1979|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619G>A|||||4382|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718G>A|||||4576|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+12874C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|9/9|n.2173G>A||||||
22	31836842	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|18/19|c.2564C>T|p.Pro855Leu|2639/3544|2564/2958|855/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|16/17|c.2042C>T|p.Pro681Leu|2200/3111|2042/2436|681/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|18/19|c.2564C>T|p.Pro855Leu|2788/3695|2564/2958|855/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|16/17|c.2492C>T|p.Pro831Leu|2519/3420|2492/2886|831/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|10/11|c.1529C>T|p.Pro510Leu|1539/2151|1529/1923|510/640||,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||949|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.*284C>T|||||947|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542C>T|||||1179|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||3582|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||3776|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+13674G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|8/9|n.1955C>T||||||
22	31837960	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|17/19|c.2351G>A|p.Arg784Gln|2426/3544|2351/2958|784/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|15/17|c.1829G>A|p.Arg610Gln|1987/3111|1829/2436|610/811||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|17/19|c.2351G>A|p.Arg784Gln|2575/3695|2351/2958|784/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|15/17|c.2279G>A|p.Arg760Gln|2306/3420|2279/2886|760/961||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|9/11|c.1316G>A|p.Arg439Gln|1326/2151|1316/1923|439/640||,T|3_prime_UTR_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*406G>A|||||5007|,T|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1G>A|||||2067|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542G>A|||||61|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619G>A|||||2464|,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718G>A|||||2658|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14792C>T||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|7/9|n.1742G>A||||||,T|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*406G>A||||||
22	31838014	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|17/19|c.2297C>T|p.Ser766Leu|2372/3544|2297/2958|766/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|15/17|c.1775C>T|p.Ser592Leu|1933/3111|1775/2436|592/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|17/19|c.2297C>T|p.Ser766Leu|2521/3695|2297/2958|766/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|15/17|c.2225C>T|p.Ser742Leu|2252/3420|2225/2886|742/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|9/11|c.1262C>T|p.Ser421Leu|1272/2151|1262/1923|421/640||,A|3_prime_UTR_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*352C>T|||||4953|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000441289|processed_transcript||n.-1C>T|||||2121|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000475437|retained_intron||n.*542C>T|||||7|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.*619C>T|||||2410|,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.*718C>T|||||2604|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+14846G>A||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|7/9|n.1688C>T||||||,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay|7/7|n.*352C>T||||||
22	31845490	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|12/19|c.1612C>T|p.Pro538Ser|1687/3544|1612/2958|538/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|10/17|c.1087C>T|p.Pro363Ser|1245/3111|1087/2436|363/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|12/19|c.1612C>T|p.Pro538Ser|1836/3695|1612/2958|538/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|10/17|c.1540C>T|p.Pro514Ser|1567/3420|1540/2886|514/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding|4/11|c.577C>T|p.Pro193Ser|587/2151|577/1923|193/640||,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000445424|nonsense_mediated_decay||n.-3C>T|||||121|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000487671|retained_intron||n.-1C>T|||||14|,A|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense||n.-1G>A|||||4747|,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+22322G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding|3/6|c.379-96C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000495101|retained_intron|2/9|n.1000C>T||||||
22	31854531	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|7/19|c.893C>T|p.Pro298Leu|968/3544|893/2958|298/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|5/17|c.404C>T|p.Pro135Leu|562/3111|404/2436|135/811||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|7/19|c.893C>T|p.Pro298Leu|1117/3695|893/2958|298/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|6/17|c.893C>T|p.Pro298Leu|920/3420|893/2886|298/961||,A|upstream_gene_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense||n.-1G>A|||||3119|,A|upstream_gene_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense||n.-1G>A|||||3119|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000382180|protein_coding||c.-11C>T|||||2548|,A|upstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000418321|protein_coding||c.-1C>T|||||3337|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+31363G>A||||||,A|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.173+4122G>A||||||
22	31858975	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|6/19|c.730G>A|p.Glu244Lys|805/3544|730/2958|244/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|6/19|c.730G>A|p.Glu244Lys|954/3695|730/2958|244/985||,T|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|5/17|c.730G>A|p.Glu244Lys|757/3420|730/2886|244/961||,T|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding||c.*688G>A|||||711|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|1/1|n.141-741C>T||||||,T|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|1/1|n.141-741C>T||||||,T|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+35807C>T||||||,T|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.299-4339G>A||||||,T|intron_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|1/1|n.174-741C>T||||||
22	31859852	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.400C>T|p.Arg134Trp|475/3544|400/2958|134/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.400C>T|p.Arg134Trp|624/3695|400/2958|134/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.400C>T|p.Arg134Trp|427/3420|400/2886|134/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.400C>T|p.Arg134Trp|522/688|400/566|134/187||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>T|||||4416|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>T|||||4416|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36684G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4309C>T||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.277G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.277G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.310G>A||||||
22	31859854	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000330125|protein_coding|5/19|c.398C>T|p.Ser133Phe|473/3544|398/2958|133/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397525|protein_coding|5/19|c.398C>T|p.Ser133Phe|622/3695|398/2958|133/985||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397523|protein_coding|4/17|c.398C>T|p.Ser133Phe|425/3420|398/2886|133/961||,A|missense_variant|MODERATE|EIF4ENIF1|ENSG00000184708|transcript|ENST00000423097|protein_coding|5/5|c.398C>T|p.Ser133Phe|520/688|398/566|133/187||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397518|protein_coding||c.*251C>T|||||4414|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000397520|protein_coding||c.*374C>T|||||4414|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay|2/3|n.164+36686G>A||||||,A|intron_variant|MODIFIER|EIF4ENIF1|ENSG00000184708|transcript|ENST00000344710|protein_coding|4/16|c.298+4307C>T||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.8|ENSG00000224623|transcript|ENST00000439588|antisense|2/2|n.279G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000483736|antisense|2/2|n.279G>A||||||,A|non_coding_exon_variant|MODIFIER|RP11-247I13.11|ENSG00000240591|transcript|ENST00000464523|antisense|2/2|n.312G>A||||||
22	31924798	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|3/33|c.215G>A|p.Arg72His|320/4002|215/3729|72/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/31|c.215G>A|p.Arg72His|608/4086|215/3564|72/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|3/32|c.215G>A|p.Arg72His|608/4162|215/3636|72/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000444859|protein_coding|4/4|c.215G>A|p.Arg72His|426/449|215/238|72/78||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|1/5|c.68G>A|p.Arg23His|68/448|68/448|23/148||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron||n.-1G>A|||||8|,A|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay||n.*169G>A|||||72|,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-18049G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465646|processed_transcript|3/3|n.341G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465437|processed_transcript|4/4|n.505G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000411518|nonsense_mediated_decay|3/5|n.215G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|3/31|n.300G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|2/19|n.215G>A||||||
22	31924843	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|3/33|c.260G>T|p.Arg87Leu|365/4002|260/3729|87/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|3/31|c.260G>T|p.Arg87Leu|653/4086|260/3564|87/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|3/32|c.260G>T|p.Arg87Leu|653/4162|260/3636|87/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|1/5|c.113G>T|p.Arg38Leu|113/448|113/448|38/148||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DRG1|ENSG00000185721|transcript|ENST00000548143|nonsense_mediated_decay||n.*169G>T|||||117|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000444859|protein_coding||c.*449G>T|||||22|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|2/28|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|2/30|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|2/28|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|2/30|c.93-18004G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465646|processed_transcript|3/3|n.386G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000465437|processed_transcript|4/4|n.550G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000411518|nonsense_mediated_decay|3/5|n.260G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|3/31|n.345G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|2/19|n.260G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|1/4|n.38G>T||||||
22	31946287	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|6/33|c.497G>A|p.Arg166His|602/4002|497/3729|166/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|4/31|c.251G>A|p.Arg84His|644/4005|251/3483|84/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|5/31|c.425G>A|p.Arg142His|818/4086|425/3564|142/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|6/32|c.497G>A|p.Arg166His|890/4162|497/3636|166/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|4/31|c.251G>A|p.Arg84His|377/3739|251/3483|84/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|3/5|c.239G>A|p.Arg80His|239/448|239/448|80/148||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|5/33|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400288|protein_coding|6/33|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|4/31|c.425G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000540643|protein_coding|5/31|c.425G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|5/32|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000432498|protein_coding|6/32|c.497G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|3/31|c.251G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_1|ENST00000400289|protein_coding|4/31|c.251G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+3330G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+3330G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|6/31|n.582G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|5/19|n.497G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|4/4|n.275G>A||||||
22	31946325	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|6/33|c.535G>A|p.Glu179Lys|640/4002|535/3729|179/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|4/31|c.289G>A|p.Glu97Lys|682/4005|289/3483|97/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|5/31|c.463G>A|p.Glu155Lys|856/4086|463/3564|155/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|6/32|c.535G>A|p.Glu179Lys|928/4162|535/3636|179/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|4/31|c.289G>A|p.Glu97Lys|415/3739|289/3483|97/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|3/5|c.277G>A|p.Glu93Lys|277/448|277/448|93/148||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|7/33|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|6/33|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|6/31|c.463G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|5/31|c.463G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|7/32|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|6/32|c.535G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|5/31|c.289G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|4/31|c.289G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.203+3368G>A||||||,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.203+3368G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|6/31|n.620G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|5/19|n.535G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000486708|retained_intron|4/4|n.313G>A||||||
22	31952937	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|7/33|c.554A>G|p.Gln185Arg|659/4002|554/3729|185/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|5/31|c.308A>G|p.Gln103Arg|701/4005|308/3483|103/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|6/31|c.482A>G|p.Gln161Arg|875/4086|482/3564|161/1187||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|7/32|c.554A>G|p.Gln185Arg|947/4162|554/3636|185/1211||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|5/31|c.308A>G|p.Gln103Arg|434/3739|308/3483|103/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000450787|protein_coding|4/5|c.296A>G|p.Gln99Arg|296/448|296/448|99/148||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|7/33|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400288|protein_coding|6/33|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|6/31|c.482A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000540643|protein_coding|5/31|c.482A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|7/32|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000432498|protein_coding|6/32|c.554A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|5/31|c.308A>G||||||,G|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_2|ENST00000400289|protein_coding|4/31|c.308A>G||||||,G|upstream_gene_variant|MODIFIER|RP11-247I13.3|ENSG00000214093|transcript|ENST00000445477|processed_pseudogene||n.-1A>G|||||2532|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|3/28|c.204-4339A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|3/28|c.204-4339A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|7/31|n.639A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|6/19|n.554A>G||||||
22	31969137	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/33|c.859C>T|p.Arg287Trp|964/4002|859/3729|287/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/29|c.400C>T|p.Arg134Trp|793/3788|400/3096|134/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/31|c.613C>T|p.Arg205Trp|1006/4005|613/3483|205/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/31|c.787C>T|p.Arg263Trp|1180/4086|787/3564|263/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/32|c.859C>T|p.Arg287Trp|1252/4162|859/3636|287/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/29|c.400C>T|p.Arg134Trp|681/3579|400/3270|134/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/31|c.613C>T|p.Arg205Trp|739/3739|613/3483|205/1160||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400288|protein_coding|9/33|c.859C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000414585|protein_coding|5/29|c.400C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000540643|protein_coding|8/31|c.787C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000432498|protein_coding|9/32|c.859C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400289|protein_coding|7/31|c.613C>T||||||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.-2C>T|||||23|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1C>T|||||4797|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/31|n.944C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/19|n.859C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/4|n.389C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/5|n.175C>T||||||
22	31969182	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|9/33|c.904G>A|p.Val302Met|1009/4002|904/3729|302/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|5/29|c.445G>A|p.Val149Met|838/3788|445/3096|149/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|7/31|c.658G>A|p.Val220Met|1051/4005|658/3483|220/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|8/31|c.832G>A|p.Val278Met|1225/4086|832/3564|278/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|9/32|c.904G>A|p.Val302Met|1297/4162|904/3636|302/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|5/29|c.445G>A|p.Val149Met|726/3579|445/3270|149/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|7/31|c.658G>A|p.Val220Met|784/3739|658/3483|220/1160||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400288|protein_coding|9/33|c.904G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000414585|protein_coding|5/29|c.445G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000540643|protein_coding|8/31|c.832G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000432498|protein_coding|9/32|c.904G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_3|ENST00000400289|protein_coding|7/31|c.658G>A||||||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>A|||||4752|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|9/31|n.989G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/19|n.904G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|1/4|n.434G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|1/5|n.220G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|1/21|n.22G>A||||||
22	31971258	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.964T>C|p.Tyr322His|1069/4002|964/3729|322/1242||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.505T>C|p.Tyr169His|898/3788|505/3096|169/1031||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.718T>C|p.Tyr240His|1111/4005|718/3483|240/1160||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.892T>C|p.Tyr298His|1285/4086|892/3564|298/1187||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.964T>C|p.Tyr322His|1357/4162|964/3636|322/1211||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.505T>C|p.Tyr169His|786/3579|505/3270|169/1089||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.718T>C|p.Tyr240His|844/3739|718/3483|240/1160||,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1T>C|||||2676|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1T>C|||||4816|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1T>C|||||5000|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2058T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1049T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.494T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.280T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.82T>C||||||
22	31971282	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.988T>C|p.Trp330Arg|1093/4002|988/3729|330/1242||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.529T>C|p.Trp177Arg|922/3788|529/3096|177/1031||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.742T>C|p.Trp248Arg|1135/4005|742/3483|248/1160||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.916T>C|p.Trp306Arg|1309/4086|916/3564|306/1187||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.988T>C|p.Trp330Arg|1381/4162|988/3636|330/1211||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.529T>C|p.Trp177Arg|810/3579|529/3270|177/1089||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.742T>C|p.Trp248Arg|868/3739|742/3483|248/1160||,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1T>C|||||2652|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1T>C|||||4792|,C|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1T>C|||||4976|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2082T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1073T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.518T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.304T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.106T>C||||||
22	31971351	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.1057C>T|p.Arg353Trp|1162/4002|1057/3729|353/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.598C>T|p.Arg200Trp|991/3788|598/3096|200/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.811C>T|p.Arg271Trp|1204/4005|811/3483|271/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.985C>T|p.Arg329Trp|1378/4086|985/3564|329/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.1057C>T|p.Arg353Trp|1450/4162|1057/3636|353/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.598C>T|p.Arg200Trp|879/3579|598/3270|200/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.811C>T|p.Arg271Trp|937/3739|811/3483|271/1160||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|10/33|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|11/33|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|6/29|c.598C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|7/29|c.598C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|9/31|c.985C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|10/31|c.985C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|10/32|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|11/32|c.1057C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|8/31|c.811C>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|9/31|c.811C>T||||||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1C>T|||||2583|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1C>T|||||4723|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1C>T|||||4907|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2151C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1142C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.587C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.373C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.175C>T||||||
22	31971355	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|10/33|c.1061G>A|p.Arg354His|1166/4002|1061/3729|354/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|6/29|c.602G>A|p.Arg201His|995/3788|602/3096|201/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|8/31|c.815G>A|p.Arg272His|1208/4005|815/3483|272/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|9/31|c.989G>A|p.Arg330His|1382/4086|989/3564|330/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|10/32|c.1061G>A|p.Arg354His|1454/4162|1061/3636|354/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|6/29|c.602G>A|p.Arg201His|883/3579|602/3270|201/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|8/31|c.815G>A|p.Arg272His|941/3739|815/3483|272/1160||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|10/33|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400288|protein_coding|11/33|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|6/29|c.602G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000414585|protein_coding|7/29|c.602G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|9/31|c.989G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000540643|protein_coding|10/31|c.989G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|10/32|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000432498|protein_coding|11/32|c.1061G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|8/31|c.815G>A||||||,A|sequence_feature|LOW|SFI1|ENSG00000198089|repeat:HAT_4|ENST00000400289|protein_coding|9/31|c.815G>A||||||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.-1G>A|||||2579|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1G>A|||||4719|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1G>A|||||4903|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+2155G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|10/31|n.1146G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|2/4|n.591G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|2/5|n.377G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|2/21|n.179G>A||||||
22	31974397	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|11/33|c.1114C>A|p.Gln372Lys|1219/4002|1114/3729|372/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|7/29|c.655C>A|p.Gln219Lys|1048/3788|655/3096|219/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|9/31|c.868C>A|p.Gln290Lys|1261/4005|868/3483|290/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/31|c.1042C>A|p.Gln348Lys|1435/4086|1042/3564|348/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/32|c.1114C>A|p.Gln372Lys|1507/4162|1114/3636|372/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|7/29|c.655C>A|p.Gln219Lys|936/3579|655/3270|219/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|9/31|c.868C>A|p.Gln290Lys|994/3739|868/3483|290/1160||,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript||n.-1C>A|||||1677|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.-1C>A|||||1861|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+5197C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|11/31|n.1199C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/4|n.644C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|3/5|n.430C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|3/21|n.232C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/3|n.464C>A||||||
22	31976283	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|12/33|c.1181A>G|p.Asp394Gly|1286/4002|1181/3729|394/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|8/29|c.722A>G|p.Asp241Gly|1115/3788|722/3096|241/1031||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|10/31|c.935A>G|p.Asp312Gly|1328/4005|935/3483|312/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|8/29|c.722A>G|p.Asp241Gly|1003/3579|722/3270|241/1089||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|10/31|c.935A>G|p.Asp312Gly|1061/3739|935/3483|312/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|1/16|c.26A>G|p.Asp9Gly|26/1817|26/1817|9/604||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.-3A>G|||||3609|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|10/30|c.1083+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|11/31|c.1155+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.922+7083A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|3/3|n.685+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|1/2|n.505+1845A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|12/31|n.1266A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron|4/5|n.497A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|4/21|n.299A>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|1/2|n.210A>G||||||
22	31979911	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|13/33|c.1299G>T|p.Lys433Asn|1404/4002|1299/3729|433/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|9/29|c.840G>T|p.Lys280Asn|1233/3788|840/3096|280/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|11/31|c.1053G>T|p.Lys351Asn|1446/4005|1053/3483|351/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|11/31|c.1134G>T|p.Lys378Asn|1527/4086|1134/3564|378/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|12/32|c.1206G>T|p.Lys402Asn|1599/4162|1206/3636|402/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|9/29|c.840G>T|p.Lys280Asn|1121/3579|840/3270|280/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|11/31|c.1053G>T|p.Lys351Asn|1179/3739|1053/3483|351/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|2/16|c.144G>T|p.Lys48Asn|144/1817|144/1817|48/604||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding|1/3|c.18G>T|p.Lys6Asn|20/719|18/171|6/56||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron||n.*567G>T|||||48|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.923-5522G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|13/31|n.1384G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron|4/4|n.736G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|5/21|n.417G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|2/3|n.556G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|2/2|n.328G>T||||||
22	31979937	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|13/33|c.1325A>T|p.His442Leu|1430/4002|1325/3729|442/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|9/29|c.866A>T|p.His289Leu|1259/3788|866/3096|289/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|11/31|c.1079A>T|p.His360Leu|1472/4005|1079/3483|360/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|11/31|c.1160A>T|p.His387Leu|1553/4086|1160/3564|387/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|12/32|c.1232A>T|p.His411Leu|1625/4162|1232/3636|411/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|9/29|c.866A>T|p.His289Leu|1147/3579|866/3270|289/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|11/31|c.1079A>T|p.His360Leu|1205/3739|1079/3483|360/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|2/16|c.170A>T|p.His57Leu|170/1817|170/1817|57/604||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding|1/3|c.44A>T|p.His15Leu|46/719|44/171|15/56||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476010|retained_intron||n.*745A>T|||||17|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000484806|retained_intron||n.*567A>T|||||74|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|8/18|n.923-5496A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|13/31|n.1410A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|5/21|n.443A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron|2/3|n.582A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000467357|processed_transcript|2/2|n.354A>T||||||
22	31985498	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1479G>T|p.Trp493Cys|1584/4002|1479/3729|493/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1020G>T|p.Trp340Cys|1413/3788|1020/3096|340/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1233G>T|p.Trp411Cys|1626/4005|1233/3483|411/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1314G>T|p.Trp438Cys|1707/4086|1314/3564|438/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1386G>T|p.Trp462Cys|1779/4162|1386/3636|462/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1020G>T|p.Trp340Cys|1301/3579|1020/3270|340/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1233G>T|p.Trp411Cys|1359/3739|1233/3483|411/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.324G>T|p.Trp108Cys|324/1817|324/1817|108/604||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400288|protein_coding|15/33|c.1479G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000414585|protein_coding|11/29|c.1020G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000540643|protein_coding|13/31|c.1314G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000432498|protein_coding|14/32|c.1386G>T||||||,T|sequence_feature|LOW|SFI1|ENSG00000198089|interacting_region:Interaction_with_CETN2|ENST00000400289|protein_coding|13/31|c.1233G>T||||||,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662G>T|||||4386|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173G>T|||||1600|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1564G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.988G>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.597G>T||||||
22	31985517	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1498C>T|p.Arg500Cys|1603/4002|1498/3729|500/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1039C>T|p.Arg347Cys|1432/3788|1039/3096|347/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1252C>T|p.Arg418Cys|1645/4005|1252/3483|418/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1333C>T|p.Arg445Cys|1726/4086|1333/3564|445/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1405C>T|p.Arg469Cys|1798/4162|1405/3636|469/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1039C>T|p.Arg347Cys|1320/3579|1039/3270|347/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1252C>T|p.Arg418Cys|1378/3739|1252/3483|418/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.343C>T|p.Arg115Cys|343/1817|343/1817|115/604||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662C>T|||||4405|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173C>T|||||1619|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1583C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.1007C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.616C>T||||||
22	31985522	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1503C>A|p.His501Gln|1608/4002|1503/3729|501/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1044C>A|p.His348Gln|1437/3788|1044/3096|348/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1257C>A|p.His419Gln|1650/4005|1257/3483|419/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1338C>A|p.His446Gln|1731/4086|1338/3564|446/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1410C>A|p.His470Gln|1803/4162|1410/3636|470/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1044C>A|p.His348Gln|1325/3579|1044/3270|348/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1257C>A|p.His419Gln|1383/3739|1257/3483|419/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.348C>A|p.His116Gln|348/1817|348/1817|116/604||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662C>A|||||4410|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173C>A|||||1624|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1588C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.1012C>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.621C>A||||||
22	31985554	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|15/33|c.1535G>A|p.Arg512His|1640/4002|1535/3729|512/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|11/29|c.1076G>A|p.Arg359His|1469/3788|1076/3096|359/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|13/31|c.1289G>A|p.Arg430His|1682/4005|1289/3483|430/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|13/31|c.1370G>A|p.Arg457His|1763/4086|1370/3564|457/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|14/32|c.1442G>A|p.Arg481His|1835/4162|1442/3636|481/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|11/29|c.1076G>A|p.Arg359His|1357/3579|1076/3270|359/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|13/31|c.1289G>A|p.Arg430His|1415/3739|1289/3483|430/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|4/16|c.380G>A|p.Arg127His|380/1817|380/1817|127/604||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000478887|retained_intron||n.*662G>A|||||4442|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000425671|protein_coding||c.*173G>A|||||1656|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|15/31|n.1620G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|9/19|n.1044G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|7/21|n.653G>A||||||
22	31998612	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|17/33|c.1646G>A|p.Arg549Gln|1751/4002|1646/3729|549/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|13/29|c.1187G>A|p.Arg396Gln|1580/3788|1187/3096|396/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|15/31|c.1400G>A|p.Arg467Gln|1793/4005|1400/3483|467/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|15/31|c.1481G>A|p.Arg494Gln|1874/4086|1481/3564|494/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|16/32|c.1553G>A|p.Arg518Gln|1946/4162|1553/3636|518/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|13/29|c.1187G>A|p.Arg396Gln|1468/3579|1187/3270|396/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|15/31|c.1400G>A|p.Arg467Gln|1526/3739|1400/3483|467/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|6/16|c.491G>A|p.Arg164Gln|491/1817|491/1817|164/604||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.-1G>A|||||1688|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1G>A|||||1943|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|17/31|n.1731G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|11/19|n.1155G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/21|n.764G>A||||||
22	32000307	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|19/33|c.1894C>T|p.Arg632Trp|1999/4002|1894/3729|632/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|15/29|c.1435C>T|p.Arg479Trp|1828/3788|1435/3096|479/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|17/31|c.1648C>T|p.Arg550Trp|2041/4005|1648/3483|550/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|17/31|c.1729C>T|p.Arg577Trp|2122/4086|1729/3564|577/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|18/32|c.1801C>T|p.Arg601Trp|2194/4162|1801/3636|601/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|15/29|c.1435C>T|p.Arg479Trp|1716/3579|1435/3270|479/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|17/31|c.1648C>T|p.Arg550Trp|1774/3739|1648/3483|550/1160||,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.-1C>T|||||248|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>T|||||3330|,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|12/18|n.*220+502C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.923+1536C>T||||||,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|7/15|c.726+502C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|18/31|n.1903C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|1/3|n.8C>T||||||
22	32002351	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|21/33|c.2092C>G|p.Arg698Gly|2197/4002|2092/3729|698/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|17/29|c.1633C>G|p.Arg545Gly|2026/3788|1633/3096|545/1031||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|19/31|c.1846C>G|p.Arg616Gly|2239/4005|1846/3483|616/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|19/31|c.1927C>G|p.Arg643Gly|2320/4086|1927/3564|643/1187||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|20/32|c.1999C>G|p.Arg667Gly|2392/4162|1999/3636|667/1211||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|17/29|c.1633C>G|p.Arg545Gly|1914/3579|1633/3270|545/1089||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|19/31|c.1846C>G|p.Arg616Gly|1972/3739|1846/3483|616/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|9/16|c.841C>G|p.Arg281Gly|841/1817|841/1817|281/604||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|14/19|n.*335C>G|||||3724|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.-1C>G|||||1286|,G|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|9/20|n.924-1572C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|19/31|n.3483C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|14/19|n.*335C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron|3/3|n.206C>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|3/6|n.218C>G||||||
22	32003939	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|22/33|c.2174G>A|p.Arg725Gln|2279/4002|2174/3729|725/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|18/29|c.1715G>A|p.Arg572Gln|2108/3788|1715/3096|572/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|20/31|c.1928G>A|p.Arg643Gln|2321/4005|1928/3483|643/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|20/31|c.2009G>A|p.Arg670Gln|2402/4086|2009/3564|670/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|21/32|c.2081G>A|p.Arg694Gln|2474/4162|2081/3636|694/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|18/29|c.1715G>A|p.Arg572Gln|1996/3579|1715/3270|572/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|20/31|c.1928G>A|p.Arg643Gln|2054/3739|1928/3483|643/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|10/16|c.923G>A|p.Arg308Gln|923/1817|923/1817|308/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/19|n.*417G>A|||||5312|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1G>A|||||3813|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1G>A|||||4820|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567G>A|||||1227|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|20/31|n.3565G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|15/19|n.*417G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|10/21|n.940G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|4/6|n.300G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|1/3|n.303G>A||||||
22	32007137	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2263C>T|p.Arg755Trp|2368/4002|2263/3729|755/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1804C>T|p.Arg602Trp|2197/3788|1804/3096|602/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2017C>T|p.Arg673Trp|2410/4005|2017/3483|673/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2098C>T|p.Arg700Trp|2491/4086|2098/3564|700/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2170C>T|p.Arg724Trp|2563/4162|2170/3636|724/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1804C>T|p.Arg602Trp|2085/3579|1804/3270|602/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2017C>T|p.Arg673Trp|2143/3739|2017/3483|673/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1012C>T|p.Arg338Trp|1012/1817|1012/1817|338/604||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*506C>T|||||8510|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1C>T|||||615|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1C>T|||||1622|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1C>T|||||2684|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1C>T|||||3016|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1C>T|||||3220|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1C>T|||||3235|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567C>T|||||4425|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3654C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*506C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1029C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.389C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.392C>T||||||
22	32007153	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2279G>A|p.Arg760His|2384/4002|2279/3729|760/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1820G>A|p.Arg607His|2213/3788|1820/3096|607/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2033G>A|p.Arg678His|2426/4005|2033/3483|678/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2114G>A|p.Arg705His|2507/4086|2114/3564|705/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2186G>A|p.Arg729His|2579/4162|2186/3636|729/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1820G>A|p.Arg607His|2101/3579|1820/3270|607/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2033G>A|p.Arg678His|2159/3739|2033/3483|678/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1028G>A|p.Arg343His|1028/1817|1028/1817|343/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*522G>A|||||8526|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1G>A|||||599|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1G>A|||||1606|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1G>A|||||2668|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1G>A|||||3000|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1G>A|||||3204|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1G>A|||||3219|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567G>A|||||4441|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3670G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*522G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1045G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.405G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.408G>A||||||
22	32007264	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|23/33|c.2390A>T|p.His797Leu|2495/4002|2390/3729|797/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|19/29|c.1931A>T|p.His644Leu|2324/3788|1931/3096|644/1031||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|21/31|c.2144A>T|p.His715Leu|2537/4005|2144/3483|715/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|21/31|c.2225A>T|p.His742Leu|2618/4086|2225/3564|742/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|22/32|c.2297A>T|p.His766Leu|2690/4162|2297/3636|766/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|19/29|c.1931A>T|p.His644Leu|2212/3579|1931/3270|644/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|21/31|c.2144A>T|p.His715Leu|2270/3739|2144/3483|715/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|11/16|c.1139A>T|p.His380Leu|1139/1817|1139/1817|380/604||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*633A>T|||||8637|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.-1A>T|||||488|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1A>T|||||1495|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1A>T|||||2557|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1A>T|||||2889|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1A>T|||||3093|,T|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1A>T|||||3108|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000488883|retained_intron||n.*567A>T|||||4552|,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|21/31|n.3781A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|16/19|n.*633A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|11/21|n.1156A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript|5/6|n.516A>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron|2/3|n.519A>T||||||
22	32007810	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|24/33|c.2474G>A|p.Arg825His|2579/4002|2474/3729|825/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|20/29|c.2015G>A|p.Arg672His|2408/3788|2015/3096|672/1031||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|22/31|c.2228G>A|p.Arg743His|2621/4005|2228/3483|743/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|22/31|c.2309G>A|p.Arg770His|2702/4086|2309/3564|770/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|23/32|c.2381G>A|p.Arg794His|2774/4162|2381/3636|794/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|20/29|c.2015G>A|p.Arg672His|2296/3579|2015/3270|672/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|22/31|c.2228G>A|p.Arg743His|2354/3739|2228/3483|743/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|12/16|c.1223G>A|p.Arg408His|1223/1817|1223/1817|408/604||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/19|n.*717G>A|||||9183|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.-1G>A|||||949|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1G>A|||||2011|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1G>A|||||2343|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1G>A|||||2547|,A|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1G>A|||||2562|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545G>A|||||55|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580G>A|||||23|,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|22/31|n.3865G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay|17/19|n.*717G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|12/21|n.1240G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript|1/2|n.59G>A||||||
22	32009455	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|26/33|c.2681T>G|p.Leu894Arg|2786/4002|2681/3729|894/1242||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|22/29|c.2222T>G|p.Leu741Arg|2615/3788|2222/3096|741/1031||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|24/31|c.2435T>G|p.Leu812Arg|2828/4005|2435/3483|812/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|24/31|c.2516T>G|p.Leu839Arg|2909/4086|2516/3564|839/1187||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|25/32|c.2588T>G|p.Leu863Arg|2981/4162|2588/3636|863/1211||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|22/29|c.2222T>G|p.Leu741Arg|2503/3579|2222/3270|741/1089||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|24/31|c.2435T>G|p.Leu812Arg|2561/3739|2435/3483|812/1160||,G|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding|14/16|c.1430T>G|p.Leu477Arg|1430/1817|1430/1817|477/604||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.-1T>G|||||366|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.-1T>G|||||698|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.-1T>G|||||902|,G|upstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.-1T>G|||||917|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200T>G|||||16|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545T>G|||||1700|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580T>G|||||1668|,G|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519T>G|||||1027|,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|24/31|n.4072T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|14/21|n.1447T>G||||||,G|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron|2/3|n.560T>G||||||
22	32011225	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|29/33|c.3260T>C|p.Leu1087Pro|3365/4002|3260/3729|1087/1242||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|25/29|c.2801T>C|p.Leu934Pro|3194/3788|2801/3096|934/1031||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|27/31|c.3014T>C|p.Leu1005Pro|3407/4005|3014/3483|1005/1160||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|27/31|c.3095T>C|p.Leu1032Pro|3488/4086|3095/3564|1032/1187||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|28/32|c.3167T>C|p.Leu1056Pro|3560/4162|3167/3636|1056/1211||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|25/29|c.2801T>C|p.Leu934Pro|3082/3579|2801/3270|934/1089||,C|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|27/31|c.3014T>C|p.Leu1005Pro|3140/3739|3014/3483|1005/1160||,C|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*559T>C|||||1750|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454A>G|||||3864|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200T>C|||||1786|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817T>C|||||379|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000466991|processed_transcript||n.*545T>C|||||3470|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000491973|retained_intron||n.*580T>C|||||3438|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000463436|processed_transcript||n.*519T>C|||||2797|,C|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735T>C|||||1524|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548A>G|||||3252|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534A>G|||||3252|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184A>G|||||3272|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558A>G|||||3276|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378A>G|||||3320|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018A>G|||||3375|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088A>G|||||3738|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227A>G|||||3864|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760A>G|||||4205|,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|27/31|n.4651T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|17/21|n.*559T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|3/6|n.285T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|2/6|n.886T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|1/3|n.869T>C||||||,C|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|1/5|n.854T>C||||||
22	32014129	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/33|c.3541C>T|p.Arg1181Cys|3646/4002|3541/3729|1181/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/31|c.3295C>T|p.Arg1099Cys|3688/4005|3295/3483|1099/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/31|c.3376C>T|p.Arg1126Cys|3769/4086|3376/3564|1126/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/32|c.3448C>T|p.Arg1150Cys|3841/4162|3448/3636|1150/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/29|c.3082C>T|p.Arg1028Cys|3363/3579|3082/3270|1028/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/31|c.3295C>T|p.Arg1099Cys|3421/3739|3295/3483|1099/1160||,T|synonymous_variant|LOW|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/29|c.3078C>T|p.Cys1026Cys|3471/3788|3078/3096|1026/1031||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*840C>T|||||4654|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||960|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4690|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3283|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4428|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||348|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||348|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||368|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||372|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||416|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||471|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||834|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||960|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1301|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2410|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2435|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2911|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3719|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.459-69C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/31|n.4932C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*840C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/6|n.1167C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2615C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/5|n.1135C>T||||||
22	32014160	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|32/33|c.3572C>T|p.Pro1191Leu|3677/4002|3572/3729|1191/1242||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|30/31|c.3326C>T|p.Pro1109Leu|3719/4005|3326/3483|1109/1160||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|30/31|c.3407C>T|p.Pro1136Leu|3800/4086|3407/3564|1136/1187||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|31/32|c.3479C>T|p.Pro1160Leu|3872/4162|3479/3636|1160/1211||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|28/29|c.3113C>T|p.Pro1038Leu|3394/3579|3113/3270|1038/1089||,T|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|30/31|c.3326C>T|p.Pro1109Leu|3452/3739|3326/3483|1109/1160||,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|28/29|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*871C>T|||||4685|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454G>A|||||929|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200C>T|||||4721|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||3314|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735C>T|||||4459|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548G>A|||||317|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534G>A|||||317|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184G>A|||||337|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558G>A|||||341|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378G>A|||||385|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018G>A|||||440|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088G>A|||||803|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227G>A|||||929|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760G>A|||||1270|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||2379|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||2404|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||2880|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||3688|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|4/5|n.459-38C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|30/31|n.4963C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|20/21|n.*871C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|5/6|n.1198C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2646C>T||||||,T|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|4/5|n.1166C>T||||||
22	32014366	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding|33/33|c.3691G>A|p.Val1231Ile|3796/4002|3691/3729|1231/1242||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding|31/31|c.3445G>A|p.Val1149Ile|3838/4005|3445/3483|1149/1160||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding|31/31|c.3526G>A|p.Val1176Ile|3919/4086|3526/3564|1176/1187||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding|32/32|c.3598G>A|p.Val1200Ile|3991/4162|3598/3636|1200/1211||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding|29/29|c.3232G>A|p.Val1078Ile|3513/3579|3232/3270|1078/1089||,A|missense_variant|MODERATE|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding|31/31|c.3445G>A|p.Val1149Ile|3571/3739|3445/3483|1149/1160||,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding|29/29|c.*132G>A|||||219|,A|3_prime_UTR_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*990G>A|||||4891|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding||c.*1454C>T|||||723|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000524296|nonsense_mediated_decay||n.*1200G>A|||||4927|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817G>A|||||3520|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000495107|retained_intron||n.*735G>A|||||4665|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding||c.*1548C>T|||||111|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron||n.*2534C>T|||||111|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay||n.*184C>T|||||131|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding||c.*1558C>T|||||135|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron||n.*2378C>T|||||179|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding||c.*1018C>T|||||234|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding||c.*1088C>T|||||597|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding||c.*1227C>T|||||723|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron||n.*1760C>T|||||1064|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056C>T|||||2173|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692C>T|||||2198|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||3482|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron|31/31|n.5082G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay|21/21|n.*990G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript|6/6|n.540G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron|6/6|n.1317G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron|3/3|n.2852G>A||||||,A|non_coding_exon_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron|5/5|n.1285G>A||||||
22	32015765	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|8/8|c.1063G>A|p.Val355Met|1287/1963|1063/1230|355/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|8/8|c.961G>A|p.Val321Met|1381/2669|961/1128|321/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|9/9|c.961G>A|p.Val321Met|1391/2655|961/1128|321/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|8/8|c.919G>A|p.Val307Met|921/1723|919/1086|307/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|8/8|c.1060G>A|p.Val354Met|1060/1736|1060/1227|354/408||,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*812G>A|||||28392|,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|7/7|c.*11G>A|||||11|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||1193|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||1228|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||1333|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000417682|protein_coding||c.*1817C>T|||||4919|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||1231|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||1232|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||1231|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript||n.*1056G>A|||||774|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript||n.*692G>A|||||799|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||1275|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||2083|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||3905|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||3905|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|7/7|n.1246G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|7/7|n.*812G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|6/6|n.1158G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|6/6|n.1425G>A||||||
22	32016621	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|7/8|c.923C>T|p.Thr308Met|1147/1963|923/1230|308/409||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|7/8|c.821C>T|p.Thr274Met|1241/2669|821/1128|274/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|8/9|c.821C>T|p.Thr274Met|1251/2655|821/1128|274/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|7/8|c.920C>T|p.Thr307Met|920/1736|920/1227|307/408||,A|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*672C>T|||||27536|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834G>A|||||2049|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029G>A|||||2084|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551G>A|||||2189|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485G>A|||||2087|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019G>A|||||2088|,A|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453G>A|||||2087|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015C>T|||||419|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722C>T|||||1227|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460C>T|||||3049|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609C>T|||||3049|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/6|c.742+361C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/7|c.815-36C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|6/7|n.1106C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|6/7|n.*672C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|5/6|n.1018C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|5/6|n.1285C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|6/6|n.974C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|5/5|n.635C>T||||||
22	32016996	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|6/8|c.830G>A|p.Arg277Gln|1054/1963|830/1230|277/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|6/8|c.728G>A|p.Arg243Gln|1148/2669|728/1128|243/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|7/9|c.728G>A|p.Arg243Gln|1158/2655|728/1128|243/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|6/7|c.728G>A|p.Arg243Gln|957/2194|728/789|243/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|6/8|c.800G>A|p.Arg267Gln|802/1723|800/1086|267/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|6/8|c.827G>A|p.Arg276Gln|827/1736|827/1227|276/408||,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/7|n.*579G>A|||||27161|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||2424|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||2459|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||2564|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||2462|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||2463|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||2462|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding||c.*1015G>A|||||44|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||852|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2674|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4812|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4868|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|5/7|n.1013G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|5/7|n.*579G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|4/6|n.925G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.1192G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|5/6|n.881G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|4/5|n.542G>A||||||
22	32017655	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.538G>A|p.Val180Ile|762/1963|538/1230|180/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.436G>A|p.Val146Ile|856/2669|436/1128|146/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.436G>A|p.Val146Ile|866/2655|436/1128|146/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.436G>A|p.Val146Ile|665/2194|436/789|146/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.508G>A|p.Val170Ile|510/1723|508/1086|170/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/8|c.538G>A|p.Val180Ile|538/1736|538/1227|180/408||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.436G>A|p.Val146Ile|767/1015|436/684|146/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*287G>A|||||26502|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||3083|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||3118|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||3223|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||3121|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||3122|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||3121|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||193|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||2015|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||2015|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4153|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4209|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.545G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*287G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.442G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.533G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.589G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.250G>A||||||
22	32017778	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|4/8|c.415G>A|p.Val139Ile|639/1963|415/1230|139/409||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|4/8|c.313G>A|p.Val105Ile|733/2669|313/1128|105/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|5/9|c.313G>A|p.Val105Ile|743/2655|313/1128|105/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|4/7|c.313G>A|p.Val105Ile|542/2194|313/789|105/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|4/8|c.385G>A|p.Val129Ile|387/1723|385/1086|129/361||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|4/8|c.415G>A|p.Val139Ile|415/1736|415/1227|139/408||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|4/6|c.313G>A|p.Val105Ile|644/1015|313/684|105/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*164G>A|||||26379|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400288|protein_coding||c.*3834C>T|||||3206|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000414585|protein_coding||c.*3489C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443326|protein_coding||c.*3876C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000540643|protein_coding||c.*3957C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000432498|protein_coding||c.*4029C>T|||||3241|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000443011|protein_coding||c.*3551C>T|||||3346|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000400289|protein_coding||c.*3609C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000382162|retained_intron||n.*5250C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000452250|nonsense_mediated_decay||n.*1468C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000474741|processed_transcript||n.*708C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000476577|retained_intron||n.*1485C>T|||||3244|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000464333|retained_intron||n.*3019C>T|||||3245|,T|downstream_gene_variant|MODIFIER|SFI1|ENSG00000198089|transcript|ENST00000357852|retained_intron||n.*1453C>T|||||3244|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding||c.*722G>A|||||70|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding||c.*460G>A|||||1892|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding||c.*609G>A|||||1892|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||4030|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||4086|,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|4/7|n.422G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|3/7|n.*164G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|3/6|n.319G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|4/6|n.410G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|3/6|n.466G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|2/5|n.127G>A||||||
22	32019696	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.193C>T|p.Arg65Trp|613/2669|193/1128|65/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.193C>T|p.Arg65Trp|623/2655|193/1128|65/375||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.193C>T|p.Arg65Trp|422/2194|193/789|65/262||,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.193C>T|p.Arg65Trp|524/1015|193/684|65/227||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.193C>T|p.Arg65Trp|672/722|193/243|65/80||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.193C>T|p.Arg65Trp|434/460|193/219|65/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.193C>T|p.Arg65Trp|583/609|193/219|65/72||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>T|||||2112|,A|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>T|||||2168|,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1825C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1825C>T||||||,A|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1825C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.199C>T||||||,A|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.346C>T||||||
22	32019741	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.148G>A|p.Val50Ile|568/2669|148/1128|50/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.148G>A|p.Val50Ile|578/2655|148/1128|50/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.148G>A|p.Val50Ile|377/2194|148/789|50/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.148G>A|p.Val50Ile|479/1015|148/684|50/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.148G>A|p.Val50Ile|627/722|148/243|50/80||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.148G>A|p.Val50Ile|389/460|148/219|50/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.148G>A|p.Val50Ile|538/609|148/219|50/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||2067|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||2123|,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1870G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1870G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1870G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.154G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.301G>A||||||
22	32019806	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.83G>A|p.Arg28Gln|503/2669|83/1128|28/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.83G>A|p.Arg28Gln|513/2655|83/1128|28/375||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.83G>A|p.Arg28Gln|312/2194|83/789|28/262||,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.83G>A|p.Arg28Gln|414/1015|83/684|28/227||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.83G>A|p.Arg28Gln|562/722|83/243|28/80||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.83G>A|p.Arg28Gln|324/460|83/219|28/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.83G>A|p.Arg28Gln|473/609|83/219|28/72||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837G>A|||||2002|,T|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655G>A|||||2058|,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1935G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1935G>A||||||,T|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1935G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.89G>A||||||,T|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.236G>A||||||
22	32019824	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000382151|protein_coding|3/8|c.65C>G|p.Pro22Arg|485/2669|65/1128|22/375||,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000266095|protein_coding|4/9|c.65C>G|p.Pro22Arg|495/2655|65/1128|22/375||,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000397500|protein_coding|3/7|c.65C>G|p.Pro22Arg|294/2194|65/789|22/262||,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000422020|protein_coding|3/6|c.65C>G|p.Pro22Arg|396/1015|65/684|22/227||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000442379|protein_coding|2/3|c.65C>G|p.Pro22Arg|544/722|65/243|22/80||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000431201|protein_coding|3/3|c.65C>G|p.Pro22Arg|306/460|65/219|22/72||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PISD|ENSG00000241878|transcript|ENST00000429683|protein_coding|4/4|c.65C>G|p.Pro22Arg|455/609|65/219|22/72||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000486675|processed_transcript||n.*837C>G|||||1984|,C|downstream_gene_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000479851|processed_transcript||n.*655C>G|||||2040|,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000439502|protein_coding|3/7|c.322-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000460723|retained_intron|3/6|n.329-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000437808|nonsense_mediated_decay|2/6|n.*71-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000435900|protein_coding|3/7|c.292-1953C>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000336566|protein_coding|3/7|c.322-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000474017|retained_intron|3/5|n.317-1953C>G||||||,C|intron_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000491342|processed_transcript|1/4|n.34-1953C>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000473770|retained_intron|2/6|n.71C>G||||||,C|non_coding_exon_variant|MODIFIER|PISD|ENSG00000241878|transcript|ENST00000478893|processed_transcript|2/6|n.218C>G||||||
22	32161029	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|4/42|c.262A>G|p.Asn88Asp|332/5363|262/4785|88/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|5/40|c.262A>G|p.Asn88Asp|340/4843|262/4512|88/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|5/22|c.262A>G|p.Asn88Asp|433/2300|262/1995|88/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|5/22|c.262A>G|p.Asn88Asp|418/2395|262/1680|88/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|5/42|c.262A>G|p.Asn88Asp|404/5405|262/4746|88/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|5/40|c.262A>G|p.Asn88Asp|404/5128|262/3690|88/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|5/42|c.262A>G|p.Asn88Asp|404/5410|262/4659|88/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|5/42|c.262A>G|p.Asn88Asp|404/5378|262/4719|88/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|4/41|c.262A>G|p.Asn88Asp|322/5212|262/4659|88/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|4/41|c.262A>G|p.Asn88Asp|321/5307|262/4719|88/1572||,G|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/8|n.*200A>G|||||6494|,G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding||c.-2A>G|||||3809|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000456178|nonsense_mediated_decay|5/8|n.*200A>G||||||
22	32179926	.	A	C	.	.	ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|8/42|c.517A>C|p.Ile173Leu|587/5363|517/4785|173/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|9/40|c.517A>C|p.Ile173Leu|595/4843|517/4512|173/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|8/22|c.433A>C|p.Ile145Leu|604/2300|433/1995|145/664||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|9/22|c.517A>C|p.Ile173Leu|673/2395|517/1680|173/559||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|9/42|c.517A>C|p.Ile173Leu|659/5405|517/4746|173/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|9/40|c.517A>C|p.Ile173Leu|659/5128|517/3690|173/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|9/42|c.517A>C|p.Ile173Leu|659/5410|517/4659|173/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|9/42|c.517A>C|p.Ile173Leu|659/5378|517/4719|173/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|8/41|c.517A>C|p.Ile173Leu|577/5212|517/4659|173/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|8/41|c.517A>C|p.Ile173Leu|576/5307|517/4719|173/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000458532|protein_coding|3/3|c.115A>C|p.Ile39Leu|116/434|115/180|39/59||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.-1A>C|||||885|
22	32188774	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|11/42|c.738C>G|p.His246Gln|808/5363|738/4785|246/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|12/40|c.738C>G|p.His246Gln|816/4843|738/4512|246/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|11/22|c.654C>G|p.His218Gln|825/2300|654/1995|218/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|12/22|c.738C>G|p.His246Gln|894/2395|738/1680|246/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|12/42|c.738C>G|p.His246Gln|880/5405|738/4746|246/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|12/40|c.738C>G|p.His246Gln|880/5128|738/3690|246/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|12/42|c.738C>G|p.His246Gln|880/5410|738/4659|246/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|12/42|c.738C>G|p.His246Gln|880/5378|738/4719|246/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|11/41|c.738C>G|p.His246Gln|798/5212|738/4659|246/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|11/41|c.738C>G|p.His246Gln|797/5307|738/4719|246/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|3/6|n.397C>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|1/5|n.102C>G||||||
22	32188784	.	T	G	.	.	ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|11/42|c.748T>G|p.Phe250Val|818/5363|748/4785|250/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|12/40|c.748T>G|p.Phe250Val|826/4843|748/4512|250/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|11/22|c.664T>G|p.Phe222Val|835/2300|664/1995|222/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|12/22|c.748T>G|p.Phe250Val|904/2395|748/1680|250/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|12/42|c.748T>G|p.Phe250Val|890/5405|748/4746|250/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|12/40|c.748T>G|p.Phe250Val|890/5128|748/3690|250/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|12/42|c.748T>G|p.Phe250Val|890/5410|748/4659|250/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|12/42|c.748T>G|p.Phe250Val|890/5378|748/4719|250/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|11/41|c.748T>G|p.Phe250Val|808/5212|748/4659|250/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|11/41|c.748T>G|p.Phe250Val|807/5307|748/4719|250/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron|3/6|n.407T>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron|1/5|n.112T>G||||||
22	32200849	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|16/42|c.1165C>T|p.Arg389Cys|1235/5363|1165/4785|389/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|17/40|c.1165C>T|p.Arg389Cys|1243/4843|1165/4512|389/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|16/22|c.1081C>T|p.Arg361Cys|1252/2300|1081/1995|361/664||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|17/22|c.1165C>T|p.Arg389Cys|1321/2395|1165/1680|389/559||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|17/42|c.1165C>T|p.Arg389Cys|1307/5405|1165/4746|389/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|17/40|c.1165C>T|p.Arg389Cys|1307/5128|1165/3690|389/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|17/42|c.1165C>T|p.Arg389Cys|1307/5410|1165/4659|389/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|17/42|c.1165C>T|p.Arg389Cys|1307/5378|1165/4719|389/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|16/41|c.1165C>T|p.Arg389Cys|1225/5212|1165/4659|389/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|16/41|c.1165C>T|p.Arg389Cys|1224/5307|1165/4719|389/1572||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000469974|retained_intron||n.*640C>T|||||2125|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000473802|retained_intron||n.*503C>T|||||644|
22	32205630	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|18/42|c.1321A>G|p.Thr441Ala|1391/5363|1321/4785|441/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|19/40|c.1321A>G|p.Thr441Ala|1399/4843|1321/4512|441/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|18/22|c.1237A>G|p.Thr413Ala|1408/2300|1237/1995|413/664||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|19/22|c.1321A>G|p.Thr441Ala|1477/2395|1321/1680|441/559||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|19/42|c.1321A>G|p.Thr441Ala|1463/5405|1321/4746|441/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|19/40|c.1321A>G|p.Thr441Ala|1463/5128|1321/3690|441/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|19/42|c.1321A>G|p.Thr441Ala|1463/5410|1321/4659|441/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|19/42|c.1321A>G|p.Thr441Ala|1463/5378|1321/4719|441/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|18/41|c.1321A>G|p.Thr441Ala|1381/5212|1321/4659|441/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|18/41|c.1321A>G|p.Thr441Ala|1380/5307|1321/4719|441/1572||
22	32206512	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|19/42|c.1330G>A|p.Gly444Arg|1400/5363|1330/4785|444/1594||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|20/40|c.1330G>A|p.Gly444Arg|1408/4843|1330/4512|444/1503||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|19/22|c.1246G>A|p.Gly416Arg|1417/2300|1246/1995|416/664||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|20/22|c.1330G>A|p.Gly444Arg|1486/2395|1330/1680|444/559||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|20/42|c.1330G>A|p.Gly444Arg|1472/5405|1330/4746|444/1581||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|20/40|c.1330G>A|p.Gly444Arg|1472/5128|1330/3690|444/1229||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|20/42|c.1330G>A|p.Gly444Arg|1472/5410|1330/4659|444/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|20/42|c.1330G>A|p.Gly444Arg|1472/5378|1330/4719|444/1572||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|19/41|c.1330G>A|p.Gly444Arg|1390/5212|1330/4659|444/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|19/41|c.1330G>A|p.Gly444Arg|1389/5307|1330/4719|444/1572||
22	32211004	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|20/42|c.1472G>C|p.Ser491Thr|1542/5363|1472/4785|491/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|21/40|c.1472G>C|p.Ser491Thr|1550/4843|1472/4512|491/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|20/22|c.1388G>C|p.Ser463Thr|1559/2300|1388/1995|463/664||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400242|protein_coding|21/22|c.1472G>C|p.Ser491Thr|1628/2395|1472/1680|491/559||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|21/42|c.1472G>C|p.Ser491Thr|1614/5405|1472/4746|491/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|21/40|c.1472G>C|p.Ser491Thr|1614/5128|1472/3690|491/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|21/42|c.1472G>C|p.Ser491Thr|1614/5410|1472/4659|491/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|21/42|c.1472G>C|p.Ser491Thr|1614/5378|1472/4719|491/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|20/41|c.1472G>C|p.Ser491Thr|1532/5212|1472/4659|491/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|20/41|c.1472G>C|p.Ser491Thr|1531/5307|1472/4719|491/1572||,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay||n.-1G>C|||||4048|,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding||c.-2G>C|||||4146|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.*477C>G|||||1361|
22	32217539	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|22/42|c.1922C>T|p.Ala641Val|1992/5363|1922/4785|641/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|23/42|c.1922C>T|p.Ala641Val|2064/5405|1922/4746|641/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|23/42|c.1922C>T|p.Ala641Val|2064/5410|1922/4659|641/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|23/42|c.1922C>T|p.Ala641Val|2064/5378|1922/4719|641/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|22/41|c.1922C>T|p.Ala641Val|1982/5212|1922/4659|641/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|22/41|c.1922C>T|p.Ala641Val|1981/5307|1922/4719|641/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|2/21|c.113C>T|p.Ala38Val|114/3450|113/2937|38/978||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.-1G>A|||||4062|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+2328C>T||||||
22	32217608	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|22/42|c.1991A>G|p.His664Arg|2061/5363|1991/4785|664/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|23/42|c.1991A>G|p.His664Arg|2133/5405|1991/4746|664/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|23/42|c.1991A>G|p.His664Arg|2133/5410|1991/4659|664/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|23/42|c.1991A>G|p.His664Arg|2133/5378|1991/4719|664/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|22/41|c.1991A>G|p.His664Arg|2051/5212|1991/4659|664/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|22/41|c.1991A>G|p.His664Arg|2050/5307|1991/4719|664/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|2/21|c.182A>G|p.His61Arg|183/3450|182/2937|61/978||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CTA-440B3.1|ENSG00000236132|transcript|ENST00000429025|processed_pseudogene||n.-1T>C|||||4131|,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+2397A>G||||||
22	32218692	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2020C>T|p.Arg674Cys|2090/5363|2020/4785|674/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2020C>T|p.Arg674Cys|2162/5405|2020/4746|674/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2020C>T|p.Arg674Cys|2162/5410|2020/4659|674/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2020C>T|p.Arg674Cys|2162/5378|2020/4719|674/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2020C>T|p.Arg674Cys|2080/5212|2020/4659|674/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2020C>T|p.Arg674Cys|2079/5307|2020/4719|674/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.211C>T|p.Arg71Cys|212/3450|211/2937|71/978||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3481C>T||||||
22	32218727	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2055C>A|p.Phe685Leu|2125/5363|2055/4785|685/1594||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2055C>A|p.Phe685Leu|2197/5405|2055/4746|685/1581||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2055C>A|p.Phe685Leu|2197/5410|2055/4659|685/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2055C>A|p.Phe685Leu|2197/5378|2055/4719|685/1572||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2055C>A|p.Phe685Leu|2115/5212|2055/4659|685/1552||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2055C>A|p.Phe685Leu|2114/5307|2055/4719|685/1572||,A|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.246C>A|p.Phe82Leu|247/3450|246/2937|82/978||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3516C>A||||||
22	32218744	.	T	C	.	.	ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2072T>C|p.Leu691Pro|2142/5363|2072/4785|691/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2072T>C|p.Leu691Pro|2214/5405|2072/4746|691/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2072T>C|p.Leu691Pro|2214/5410|2072/4659|691/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2072T>C|p.Leu691Pro|2214/5378|2072/4719|691/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2072T>C|p.Leu691Pro|2132/5212|2072/4659|691/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2072T>C|p.Leu691Pro|2131/5307|2072/4719|691/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.263T>C|p.Leu88Pro|264/3450|263/2937|88/978||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3533T>C||||||
22	32218747	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|23/42|c.2075C>T|p.Ser692Phe|2145/5363|2075/4785|692/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|24/42|c.2075C>T|p.Ser692Phe|2217/5405|2075/4746|692/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|24/42|c.2075C>T|p.Ser692Phe|2217/5410|2075/4659|692/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|24/42|c.2075C>T|p.Ser692Phe|2217/5378|2075/4719|692/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|23/41|c.2075C>T|p.Ser692Phe|2135/5212|2075/4659|692/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|23/41|c.2075C>T|p.Ser692Phe|2134/5307|2075/4719|692/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|3/21|c.266C>T|p.Ser89Phe|267/3450|266/2937|89/978||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|22/39|c.1870+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|21/21|c.1786+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|22/39|c.1870+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|1/18|n.160+3536C>T||||||
22	32229931	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/42|c.2135C>T|p.Ser712Phe|2205/5363|2135/4785|712/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|23/40|c.1901C>T|p.Ser634Phe|1979/4843|1901/4512|634/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding|22/22|c.1817C>T|p.Ser606Phe|1988/2300|1817/1995|606/664||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|25/42|c.2135C>T|p.Ser712Phe|2277/5405|2135/4746|712/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|23/40|c.1901C>T|p.Ser634Phe|2043/5128|1901/3690|634/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|25/42|c.2135C>T|p.Ser712Phe|2277/5410|2135/4659|712/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/42|c.2135C>T|p.Ser712Phe|2277/5378|2135/4719|712/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|24/41|c.2135C>T|p.Ser712Phe|2195/5212|2135/4659|712/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/41|c.2135C>T|p.Ser712Phe|2194/5307|2135/4719|712/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|4/21|c.326C>T|p.Ser109Phe|327/3450|326/2937|109/978||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>T|||||3293|,T|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.-1C>T|||||2903|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|2/19|n.191C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/3|n.97C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/5|n.80C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|1/2|n.28C>T||||||
22	32232979	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|24/40|c.1958C>T|p.Pro653Leu|2036/4843|1958/4512|653/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|26/42|c.2192C>T|p.Pro731Leu|2334/5405|2192/4746|731/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|24/40|c.1958C>T|p.Pro653Leu|2100/5128|1958/3690|653/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|26/42|c.2192C>T|p.Pro731Leu|2334/5410|2192/4659|731/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|25/41|c.2192C>T|p.Pro731Leu|2252/5212|2192/4659|731/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|5/21|c.383C>T|p.Pro128Leu|384/3450|383/2937|128/978||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|24/41|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|25/41|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|24/40|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|1/4|n.116-6C>T||||||,T|upstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.-1C>T|||||245|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||2736|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript|1/2|n.133-101C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|3/19|n.248C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron|2/2|n.85C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|1/4|n.146C>T||||||
22	32234798	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|26/42|c.2455C>T|p.Pro819Ser|2525/5363|2455/4785|819/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|25/40|c.2248C>T|p.Pro750Ser|2326/4843|2248/4512|750/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|27/42|c.2482C>T|p.Pro828Ser|2624/5405|2482/4746|828/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|25/40|c.2248C>T|p.Pro750Ser|2390/5128|2248/3690|750/1229||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|27/42|c.2482C>T|p.Pro828Ser|2624/5410|2482/4659|828/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|27/42|c.2455C>T|p.Pro819Ser|2597/5378|2455/4719|819/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|26/41|c.2482C>T|p.Pro828Ser|2542/5212|2482/4659|828/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|26/41|c.2455C>T|p.Pro819Ser|2514/5307|2455/4719|819/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|6/21|c.673C>T|p.Pro225Ser|674/3450|673/2937|225/978||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RNU6-201P|ENSG00000252909|transcript|ENST00000517100|snRNA||n.*61C>T|||||1514|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000536766|protein_coding||c.*2166C>T|||||4555|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231C>T|||||91|,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494065|retained_intron||n.*414C>T|||||1490|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|4/19|n.538C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron|3/5|n.400C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron|2/4|n.436C>T||||||
22	32239669	.	G	C	.	.	ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|28/42|c.2645G>C|p.Ser882Thr|2715/5363|2645/4785|882/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|27/40|c.2438G>C|p.Ser813Thr|2516/4843|2438/4512|813/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|29/42|c.2672G>C|p.Ser891Thr|2814/5405|2672/4746|891/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|27/40|c.2438G>C|p.Ser813Thr|2580/5128|2438/3690|813/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|29/42|c.2672G>C|p.Ser891Thr|2814/5410|2672/4659|891/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|29/42|c.2645G>C|p.Ser882Thr|2787/5378|2645/4719|882/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|28/41|c.2672G>C|p.Ser891Thr|2732/5212|2672/4659|891/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|28/41|c.2645G>C|p.Ser882Thr|2704/5307|2645/4719|882/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|8/21|c.863G>C|p.Ser288Thr|864/3450|863/2937|288/978||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.-1G>C|||||3256|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000462414|processed_transcript||n.*231G>C|||||4962|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000471914|retained_intron||n.*569G>C|||||21|,C|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000490731|retained_intron||n.*602G>C|||||24|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|6/19|n.728G>C||||||
22	32253516	.	A	C	.	.	ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|31/42|c.3214A>C|p.Thr1072Pro|3284/5363|3214/4785|1072/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|30/40|c.3007A>C|p.Thr1003Pro|3085/4843|3007/4512|1003/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|32/42|c.3241A>C|p.Thr1081Pro|3383/5405|3241/4746|1081/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|30/40|c.3007A>C|p.Thr1003Pro|3149/5128|3007/3690|1003/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|32/42|c.3241A>C|p.Thr1081Pro|3383/5410|3241/4659|1081/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|32/42|c.3214A>C|p.Thr1072Pro|3356/5378|3214/4719|1072/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|31/41|c.3241A>C|p.Thr1081Pro|3301/5212|3241/4659|1081/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|31/41|c.3214A>C|p.Thr1072Pro|3273/5307|3214/4719|1072/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|11/21|c.1432A>C|p.Thr478Pro|1433/3450|1432/2937|478/978||WARNING_TRANSCRIPT_NO_START_CODON,C|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|2/12|c.-326A>C|||||15789|,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|9/19|n.1297A>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|2/6|n.115A>C||||||
22	32266603	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|33/42|c.3331A>G|p.Met1111Val|3401/5363|3331/4785|1111/1594||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|31/40|c.3058A>G|p.Met1020Val|3136/4843|3058/4512|1020/1503||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|33/42|c.3292A>G|p.Met1098Val|3434/5405|3292/4746|1098/1581||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|32/40|c.3124A>G|p.Met1042Val|3266/5128|3124/3690|1042/1229||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|34/42|c.3358A>G|p.Met1120Val|3500/5410|3358/4659|1120/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|33/42|c.3265A>G|p.Met1089Val|3407/5378|3265/4719|1089/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|33/41|c.3358A>G|p.Met1120Val|3418/5212|3358/4659|1120/1552||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|32/41|c.3265A>G|p.Met1089Val|3324/5307|3265/4719|1089/1572||,G|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|12/21|c.1483A>G|p.Met495Val|1484/3450|1483/2937|495/978||WARNING_TRANSCRIPT_NO_START_CODON,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|3/12|c.-275A>G||||||,G|5_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|3/12|c.-275A>G|||||2702|,G|upstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron||n.-1A>G|||||3357|,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|11/19|n.1414A>G||||||,G|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|3/6|n.166A>G||||||
22	32270378	.	T	C	.	.	ANN=C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|35/42|c.3656T>C|p.Ile1219Thr|3726/5363|3656/4785|1219/1594||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|33/40|c.3383T>C|p.Ile1128Thr|3461/4843|3383/4512|1128/1503||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|35/42|c.3617T>C|p.Ile1206Thr|3759/5405|3617/4746|1206/1581||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/40|c.3449T>C|p.Ile1150Thr|3591/5128|3449/3690|1150/1229||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|36/42|c.3683T>C|p.Ile1228Thr|3825/5410|3683/4659|1228/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|35/42|c.3590T>C|p.Ile1197Thr|3732/5378|3590/4719|1197/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|35/41|c.3683T>C|p.Ile1228Thr|3743/5212|3683/4659|1228/1552||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|34/41|c.3590T>C|p.Ile1197Thr|3649/5307|3590/4719|1197/1572||,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|14/21|c.1808T>C|p.Ile603Thr|1809/3450|1808/2937|603/978||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|5/12|c.134T>C|p.Ile45Thr|622/2052|134/1263|45/420||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3656T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3656T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3656T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3383T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3383T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3383T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3617T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3617T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3617T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3683T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3683T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3683T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3590T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3590T>C||||||,C|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3590T>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/19|n.1739T>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript|5/6|n.491T>C||||||,C|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|1/3|n.419T>C||||||
22	32272191	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|36/42|c.3718C>T|p.Arg1240Trp|3788/5363|3718/4785|1240/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|34/40|c.3445C>T|p.Arg1149Trp|3523/4843|3445/4512|1149/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|36/42|c.3679C>T|p.Arg1227Trp|3821/5405|3679/4746|1227/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|37/42|c.3745C>T|p.Arg1249Trp|3887/5410|3745/4659|1249/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|36/42|c.3652C>T|p.Arg1218Trp|3794/5378|3652/4719|1218/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|36/41|c.3745C>T|p.Arg1249Trp|3805/5212|3745/4659|1249/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|35/41|c.3652C>T|p.Arg1218Trp|3711/5307|3652/4719|1218/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|15/21|c.1870C>T|p.Arg624Trp|1871/3450|1870/2937|624/978||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|6/12|c.196C>T|p.Arg66Trp|684/2052|196/1263|66/420||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|35/42|c.3718C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|34/42|c.3718C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382112|protein_coding|36/42|c.3718C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|33/40|c.3445C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|32/40|c.3445C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000535622|protein_coding|34/40|c.3445C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|35/42|c.3679C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|34/42|c.3679C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000266091|protein_coding|36/42|c.3679C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|35/41|c.3745C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|34/41|c.3745C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000382111|protein_coding|36/41|c.3745C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|34/41|c.3652C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|33/41|c.3652C>T||||||,T|sequence_feature|LOW|DEPDC5|ENSG00000100150|domain:DEP|ENST00000400248|protein_coding|35/41|c.3652C>T||||||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750C>T|||||762|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|34/39|c.3462+1800C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|13/18|n.1752+1800C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|2/3|n.481C>T||||||
22	32275515	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|35/40|c.3467C>T|p.Pro1156Leu|3609/5128|3467/3690|1156/1229||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|37/42|c.3783C>T|p.Ala1261Ala|3853/5363|3783/4785|1261/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|35/40|c.3510C>T|p.Ala1170Ala|3588/4843|3510/4512|1170/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|37/42|c.3744C>T|p.Ala1248Ala|3886/5405|3744/4746|1248/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|38/42|c.3810C>T|p.Ala1270Ala|3952/5410|3810/4659|1270/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|37/42|c.3717C>T|p.Ala1239Ala|3859/5378|3717/4719|1239/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|37/41|c.3810C>T|p.Ala1270Ala|3870/5212|3810/4659|1270/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|36/41|c.3717C>T|p.Ala1239Ala|3776/5307|3717/4719|1239/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|16/21|c.1935C>T|p.Ala645Ala|1936/3450|1935/2937|645/978||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|7/12|c.261C>T|p.Ala87Ala|749/2052|261/1263|87/420||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750C>T|||||4086|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|14/19|n.1757C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|3/3|n.546C>T||||||
22	32275576	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|37/42|c.3844C>T|p.Arg1282Cys|3914/5363|3844/4785|1282/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|35/40|c.3571C>T|p.Arg1191Cys|3649/4843|3571/4512|1191/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|37/42|c.3805C>T|p.Arg1269Cys|3947/5405|3805/4746|1269/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|38/42|c.3871C>T|p.Arg1291Cys|4013/5410|3871/4659|1291/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|37/42|c.3778C>T|p.Arg1260Cys|3920/5378|3778/4719|1260/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|37/41|c.3871C>T|p.Arg1291Cys|3931/5212|3871/4659|1291/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|36/41|c.3778C>T|p.Arg1260Cys|3837/5307|3778/4719|1260/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|16/21|c.1996C>T|p.Arg666Cys|1997/3450|1996/2937|666/978||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|7/12|c.322C>T|p.Arg108Cys|810/2052|322/1263|108/420||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|35/40|c.3528C>T|p.Ser1176Ser|3670/5128|3528/3690|1176/1229||,T|downstream_gene_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000494060|processed_transcript||n.*750C>T|||||4147|,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|14/19|n.1818C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000479261|retained_intron|3/3|n.607C>T||||||
22	32297743	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|40/42|c.4364C>T|p.Thr1455Met|4434/5363|4364/4785|1455/1594||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|38/40|c.4091C>T|p.Thr1364Met|4169/4843|4091/4512|1364/1503||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|40/42|c.4325C>T|p.Thr1442Met|4467/5405|4325/4746|1442/1581||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|40/42|c.4298C>T|p.Thr1433Met|4440/5378|4298/4719|1433/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|39/41|c.4298C>T|p.Thr1433Met|4357/5307|4298/4719|1433/1572||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|19/21|c.2516C>T|p.Thr839Met|2517/3450|2516/2937|839/978||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|10/12|c.842C>T|p.Thr281Met|1330/2052|842/1263|281/420||,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|38/40|c.*358C>T|||||22005|,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|17/19|n.*358C>T|||||22005|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|40/41|c.4375+4104C>T||||||,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|39/40|c.4375+4104C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|17/19|n.*358C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/3|n.35C>T||||||
22	32302045	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000400246|protein_coding|41/42|c.4451C>T|p.Thr1484Met|4593/5410|4451/4659|1484/1552||,T|missense_variant|MODERATE|DEPDC5|ENSG00000100150|transcript|ENST00000382111|protein_coding|40/41|c.4451C>T|p.Thr1484Met|4511/5212|4451/4659|1484/1552||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000382112|protein_coding|41/42|c.4485C>T|p.His1495His|4555/5363|4485/4785|1495/1594||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000535622|protein_coding|39/40|c.4212C>T|p.His1404His|4290/4843|4212/4512|1404/1503||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000266091|protein_coding|41/42|c.4446C>T|p.His1482His|4588/5405|4446/4746|1482/1581||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400249|protein_coding|41/42|c.4419C>T|p.His1473His|4561/5378|4419/4719|1473/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000400248|protein_coding|40/41|c.4419C>T|p.His1473His|4478/5307|4419/4719|1473/1572||,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000433147|protein_coding|20/21|c.2637C>T|p.His879His|2638/3450|2637/2937|879/978||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|DEPDC5|ENSG00000100150|transcript|ENST00000539165|protein_coding|11/12|c.963C>T|p.His321His|1451/2052|963/1263|321/420||,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000382105|protein_coding|39/40|c.*479C>T|||||26307|,T|3_prime_UTR_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|18/19|n.*479C>T|||||26307|,T|intron_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000497340|processed_transcript|2/2|n.81-746C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|ENSG00000100150|transcript|ENST00000448753|nonsense_mediated_decay|18/19|n.*479C>T||||||
22	32333967	.	T	G	.	.	ANN=G|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.287A>C|p.Asn96Thr|437/941|287/684|96/227||,G|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.86A>C|p.Asn29Thr|253/1247|86/483|29/160||,G|splice_region_variant&intron_variant|LOW|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/2|n.413+8A>C||||||,G|splice_region_variant&intron_variant|LOW|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/1|n.466+8A>C||||||
22	32333988	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.266C>G|p.Pro89Arg|416/941|266/684|89/227||,C|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.65C>G|p.Pro22Arg|232/1247|65/483|22/160||,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.400C>G||||||,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.453C>G||||||
22	32334021	.	T	A	.	.	ANN=A|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.233A>T|p.His78Leu|383/941|233/684|78/227||,A|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.32A>T|p.His11Leu|199/1247|32/483|11/160||,A|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.367A>T||||||,A|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.420A>T||||||
22	32334058	.	T	C	.	.	ANN=C|missense_variant|MODERATE|C22orf24|ENSG00000128254|transcript|ENST00000543051|protein_coding|1/2|c.196A>G|p.Asn66Asp|346/941|196/684|66/227||,C|5_prime_UTR_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000248984|protein_coding|2/3|c.-6A>G|||||6|,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000486651|processed_transcript|2/3|n.330A>G||||||,C|non_coding_exon_variant|MODIFIER|C22orf24|ENSG00000128254|transcript|ENST00000484682|retained_intron|1/2|n.383A>G||||||
22	32439303	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.35C>T|p.Ala12Val|285/5061|35/1995|12/664||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|1/15|c.35C>T||||||,T|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407C>T|||||3420|
22	32439318	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.50T>C|p.Val17Ala|300/5061|50/1995|17/664||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|1/15|c.50T>C||||||,C|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407T>C|||||3435|
22	32439365	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|1/15|c.97G>A|p.Val33Ile|347/5061|97/1995|33/664||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|2/15|c.97G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|1/15|c.97G>A||||||,A|downstream_gene_variant|MODIFIER|SC22CB-1E7.1|ENSG00000232346|transcript|ENST00000423610|processed_pseudogene||n.*407G>A|||||3482|
22	32445946	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|2/15|c.152A>G|p.Asn51Ser|402/5061|152/1995|51/664||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000266088|protein_coding|2/15|c.152A>G||||||
22	32479102	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|7/15|c.625G>T|p.Val209Leu|875/5061|625/1995|209/664||,T|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|6/14|c.244G>T|p.Val82Leu|572/2088|244/1614|82/537||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|7/15|c.625G>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|8/15|c.625G>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|6/14|c.244G>T||||||,T|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|7/14|c.244G>T||||||,T|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1G>T|||||1734|,T|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|1/4|n.65G>T||||||
22	32480521	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|8/15|c.760A>G|p.Lys254Glu|1010/5061|760/1995|254/664||,G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|7/14|c.379A>G|p.Lys127Glu|707/2088|379/1614|127/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|8/15|c.760A>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|7/14|c.379A>G||||||,G|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1A>G|||||315|,G|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|2/4|n.200A>G||||||
22	32480623	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|8/15|c.862T>G|p.Leu288Val|1112/5061|862/1995|288/664||,G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|7/14|c.481T>G|p.Leu161Val|809/2088|481/1614|161/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|8/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000266088|protein_coding|9/15|c.862T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|7/14|c.481T>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|transmembrane_region:Transmembrane_region|ENST00000543737|protein_coding|8/14|c.481T>G||||||,G|upstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.-1T>G|||||213|,G|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|2/4|n.302T>G||||||
22	32482251	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|10/15|c.1066G>A|p.Gly356Ser|1316/5061|1066/1995|356/664||,A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|9/14|c.685G>A|p.Gly229Ser|1013/2088|685/1614|229/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|10/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|9/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|11/15|c.1066G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|9/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|8/14|c.685G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|10/14|c.685G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000486394|retained_intron|4/4|n.506G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|2/5|n.232G>A||||||
22	32487700	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|11/15|c.1231G>A|p.Ala411Thr|1481/5061|1231/1995|411/664||,A|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|10/14|c.850G>A|p.Ala284Thr|1178/2088|850/1614|284/537||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000266088|protein_coding|11/15|c.1231G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.850G>A||||||,A|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Cytoplasmic|ENST00000543737|protein_coding|10/14|c.850G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron|3/5|n.397G>A||||||
22	32500870	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|14/15|c.1763T>C|p.Ile588Thr|2013/5061|1763/1995|588/664||,C|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|13/14|c.1382T>C|p.Ile461Thr|1710/2088|1382/1614|461/537||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|15/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|8/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|10/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|12/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|13/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|9/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|14/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000266088|protein_coding|11/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1763T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|14/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|7/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|9/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|11/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|12/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|8/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|13/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|disulfide_bond|ENST00000543737|protein_coding|10/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1382T>C||||||,C|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1382T>C||||||,C|downstream_gene_variant|MODIFIER|SLC5A1|ENSG00000100170|transcript|ENST00000477969|retained_intron||n.*801T>C|||||2676|
22	32506050	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000266088|protein_coding|15/15|c.1845C>G|p.His615Gln|2095/5061|1845/1995|615/664||,G|missense_variant|MODERATE|SLC5A1|ENSG00000100170|transcript|ENST00000543737|protein_coding|14/14|c.1464C>G|p.His488Gln|1792/2088|1464/1614|488/537||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|15/15|c.1845C>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000266088|protein_coding|14/15|c.1845C>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|14/14|c.1464C>G||||||,G|sequence_feature|LOW|SLC5A1|ENSG00000100170|topological_domain:Extracellular|ENST00000543737|protein_coding|13/14|c.1464C>G||||||
22	32546313	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.647C>T|p.Pro216Leu|720/1363|647/756|216/251||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||400|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1266C>T||||||
22	32546319	.	A	G	.	.	ANN=G|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.641T>C|p.Met214Thr|714/1363|641/756|214/251||,G|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1T>C|||||406|,G|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1260T>C||||||
22	32546409	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|7/9|c.551C>T|p.Ser184Leu|624/1363|551/756|184/251||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||496|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|6/8|n.1170C>T||||||
22	32547484	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|5/9|c.455C>T|p.Thr152Met|528/1363|455/756|152/251||,A|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1C>T|||||1571|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|5/8|n.562C>T||||||
22	32547523	.	A	T	.	.	ANN=T|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|5/9|c.416T>A|p.Val139Glu|489/1363|416/756|139/251||,T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1T>A|||||1610|,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|5/8|n.523T>A||||||
22	32548060	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|4/9|c.394G>A|p.Asp132Asn|467/1363|394/756|132/251||,T|upstream_gene_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000490640|processed_transcript||n.-1G>A|||||2147|,T|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|4/8|n.501G>A||||||
22	32554985	.	A	G	.	.	ANN=G|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/9|c.218T>C|p.Leu73Pro|291/1363|218/756|73/251||,G|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562T>C|||||456|,G|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/8|n.325T>C||||||
22	32554997	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf42|ENSG00000205856|transcript|ENST00000382097|protein_coding|1/9|c.206C>T|p.Thr69Met|279/1363|206/756|69/251||,A|downstream_gene_variant|MODIFIER|RP1-90G24.8|ENSG00000230120|transcript|ENST00000426354|lincRNA||n.*562C>T|||||444|,A|non_coding_exon_variant|MODIFIER|C22orf42|ENSG00000205856|transcript|ENST00000467813|retained_intron|1/8|n.313C>T||||||
22	32587251	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.645G>T|p.Gln215His|1581/2407|645/1137|215/378||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.462G>T|p.Gln154His|667/1496|462/954|154/317||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.375G>T|p.Gln125His|1581/2410|375/867|125/288||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.375G>T|p.Gln125His|623/1452|375/867|125/288||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.645G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.645G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.462G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.462G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.375G>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.375G>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.589G>T||||||
22	32587273	.	A	C	.	.	ANN=C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.623T>G|p.Val208Gly|1559/2407|623/1137|208/378||,C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.440T>G|p.Val147Gly|645/1496|440/954|147/317||,C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.353T>G|p.Val118Gly|1559/2410|353/867|118/288||,C|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.353T>G|p.Val118Gly|601/1452|353/867|118/288||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.623T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.623T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.440T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.440T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.353T>G||||||,C|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.353T>G||||||,C|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.567T>G||||||
22	32587286	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|5/5|c.610G>A|p.Asp204Asn|1546/2407|610/1137|204/378||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|2/2|c.427G>A|p.Asp143Asn|632/1496|427/954|143/317||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|5/5|c.340G>A|p.Asp114Asn|1546/2410|340/867|114/288||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|4/4|c.340G>A|p.Asp114Asn|588/1452|340/867|114/288||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.610G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.610G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.427G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.427G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.340G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.340G>A||||||,T|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|2/2|n.554G>A||||||
22	32588901	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/5|c.544C>T|p.Arg182Trp|1480/2407|544/1137|182/378||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/2|c.361C>T|p.Arg121Trp|566/1496|361/954|121/317||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/5|c.274C>T|p.Arg92Trp|1480/2410|274/867|92/288||,A|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/4|c.274C>T|p.Arg92Trp|522/1452|274/867|92/288||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|4/5|c.544C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000400237|protein_coding|5/5|c.544C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|2/2|c.361C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248980|protein_coding|1/2|c.361C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|4/4|c.274C>T||||||,A|sequence_feature|LOW|RFPL2|ENSG00000128253|domain:B30.2/SPRY|ENST00000248983|protein_coding|3/4|c.274C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/2|n.488C>T||||||
22	32589023	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400237|protein_coding|4/5|c.422G>A|p.Cys141Tyr|1358/2407|422/1137|141/378||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248980|protein_coding|1/2|c.239G>A|p.Cys80Tyr|444/1496|239/954|80/317||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000400236|protein_coding|4/5|c.152G>A|p.Cys51Tyr|1358/2410|152/867|51/288||,T|missense_variant|MODERATE|RFPL2|ENSG00000128253|transcript|ENST00000248983|protein_coding|3/4|c.152G>A|p.Cys51Tyr|400/1452|152/867|51/288||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000400237|protein_coding|4/5|c.422G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000248980|protein_coding|1/2|c.239G>A||||||,T|sequence_feature|LOW|RFPL2|ENSG00000128253|zinc_finger_region:RING-type|ENST00000248983|protein_coding|3/4|c.152G>A||||||,T|non_coding_exon_variant|MODIFIER|RFPL2|ENSG00000128253|transcript|ENST00000489846|processed_transcript|1/2|n.366G>A||||||
22	32614536	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|15/15|c.1945G>A|p.Ala649Thr|1957/2028|1945/1980|649/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|15/15|c.1945G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11273C>T||||||
22	32614694	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|15/15|c.1787G>A|p.Arg596His|1799/2028|1787/1980|596/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1787G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1787G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1787G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+11431C>T||||||
22	32616985	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/15|c.1690C>T|p.Arg564Trp|1702/2028|1690/1980|564/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1690C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1690C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1690C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13722G>A||||||
22	32617002	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|14/15|c.1673G>A|p.Arg558His|1685/2028|1673/1980|558/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|13/15|c.1673G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|14/15|c.1673G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|15/15|c.1673G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+13739C>T||||||
22	32620322	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|13/15|c.1597C>T|p.Leu533Phe|1609/2028|1597/1980|533/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|13/15|c.1597C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+17059G>A||||||
22	32620349	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|13/15|c.1570G>A|p.Val524Met|1582/2028|1570/1980|524/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|13/15|c.1570G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|12/15|c.1570G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+17086C>T||||||
22	32621730	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|12/15|c.1361A>G|p.His454Arg|1373/2028|1361/1980|454/659||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|12/15|c.1361A>G||||||,C|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+18467T>C||||||
22	32621731	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|12/15|c.1360C>T|p.His454Tyr|1372/2028|1360/1980|454/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|12/15|c.1360C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+18468G>A||||||
22	32625208	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/15|c.1253C>T|p.Ser418Leu|1265/2028|1253/1980|418/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1253C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1253C>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1253C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21945G>A||||||
22	32625260	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|11/15|c.1201G>A|p.Ala401Thr|1213/2028|1201/1980|401/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1201G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1201G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1201G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+21997C>T||||||
22	32628900	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/15|c.1007G>A|p.Arg336His|1019/2028|1007/1980|336/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|10/15|c.1007G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|11/15|c.1007G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|9/15|c.1007G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25637C>T||||||
22	32628961	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/15|c.946A>T|p.Met316Leu|958/2028|946/1980|316/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|9/15|c.946A>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25698T>A||||||
22	32629008	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|9/15|c.899G>A|p.Arg300His|911/2028|899/1980|300/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|8/15|c.899G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|9/15|c.899G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+25745C>T||||||
22	32630898	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.847A>G|p.Met283Val|859/2028|847/1980|283/659||,C|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|8/15|c.847A>G||||||,C|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27635T>C||||||
22	32630990	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.755G>A|p.Ser252Asn|767/2028|755/1980|252/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|8/15|c.755G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27727C>T||||||
22	32631018	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|8/15|c.727G>A|p.Val243Ile|739/2028|727/1980|243/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|8/15|c.727G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.274+27755C>T||||||
22	32643471	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|5/15|c.404G>A|p.Arg135Gln|416/2028|404/1980|135/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|6/15|c.404G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Extracellular|ENST00000266086|protein_coding|5/15|c.404G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-20804C>T||||||
22	32647763	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.306A>T|p.Glu102Asp|318/2028|306/1980|102/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|4/15|c.306A>T||||||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|3/15|c.306A>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16512T>A||||||
22	32647831	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.238G>A|p.Gly80Ser|250/2028|238/1980|80/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.238G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.238G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16444C>T||||||
22	32647857	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|3/15|c.212G>A|p.Gly71Asp|224/2028|212/1980|71/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.212G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|3/15|c.212G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-16418C>T||||||
22	32651198	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.119T>A|p.Met40Lys|131/2028|119/1980|40/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.119T>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|1/15|c.119T>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13077A>T||||||
22	32651226	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.91G>A|p.Val31Ile|103/2028|91/1980|31/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|2/15|c.91G>A||||||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|transmembrane_region:Transmembrane_region|ENST00000266086|protein_coding|1/15|c.91G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13049C>T||||||
22	32651238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.79G>A|p.Ala27Thr|91/2028|79/1980|27/659||,T|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.79G>A||||||,T|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-13037C>T||||||
22	32651295	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.22A>T|p.Ser8Cys|34/2028|22/1980|8/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.22A>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-12980T>A||||||
22	32651306	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC5A4|ENSG00000100191|transcript|ENST00000266086|protein_coding|1/15|c.11C>T|p.Thr4Met|23/2028|11/1980|4/659||,A|sequence_feature|LOW|SLC5A4|ENSG00000100191|topological_domain:Cytoplasmic|ENST00000266086|protein_coding|1/15|c.11C>T||||||,A|intron_variant|MODIFIER|RP1-90G24.10|ENSG00000242082|transcript|ENST00000434942|antisense|2/3|n.275-12969G>A||||||
22	32754386	.	C	A	.	.	ANN=A|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.328C>A|p.Leu110Met|533/1488|328/954|110/317||,A|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/3|c.241C>A|p.Leu81Met|259/1214|241/867|81/288||,A|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/2|c.241C>A|p.Leu81Met|248/1203|241/867|81/288||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.328C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.328C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.241C>A||||||,A|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.241C>A||||||,A|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1G>T|||||1411|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447G>T|||||1507|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269G>T|||||1507|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334G>T|||||2253|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304G>T|||||4402|,A|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489G>T|||||4575|WARNING_TRANSCRIPT_INCOMPLETE
22	32754419	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|1/2|c.361C>T|p.Arg121Trp|566/1488|361/954|121/317||,T|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|2/3|c.274C>T|p.Arg92Trp|292/1214|274/867|92/288||,T|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|1/2|c.274C>T|p.Arg92Trp|281/1203|274/867|92/288||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.361C>T||||||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.361C>T||||||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.274C>T||||||,T|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.274C>T||||||,T|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1G>A|||||1444|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding||c.*447G>A|||||1474|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding||c.*269G>A|||||1474|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334G>A|||||2220|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304G>A|||||4369|,T|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489G>A|||||4542|WARNING_TRANSCRIPT_INCOMPLETE
22	32756460	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000249007|protein_coding|2/2|c.595G>C|p.Glu199Gln|800/1488|595/954|199/317||,C|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000397468|protein_coding|3/3|c.508G>C|p.Glu170Gln|526/1214|508/867|170/288||,C|missense_variant|MODERATE|RFPL3|ENSG00000128276|transcript|ENST00000382088|protein_coding|2/2|c.508G>C|p.Glu170Gln|515/1203|508/867|170/288||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|1/2|c.595G>C||||||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000249007|protein_coding|2/2|c.595G>C||||||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|1/2|c.508G>C||||||,C|sequence_feature|LOW|RFPL3|ENSG00000128276|domain:B30.2/SPRY|ENST00000382088|protein_coding|2/2|c.508G>C||||||,C|3_prime_UTR_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000400234|protein_coding|5/5|c.*281C>G|||||281|,C|3_prime_UTR_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382084|protein_coding|4/4|c.*281C>G|||||281|,C|upstream_gene_variant|MODIFIER|IGLCOR22-2|ENSG00000271093|transcript|ENST00000605398|IG_C_pseudogene||n.-1C>G|||||3485|,C|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000461833|processed_transcript||n.*334C>G|||||179|,C|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000382086|protein_coding||c.*304C>G|||||2328|,C|downstream_gene_variant|MODIFIER|RFPL3S|ENSG00000205853|transcript|ENST00000577714|protein_coding||c.*489C>G|||||2501|WARNING_TRANSCRIPT_INCOMPLETE
22	32788264	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|11/12|c.1373C>T|p.Ala458Val|1472/2027|1373/1518|458/505||,A|3_prime_UTR_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|7/8|c.*43C>T|||||43|
22	32791057	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/12|c.1135C>T|p.Arg379Cys|1234/2027|1135/1518|379/505||,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536C>T|||||2878|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594C>T|||||2972|,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564C>T|||||2978|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2565C>T||||||
22	32791195	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|9/12|c.997G>A|p.Ala333Thr|1096/2027|997/1518|333/505||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536G>A|||||2740|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594G>A|||||2834|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564G>A|||||2840|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-2703G>A||||||
22	32792065	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|8/12|c.986G>A|p.Arg329His|1085/2027|986/1518|329/505||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.*536G>A|||||1870|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.*594G>A|||||1964|,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.*564G>A|||||1970|,T|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.478-3573G>A||||||
22	32795708	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|6/12|c.536C>T|p.Ser179Phe|635/2027|536/1518|179/505||,A|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.*767C>T|||||1841|,A|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+2046C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron|1/2|n.265C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|4/5|n.417C>T||||||,A|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|4/5|n.393C>T||||||
22	32797744	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/12|c.487A>G|p.Met163Val|586/2027|487/1518|163/505||,C|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.-1A>G|||||1772|,C|intron_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/7|c.477+10A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/5|n.368A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/5|n.344A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|5/5|n.572A>G||||||
22	32797807	.	G	T	.	.	ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|5/12|c.424C>A|p.Gln142Lys|523/2027|424/1518|142/505||,T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|5/8|c.424C>A|p.Gln142Lys|505/1188|424/528|142/175||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000498434|retained_intron||n.-1C>A|||||1835|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|3/5|n.305C>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|3/5|n.281C>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|5/5|n.509C>A||||||
22	32802718	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/12|c.271G>A|p.Gly91Arg|370/2027|271/1518|91/505||,T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/8|c.271G>A|p.Gly91Arg|352/1188|271/528|91/175||,T|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628G>A|||||1148|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/5|n.152G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/5|n.128G>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/5|n.356G>A||||||
22	32802742	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|4/12|c.247A>G|p.Ile83Val|346/2027|247/1518|83/505||,C|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|4/8|c.247A>G|p.Ile83Val|328/1188|247/528|83/175||,C|downstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.*628A>G|||||1124|,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript|2/5|n.128A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript|2/5|n.104A>G||||||,C|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|4/5|n.332A>G||||||
22	32804176	.	G	T	.	.	ANN=T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding|3/12|c.226C>A|p.Pro76Thr|325/2027|226/1518|76/505||,T|missense_variant|MODERATE|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding|3/8|c.226C>A|p.Pro76Thr|307/1188|226/528|76/175||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000476619|processed_transcript||n.-1C>A|||||663|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000485373|processed_transcript||n.-1C>A|||||780|,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron|3/5|n.311C>A||||||,T|non_coding_exon_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron|3/3|n.318C>A||||||
22	32810346	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|15/15|c.1468G>A|p.Val490Ile|1468/1980|1468/1524|490/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|16/16|c.1468G>A|p.Val490Ile|1579/2091|1468/1524|490/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|15/15|c.640G>A|p.Val214Ile|1374/1487|640/696|214/231||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|15/15|c.739G>A|p.Val247Ile|1383/1439|739/795|247/264||,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100G>A|||||2104|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82G>A|||||2122|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1G>A|||||2118|,T|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1G>A|||||2111|
22	32810378	.	T	G	.	.	ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|15/15|c.1436A>C|p.Glu479Ala|1436/1980|1436/1524|479/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|16/16|c.1436A>C|p.Glu479Ala|1547/2091|1436/1524|479/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|15/15|c.608A>C|p.Glu203Ala|1342/1487|608/696|203/231||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|15/15|c.707A>C|p.Glu236Ala|1351/1439|707/795|236/264||,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100A>C|||||2136|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82A>C|||||2154|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1A>C|||||2150|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1A>C|||||2143|
22	32811952	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|14/15|c.1351T>C|p.Ser451Pro|1351/1980|1351/1524|451/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|15/16|c.1351T>C|p.Ser451Pro|1462/2091|1351/1524|451/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|14/15|c.523T>C|p.Ser175Pro|1257/1487|523/696|175/231||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|14/15|c.622T>C|p.Ser208Pro|1266/1439|622/795|208/264||,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100T>C|||||3710|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82T>C|||||3728|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1T>C|||||3724|,G|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1T>C|||||3717|
22	32813110	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|13/15|c.1286C>T|p.Ser429Leu|1286/1980|1286/1524|429/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|14/16|c.1286C>T|p.Ser429Leu|1397/2091|1286/1524|429/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|13/15|c.458C>T|p.Ser153Leu|1192/1487|458/696|153/231||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|13/15|c.557C>T|p.Ser186Leu|1201/1439|557/795|186/264||,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000216038|protein_coding||c.-100C>T|||||4868|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000451746|protein_coding||c.-82C>T|||||4886|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000487704|retained_intron||n.-1C>T|||||4882|,A|upstream_gene_variant|MODIFIER|RTCB|ENSG00000100220|transcript|ENST00000463455|retained_intron||n.-1C>T|||||4875|
22	32828366	.	C	A	.	.	ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|10/15|c.1143G>T|p.Met381Ile|1143/1980|1143/1524|381/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|11/16|c.1143G>T|p.Met381Ile|1254/2091|1143/1524|381/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|10/15|c.315G>T|p.Met105Ile|1049/1487|315/696|105/231||,A|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|10/14|c.421-965G>T||||||
22	32831711	.	C	G	.	.	ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.904G>C|p.Val302Leu|904/1980|904/1524|302/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.904G>C|p.Val302Leu|1015/2091|904/1524|302/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.76G>C|p.Val26Leu|810/1487|76/696|26/231||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.346G>C|p.Val116Leu|990/1439|346/795|116/264||
22	32831809	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.806T>C|p.Val269Ala|806/1980|806/1524|269/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.806T>C|p.Val269Ala|917/2091|806/1524|269/507||,G|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.248T>C|p.Val83Ala|892/1439|248/795|83/264||,G|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-23T>C|||||23|
22	32831830	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.785C>T|p.Pro262Leu|785/1980|785/1524|262/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.785C>T|p.Pro262Leu|896/2091|785/1524|262/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.227C>T|p.Pro76Leu|871/1439|227/795|76/264||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-44C>T|||||44|
22	32831837	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|8/15|c.778G>A|p.Asp260Asn|778/1980|778/1524|260/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|9/16|c.778G>A|p.Asp260Asn|889/2091|778/1524|260/507||,T|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|9/15|c.220G>A|p.Asp74Asn|864/1439|220/795|74/264||,T|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|8/15|c.-51G>A|||||51|
22	32833754	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|7/15|c.740A>G|p.Asn247Ser|740/1980|740/1524|247/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|8/16|c.740A>G|p.Asn247Ser|851/2091|740/1524|247/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|8/15|c.182A>G|p.Asn61Ser|826/1439|182/795|61/264||,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|7/15|c.-89A>G|||||1968|
22	32838673	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|6/15|c.640C>T|p.Leu214Phe|640/1980|640/1524|214/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|7/16|c.640C>T|p.Leu214Phe|751/2091|640/1524|214/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|7/15|c.82C>T|p.Leu28Phe|726/1439|82/795|28/264||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|6/15|c.-189C>T|||||6887|
22	32841928	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|4/15|c.430A>G|p.Ile144Val|430/1980|430/1524|144/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|5/16|c.430A>G|p.Ile144Val|541/2091|430/1524|144/507||,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|5/15|c.-129A>G|||||271|,C|intron_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/14|c.-235+1271A>G||||||
22	32843259	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/15|c.314C>T|p.Ala105Val|314/1980|314/1524|105/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/16|c.314C>T|p.Ala105Val|425/2091|314/1524|105/507||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/15|c.-295C>T|||||11473|,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/15|c.-331C>T|||||1602|
22	32843317	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|3/15|c.256A>G|p.Ser86Gly|256/1980|256/1524|86/507||,C|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|4/16|c.256A>G|p.Ser86Gly|367/2091|256/1524|86/507||,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|5/15|c.-353A>G|||||11531|,C|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|3/15|c.-389A>G|||||1660|
22	32849470	.	T	A	.	.	ANN=A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000300399|protein_coding|2/15|c.145A>T|p.Met49Leu|145/1980|145/1524|49/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397452|protein_coding|3/16|c.145A>T|p.Met49Leu|256/2091|145/1524|49/507||,A|missense_variant|MODERATE|BPIFC|ENSG00000184459|transcript|ENST00000397450|protein_coding|4/4|c.145A>T|p.Met49Leu|309/458|145/249|49/82||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|4/15|c.-464A>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|2/15|c.-500A>T||||||,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000534972|protein_coding|4/15|c.-464A>T|||||17684|,A|5_prime_UTR_variant|MODIFIER|BPIFC|ENSG00000184459|transcript|ENST00000432451|protein_coding|2/15|c.-500A>T|||||7813|
22	32871365	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/3|c.17G>A|p.Gly6Glu|142/514|17/389|6/128||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/9|c.17G>A|p.Gly6Glu|142/1758|17/1332|6/443||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.122+254G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.122+254G>A||||||,A|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|1/9|c.-241G>A|||||3823|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.-586G>A|||||215|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.-1G>A|||||2657|,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|1/8|c.122+254G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+254G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.122+254G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.110+254G>A||||||
22	32875050	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.205G>A|p.Val69Ile|532/2195|205/1569|69/522||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|1/9|c.205G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Ubiquitin-like|ENST00000266087|protein_coding|2/9|c.205G>A||||||,A|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-138G>A|||||138|,A|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-138G>A|||||138|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+3939G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|1/8|n.123-70G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|1/6|n.111-70G>A||||||,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|1/2|c.38-70G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|1/8|c.38-70G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.245G>A||||||
22	32875122	.	T	G	.	.	ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.277T>G|p.Ser93Ala|604/2195|277/1569|93/522||,G|missense_variant&splice_region_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/3|c.40T>G|p.Ser14Ala|165/514|40/389|14/128||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant&splice_region_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/9|c.40T>G|p.Ser14Ala|165/1758|40/1332|14/443||,G|splice_region_variant&non_coding_exon_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.125T>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/7|n.113T>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-66T>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-66T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_PINK1|ENST00000266087|protein_coding|2/9|c.277T>G||||||,G|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.-66T>G|||||66|,G|5_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.-66T>G|||||66|WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+4011T>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.317T>G||||||
22	32875203	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|2/9|c.358C>T|p.Pro120Ser|685/2195|358/1569|120/522||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|2/3|c.121C>T|p.Pro41Ser|246/514|121/389|41/128||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|2/9|c.121C>T|p.Pro41Ser|246/1758|121/1332|41/443||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|2/9|c.16C>T|p.Pro6Ser|378/1888|16/1227|6/408||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding|2/3|c.16C>T|p.Pro6Ser|601/747|16/162|6/53||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_PINK1|ENST00000266087|protein_coding|2/9|c.358C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*56C>T|||||56|,T|intron_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|1/7|n.122+4092C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|2/9|n.*56C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|2/7|n.194C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript|2/2|n.398C>T||||||
22	32879974	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/9|c.508C>T|p.Leu170Phe|835/2195|508/1569|170/522||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|3/3|c.271C>T|p.Leu91Phe|396/514|271/389|91/128||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/9|c.271C>T|p.Leu91Phe|396/1758|271/1332|91/443||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/9|c.166C>T|p.Leu56Phe|528/1888|166/1227|56/408||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*87C>T|||||87|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*206C>T|||||4827|,T|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1C>T|||||3301|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747C>T|||||4|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413C>T|||||4756|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*87C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*206C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/7|n.344C>T||||||
22	32880067	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|3/9|c.601G>A|p.Val201Met|928/2195|601/1569|201/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding|3/3|c.364G>A|p.Val122Met|489/514|364/389|122/128||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|3/9|c.364G>A|p.Val122Met|489/1758|364/1332|122/443||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|3/9|c.259G>A|p.Val87Met|621/1888|259/1227|87/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000266087|protein_coding|3/9|c.601G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.364G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|helix|ENST00000382058|protein_coding|3/9|c.364G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*180G>A|||||180|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*299G>A|||||4920|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1G>A|||||3208|,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747G>A|||||97|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000465418|processed_transcript||n.*413G>A|||||4849|,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|2/8|n.*180G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|3/9|n.*299G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|3/7|n.437G>A||||||
22	32881190	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|4/9|c.781G>A|p.Val261Ile|1108/2195|781/1569|261/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|4/9|c.544G>A|p.Val182Ile|669/1758|544/1332|182/443||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|4/9|c.439G>A|p.Val147Ile|801/1888|439/1227|147/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|5/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000266087|protein_coding|4/9|c.781G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|5/9|c.544G>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|beta_strand|ENST00000382058|protein_coding|4/9|c.544G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/8|n.*360G>A|||||1303|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/9|n.*479G>A|||||6043|,A|upstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.-1G>A|||||2085|,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514G>A|||||1098|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747G>A|||||1220|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|3/8|n.*360G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|4/9|n.*479G>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|4/7|n.617G>A||||||
22	32883747	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|5/9|c.803A>G|p.Asn268Ser|1130/2195|803/1569|268/522||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|5/9|c.566A>G|p.Asn189Ser|691/1758|566/1332|189/443||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|5/9|c.461A>G|p.Asn154Ser|823/1888|461/1227|154/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|5/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|7/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|3/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|6/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000266087|protein_coding|4/9|c.803A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|5/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|7/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|3/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|6/9|c.566A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_dimerization_and_interaction_with_PSMF1|ENST00000382058|protein_coding|4/9|c.566A>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|4/8|n.*382A>G|||||3860|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|5/9|n.*501A>G|||||8600|,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000452138|protein_coding||c.*514A>G|||||3655|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000444207|protein_coding||c.*747A>G|||||3777|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|4/8|n.*382A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|5/9|n.*501A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.639A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron|1/2|n.473A>G||||||
22	32889191	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|7/9|c.1067C>T|p.Ser356Phe|1394/2195|1067/1569|356/522||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|7/9|c.830C>T|p.Ser277Phe|955/1758|830/1332|277/443||,T|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|7/9|c.725C>T|p.Ser242Phe|1087/1888|725/1227|242/408||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|domain:F-box|ENST00000266087|protein_coding|7/9|c.1067C>T||||||,T|sequence_feature|LOW|FBXO7|ENSG00000100225|domain:F-box|ENST00000382058|protein_coding|7/9|c.830C>T||||||,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*646C>T|||||9304|,T|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*765C>T|||||14044|,T|downstream_gene_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000484607|retained_intron||n.*569C>T|||||2091|,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|6/8|n.*646C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|7/9|n.*765C>T||||||,T|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|5/7|n.6083C>T||||||
22	32894198	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1250C>G|p.Ser417Trp|1577/2195|1250/1569|417/522||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1013C>G|p.Ser338Trp|1138/1758|1013/1332|338/443||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.908C>G|p.Ser303Trp|1270/1888|908/1227|303/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1250C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1250C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1250C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1013C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1013C>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1013C>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*829C>G|||||14311|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*948C>G|||||19051|,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*829C>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*948C>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6266C>G||||||
22	32894219	.	T	A	.	.	ANN=A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1271T>A|p.Phe424Tyr|1598/2195|1271/1569|424/522||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1034T>A|p.Phe345Tyr|1159/1758|1034/1332|345/443||,A|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.929T>A|p.Phe310Tyr|1291/1888|929/1227|310/408||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000266087|protein_coding|9/9|c.1271T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1034T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1034T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1034T>A||||||,A|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000382058|protein_coding|9/9|c.1034T>A||||||,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*850T>A|||||14332|,A|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*969T>A|||||19072|,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*850T>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*969T>A||||||,A|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6287T>A||||||
22	32894453	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000266087|protein_coding|9/9|c.1505A>G|p.Asn502Ser|1832/2195|1505/1569|502/522||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000382058|protein_coding|9/9|c.1268A>G|p.Asn423Ser|1393/1758|1268/1332|423/443||,G|missense_variant|MODERATE|FBXO7|ENSG00000100225|transcript|ENST00000397426|protein_coding|9/9|c.1163A>G|p.Asn388Ser|1525/1888|1163/1227|388/408||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|7/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|8/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000266087|protein_coding|9/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000266087|protein_coding|9/9|c.1505A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|7/9|c.1268A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|9/9|c.1268A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|region_of_interest:Important_for_interaction_with_CDK6|ENST00000382058|protein_coding|8/9|c.1268A>G||||||,G|sequence_feature|LOW|FBXO7|ENSG00000100225|compositionally_biased_region:Pro-rich|ENST00000382058|protein_coding|9/9|c.1268A>G||||||,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*1084A>G|||||14566|,G|3_prime_UTR_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*1203A>G|||||19306|,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000420700|nonsense_mediated_decay|8/8|n.*1084A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000425028|nonsense_mediated_decay|9/9|n.*1203A>G||||||,G|non_coding_exon_variant|MODIFIER|FBXO7|ENSG00000100225|transcript|ENST00000492535|retained_intron|7/7|n.6521A>G||||||
22	32914067	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1573G>C|p.Glu525Gln|1732/3039|1573/1743|525/580||,G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1573G>C|p.Glu525Gln|1816/3126|1573/1743|525/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1573G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1573G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1573G>C||||||,G|downstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.*507G>C|||||113|,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.541G>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.555G>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.464G>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.546G>C||||||
22	32914231	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1409G>A|p.Ser470Asn|1568/3039|1409/1743|470/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1409G>A|p.Ser470Asn|1652/3126|1409/1743|470/580||,T|sequence_feature|MODERATE|SYN3|ENSG00000185666|amino_acid_modification:Phosphoserine|ENST00000332840|protein_coding|12/13|c.1409G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1409G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1409G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1409G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.377G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.391G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.300G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.382G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|4/4|n.456G>A||||||
22	32914312	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|12/13|c.1328G>A|p.Arg443His|1487/3039|1328/1743|443/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|13/14|c.1328G>A|p.Arg443His|1571/3126|1328/1743|443/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1328G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1328G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1328G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|3/4|n.296G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467095|processed_transcript|2/3|n.310G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|2/3|n.219G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|3/3|n.301G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|4/4|n.375G>A||||||
22	32923919	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1304G>A|p.Arg435His|1463/3039|1304/1743|435/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1304G>A|p.Arg435His|1547/3126|1304/1743|435/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1304G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1304G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1304G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+942G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+942G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.272G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.351G>A||||||
22	32923920	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1303C>A|p.Arg435Ser|1462/3039|1303/1743|435/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1303C>A|p.Arg435Ser|1546/3126|1303/1743|435/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1303C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1303C>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1303C>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+941C>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+941C>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.271C>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.350C>A||||||
22	32923949	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1274T>C|p.Leu425Pro|1433/3039|1274/1743|425/580||,G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1274T>C|p.Leu425Pro|1517/3126|1274/1743|425/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1274T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1274T>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1274T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+912T>C||||||,G|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+912T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.242T>C||||||,G|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.321T>C||||||
22	32923979	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|11/13|c.1244A>G|p.Lys415Arg|1403/3039|1244/1743|415/580||,C|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|12/14|c.1244A>G|p.Lys415Arg|1487/3126|1244/1743|415/580||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|12/13|c.1244A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|10/13|c.1244A>G||||||,C|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:J|ENST00000332840|protein_coding|11/13|c.1244A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron|1/2|n.209+882A>G||||||,C|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript|2/2|n.291+882A>G||||||,C|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron|2/4|n.212A>G||||||,C|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript|3/4|n.291A>G||||||
22	32929861	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|9/13|c.1013G>C|p.Ser338Thr|1172/3039|1013/1743|338/580||,G|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|10/14|c.1013G>C|p.Ser338Thr|1256/3126|1013/1743|338/580||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|8/13|c.1013G>C||||||,G|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|9/13|c.1013G>C||||||,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000483062|retained_intron||n.-1G>C|||||4803|,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000461446|retained_intron||n.-1G>C|||||4792|,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000459990|processed_transcript||n.-1G>C|||||3672|,G|upstream_gene_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000468922|processed_transcript||n.-1G>C|||||3686|
22	32937633	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|7/13|c.841G>A|p.Ala281Thr|1000/3039|841/1743|281/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|8/14|c.841G>A|p.Ala281Thr|1084/3126|841/1743|281/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.841G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|beta_strand|ENST00000332840|protein_coding|7/13|c.841G>A||||||
22	33254048	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|4/5|c.361G>A|p.Val121Met|662/4603|361/636|121/211||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+6854C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+6854C>T||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.361G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.361G>A||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||1958|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+6854C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+6854C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+6854C>T||||||
22	33254112	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|4/5|c.425G>A|p.Gly142Asp|726/4603|425/636|142/211||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+6790C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+6790C>T||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|1/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|2/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|3/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|domain:NTR|ENST00000266085|protein_coding|4/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|1/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|2/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|3/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.425G>A||||||,A|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.425G>A||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||1894|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+6790C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+6790C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+6790C>T||||||
22	33255284	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.556C>T|p.Arg186Trp|857/4603|556/636|186/211||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5618G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5618G>A||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|5/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|3/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|region_of_interest:Mediates_interaction_with_EFEMP1|ENST00000266085|protein_coding|4/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|5/5|c.556C>T||||||,T|sequence_feature|LOW|TIMP3|ENSG00000100234|disulfide_bond|ENST00000266085|protein_coding|4/5|c.556C>T||||||,T|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411G>A|||||722|,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5618G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5618G>A||||||,T|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5618G>A||||||
22	33255315	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TIMP3|ENSG00000100234|transcript|ENST00000266085|protein_coding|5/5|c.587G>A|p.Arg196Gln|888/4603|587/636|196/211||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.711+5587C>T||||||,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.711+5587C>T||||||,A|downstream_gene_variant|MODIFIER|Z98256.1|ENSG00000183531|transcript|ENST00000327661|pseudogene||n.*411C>T|||||691|,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|5/12|c.711+5587C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|6/13|c.711+5587C>T||||||,A|intron_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|2/2|n.225+5587C>T||||||
22	33264982	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|4/13|c.592G>A|p.Val198Ile|751/3039|592/1743|198/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|5/14|c.592G>A|p.Val198Ile|835/3126|592/1743|198/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.592G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|helix|ENST00000332840|protein_coding|4/13|c.592G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000462268|processed_transcript|1/3|n.106G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000467824|retained_intron|1/2|n.64G>A||||||
22	33327390	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|3/13|c.446G>A|p.Gly149Glu|605/3039|446/1743|149/580||,T|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|4/14|c.446G>A|p.Gly149Glu|689/3126|446/1743|149/580||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|3/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|10/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|2/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|5/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|6/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|8/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|9/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|1/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|7/13|c.446G>A||||||,T|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:C|ENST00000332840|protein_coding|4/13|c.446G>A||||||,T|non_coding_exon_variant|MODIFIER|SYN3|ENSG00000185666|transcript|ENST00000472027|retained_intron|2/2|n.185G>A||||||
22	33402580	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.68C>T|p.Thr23Met|227/3039|68/1743|23/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.68C>T|p.Thr23Met|311/3126|68/1743|23/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.68C>T|p.Thr23Met|554/855|68/369|23/122||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.68C>T|p.Thr23Met|359/632|68/341|23/112||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:A|ENST00000332840|protein_coding|1/13|c.68C>T||||||
22	33402604	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000332840|protein_coding|1/13|c.44C>T|p.Ala15Val|203/3039|44/1743|15/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000358763|protein_coding|2/14|c.44C>T|p.Ala15Val|287/3126|44/1743|15/580||,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000441821|protein_coding|2/3|c.44C>T|p.Ala15Val|530/855|44/369|15/122||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SYN3|ENSG00000185666|transcript|ENST00000412575|protein_coding|2/3|c.44C>T|p.Ala15Val|335/632|44/341|15/112||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SYN3|ENSG00000185666|region_of_interest:A|ENST00000332840|protein_coding|1/13|c.44C>T||||||
22	33673104	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.2015G>A|p.Arg672Gln|2587/4409|2015/2271|672/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1859G>A|p.Arg620Gln|2348/4170|1859/2115|620/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.2015G>A|p.Arg672Gln|2531/4138|2015/2271|672/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1859G>A|p.Arg620Gln|2361/3955|1859/2115|620/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1412G>A|p.Arg471Gln|1509/2008|1412/1668|471/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1868G>A|p.Arg623Gln|2070/2533|1868/2124|623/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.2015G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.2015G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27111G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6084G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38967G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33673125	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.1994G>A|p.Arg665His|2566/4409|1994/2271|665/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1838G>A|p.Arg613His|2327/4170|1838/2115|613/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.1994G>A|p.Arg665His|2510/4138|1994/2271|665/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1838G>A|p.Arg613His|2340/3955|1838/2115|613/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1391G>A|p.Arg464His|1488/2008|1391/1668|464/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1847G>A|p.Arg616His|2049/2533|1847/2124|616/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1994G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1994G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27090G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6063G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38946G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33673170	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.1949G>A|p.Arg650Gln|2521/4409|1949/2271|650/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1793G>A|p.Arg598Gln|2282/4170|1793/2115|598/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.1949G>A|p.Arg650Gln|2465/4138|1949/2271|650/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1793G>A|p.Arg598Gln|2295/3955|1793/2115|598/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1346G>A|p.Arg449Gln|1443/2008|1346/1668|449/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1802G>A|p.Arg601Gln|2004/2533|1802/2124|601/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1949G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1949G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27045G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+6018G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38901G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33673191	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|15/16|c.1928G>A|p.Arg643Gln|2500/4409|1928/2271|643/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|14/15|c.1772G>A|p.Arg591Gln|2261/4170|1772/2115|591/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|14/15|c.1928G>A|p.Arg643Gln|2444/4138|1928/2271|643/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|13/14|c.1772G>A|p.Arg591Gln|2274/3955|1772/2115|591/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|10/11|c.1325G>A|p.Arg442Gln|1422/2008|1325/1668|442/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|13/14|c.1781G>A|p.Arg594Gln|1983/2533|1781/2124|594/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1928G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1928G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/5|c.761+27024G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|6/6|c.908+5997G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+38880G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33700270	.	T	C	.	.	ANN=C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1675A>G|p.Met559Val|2247/4409|1675/2271|559/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.706A>G|p.Met236Val|706/5368|706/831|236/276||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.706A>G|p.Met236Val|706/1736|706/978|236/325||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1519A>G|p.Met507Val|2008/4170|1519/2115|507/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1675A>G|p.Met559Val|2191/4138|1675/2271|559/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1519A>G|p.Met507Val|2021/3955|1519/2115|507/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.1072A>G|p.Met358Val|1169/2008|1072/1668|358/555||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1675A>G|p.Met559Val|1877/2533|1675/2124|559/707||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1675A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1675A>G||||||,C|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11801A>G||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33700289	.	C	G	.	.	ANN=G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1656G>C|p.Lys552Asn|2228/4409|1656/2271|552/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.687G>C|p.Lys229Asn|687/5368|687/831|229/276||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.687G>C|p.Lys229Asn|687/1736|687/978|229/325||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1500G>C|p.Lys500Asn|1989/4170|1500/2115|500/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1656G>C|p.Lys552Asn|2172/4138|1656/2271|552/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1500G>C|p.Lys500Asn|2002/3955|1500/2115|500/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.1053G>C|p.Lys351Asn|1150/2008|1053/1668|351/555||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1656G>C|p.Lys552Asn|1858/2533|1656/2124|552/707||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1656G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1656G>C||||||,G|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11782G>C||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33700360	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|13/16|c.1585G>A|p.Val529Met|2157/4409|1585/2271|529/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|5/6|c.616G>A|p.Val206Met|616/5368|616/831|206/276||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|5/7|c.616G>A|p.Val206Met|616/1736|616/978|206/325||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|12/15|c.1429G>A|p.Val477Met|1918/4170|1429/2115|477/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|12/15|c.1585G>A|p.Val529Met|2101/4138|1585/2271|529/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|11/14|c.1429G>A|p.Val477Met|1931/3955|1429/2115|477/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|8/11|c.982G>A|p.Val328Met|1079/2008|982/1668|328/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|12/14|c.1585G>A|p.Val529Met|1787/2533|1585/2124|529/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1585G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1585G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|4/4|c.482+11711G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	33733678	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|11/16|c.1241G>A|p.Arg414Gln|1813/4409|1241/2271|414/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000608642|protein_coding|3/6|c.272G>A|p.Arg91Gln|272/5368|272/831|91/276||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000610186|protein_coding|3/7|c.272G>A|p.Arg91Gln|272/1736|272/978|91/325||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000609799|protein_coding|3/5|c.272G>A|p.Arg91Gln|272/581|272/552|91/183||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|10/15|c.1241G>A|p.Arg414Gln|1757/4138|1241/2271|414/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000452586|protein_coding|6/11|c.638G>A|p.Arg213Gln|735/2008|638/1668|213/555||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|10/14|c.1241G>A|p.Arg414Gln|1443/2533|1241/2124|414/707||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.1241G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.1241G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000421768|protein_coding||c.*658G>A|||||77|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|10/14|c.1132-21444G>A||||||,T|intron_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|9/13|c.1132-21444G>A||||||
22	34046550	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.211G>A|p.Glu71Lys|783/4409|211/2271|71/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.211G>A|p.Glu71Lys|700/4170|211/2115|71/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.211G>A|p.Glu71Lys|727/4138|211/2271|71/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.211G>A|p.Glu71Lys|713/3955|211/2115|71/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.211G>A|p.Glu71Lys|413/2533|211/2124|71/707||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.211G>A|p.Glu71Lys|362/559|211/408|71/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.211G>A|p.Glu71Lys|577/773|211/407|71/134||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.211G>A|p.Glu71Lys|447/562|211/326|71/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.211G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.211G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding||c.*560G>A|||||31|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568G>A|||||68|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.360G>A||||||,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.413G>A||||||
22	34046582	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.179G>A|p.Arg60Gln|751/4409|179/2271|60/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.179G>A|p.Arg60Gln|668/4170|179/2115|60/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.179G>A|p.Arg60Gln|695/4138|179/2271|60/756||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.179G>A|p.Arg60Gln|681/3955|179/2115|60/704||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.179G>A|p.Arg60Gln|381/2533|179/2124|60/707||,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.179G>A|p.Arg60Gln|330/559|179/408|60/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.179G>A|p.Arg60Gln|545/773|179/407|60/134||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.179G>A|p.Arg60Gln|415/562|179/326|60/107||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant&splice_region_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.179G>A|p.Arg60Gln|559/560|179/180|60/59||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.179G>A||||||,T|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.179G>A||||||,T|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568G>A|||||36|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.328G>A||||||,T|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.381G>A||||||
22	34046598	.	T	C	.	.	ANN=C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.163A>G|p.Thr55Ala|735/4409|163/2271|55/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.163A>G|p.Thr55Ala|652/4170|163/2115|55/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.163A>G|p.Thr55Ala|679/4138|163/2271|55/756||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.163A>G|p.Thr55Ala|665/3955|163/2115|55/704||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.163A>G|p.Thr55Ala|365/2533|163/2124|55/707||,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.163A>G|p.Thr55Ala|314/559|163/408|55/135||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.163A>G|p.Thr55Ala|529/773|163/407|55/134||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.163A>G|p.Thr55Ala|399/562|163/326|55/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.163A>G|p.Thr55Ala|543/560|163/180|55/59||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000397394|protein_coding|3/15|c.163A>G||||||,C|sequence_feature|LOW|LARGE|ENSG00000133424|coiled-coil_region|ENST00000402320|protein_coding|3/14|c.163A>G||||||,C|downstream_gene_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding||c.*568A>G|||||20|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.312A>G||||||,C|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.365A>G||||||
22	34046643	.	C	G	.	.	ANN=G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000354992|protein_coding|4/16|c.118G>C|p.Val40Leu|690/4409|118/2271|40/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000337431|protein_coding|4/15|c.118G>C|p.Val40Leu|607/4170|118/2115|40/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000397394|protein_coding|3/15|c.118G>C|p.Val40Leu|634/4138|118/2271|40/756||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000402320|protein_coding|3/14|c.118G>C|p.Val40Leu|620/3955|118/2115|40/704||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000437602|protein_coding|3/14|c.118G>C|p.Val40Leu|320/2533|118/2124|40/707||,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000430220|protein_coding|3/3|c.118G>C|p.Val40Leu|269/559|118/408|40/135||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000413114|protein_coding|4/4|c.118G>C|p.Val40Leu|484/773|118/407|40/134||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000434071|protein_coding|4/4|c.118G>C|p.Val40Leu|354/562|118/326|40/107||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000432776|protein_coding|3/3|c.118G>C|p.Val40Leu|498/560|118/180|40/59||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|LARGE|ENSG00000133424|transcript|ENST00000423375|protein_coding|4/4|c.118G>C|p.Val40Leu|543/568|118/143|40/46||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|9/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|4/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|6/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|8/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|7/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|3/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|2/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|5/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|10/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|11/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|14/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|15/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|12/15|c.118G>C||||||,G|sequence_feature|LOW|LARGE|ENSG00000133424|topological_domain:Lumenal|ENST00000397394|protein_coding|13/15|c.118G>C||||||,G|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000462606|processed_transcript|2/2|n.267G>C||||||,G|non_coding_exon_variant|MODIFIER|LARGE|ENSG00000133424|transcript|ENST00000494763|processed_transcript|3/3|n.320G>C||||||
22	35463162	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.82A>G|p.Ser28Gly|1034/3384|82/738|28/245||,G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.82A>G|p.Ser28Gly|745/3094|82/738|28/245||,G|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2727T>C||||||
22	35463184	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.104C>T|p.Ala35Val|1056/3384|104/738|35/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.104C>T|p.Ala35Val|767/3094|104/738|35/245||,T|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2749G>A||||||
22	35463225	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.145C>T|p.Pro49Ser|1097/3384|145/738|49/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.145C>T|p.Pro49Ser|808/3094|145/738|49/245||,T|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2790G>A||||||
22	35463249	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|1/4|c.169C>T|p.Pro57Ser|1121/3384|169/738|57/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|2/5|c.169C>T|p.Pro57Ser|832/3094|169/738|57/245||,T|intron_variant|MODIFIER|RP1-272J12.1|ENSG00000227895|transcript|ENST00000448318|antisense|3/9|n.615-2814G>A||||||
22	35478529	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.248G>A|p.Arg83Gln|1200/3384|248/738|83/245||,A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.248G>A|p.Arg83Gln|911/3094|248/738|83/245||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.248G>A||||||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.248G>A||||||
22	35478592	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.311C>T|p.Thr104Ile|1263/3384|311/738|104/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.311C>T|p.Thr104Ile|974/3094|311/738|104/245||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.311C>T||||||,T|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.311C>T||||||
22	35478645	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|2/4|c.364C>G|p.Pro122Ala|1316/3384|364/738|122/245||,G|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|3/5|c.364C>G|p.Pro122Ala|1027/3094|364/738|122/245||,G|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.364C>G||||||,G|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.364C>G||||||
22	35480407	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.413G>A|p.Arg138Gln|1365/3384|413/738|138/245||,A|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.413G>A|p.Arg138Gln|1076/3094|413/738|138/245||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|3/5|c.413G>A||||||,A|sequence_feature|LOW|ISX|ENSG00000175329|DNA-binding_region:Homeobox|ENST00000404699|protein_coding|4/5|c.413G>A||||||
22	35480422	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.428T>C|p.Ile143Thr|1380/3384|428/738|143/245||,C|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.428T>C|p.Ile143Thr|1091/3094|428/738|143/245||
22	35480467	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|3/4|c.473C>T|p.Ala158Val|1425/3384|473/738|158/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|4/5|c.473C>T|p.Ala158Val|1136/3094|473/738|158/245||
22	35481493	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.545C>T|p.Thr182Met|1497/3384|545/738|182/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.545C>T|p.Thr182Met|1208/3094|545/738|182/245||
22	35481505	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.557C>T|p.Pro186Leu|1509/3384|557/738|186/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.557C>T|p.Pro186Leu|1220/3094|557/738|186/245||
22	35481661	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000308700|protein_coding|4/4|c.713G>T|p.Gly238Val|1665/3384|713/738|238/245||,T|missense_variant|MODERATE|ISX|ENSG00000175329|transcript|ENST00000404699|protein_coding|5/5|c.713G>T|p.Gly238Val|1376/3094|713/738|238/245||
22	35660803	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.422C>T|p.Ser141Leu|550/4047|422/1806|141/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.95C>T|p.Ser32Leu|497/1257|95/855|32/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.95C>T|p.Ser32Leu|676/2178|95/1479|32/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.95C>T|p.Ser32Leu|568/1325|95/852|32/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*258C>T|||||809|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>T|||||758|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559C>T|||||147|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*258C>T||||||
22	35660875	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.494G>T|p.Gly165Val|622/4047|494/1806|165/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.167G>T|p.Gly56Val|569/1257|167/855|56/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.167G>T|p.Gly56Val|748/2178|167/1479|56/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.167G>T|p.Gly56Val|640/1325|167/852|56/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*330G>T|||||881|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>T|||||830|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>T|||||219|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*330G>T||||||
22	35660939	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.558G>T|p.Glu186Asp|686/4047|558/1806|186/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.231G>T|p.Glu77Asp|633/1257|231/855|77/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.231G>T|p.Glu77Asp|812/2178|231/1479|77/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.231G>T|p.Glu77Asp|704/1325|231/852|77/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*394G>T|||||945|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>T|||||894|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>T|||||283|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*394G>T||||||
22	35661087	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.706C>T|p.Leu236Phe|834/4047|706/1806|236/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.379C>T|p.Leu127Phe|781/1257|379/855|127/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.379C>T|p.Leu127Phe|960/2178|379/1479|127/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.379C>T|p.Leu127Phe|852/1325|379/852|127/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*542C>T|||||1093|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>T|||||1042|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559C>T|||||431|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*542C>T||||||
22	35661127	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.746G>A|p.Arg249Gln|874/4047|746/1806|249/601||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.419G>A|p.Arg140Gln|821/1257|419/855|140/284||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.419G>A|p.Arg140Gln|1000/2178|419/1479|140/492||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.419G>A|p.Arg140Gln|892/1325|419/852|140/283||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*582G>A|||||1133|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||1082|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>A|||||471|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*582G>A||||||
22	35661331	.	A	G	.	.	ANN=G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.950A>G|p.Lys317Arg|1078/4047|950/1806|317/601||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.623A>G|p.Lys208Arg|1025/1257|623/855|208/284||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.623A>G|p.Lys208Arg|1204/2178|623/1479|208/492||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.623A>G|p.Lys208Arg|1096/1325|623/852|208/283||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*786A>G|||||1337|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867A>G|||||1286|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559A>G|||||675|,G|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*786A>G||||||
22	35661373	.	A	G	.	.	ANN=G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.992A>G|p.Lys331Arg|1120/4047|992/1806|331/601||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.665A>G|p.Lys222Arg|1067/1257|665/855|222/284||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.665A>G|p.Lys222Arg|1246/2178|665/1479|222/492||,G|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.665A>G|p.Lys222Arg|1138/1325|665/852|222/283||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*828A>G|||||1379|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867A>G|||||1328|,G|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559A>G|||||717|,G|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*828A>G||||||
22	35661486	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.1105G>A|p.Ala369Thr|1233/4047|1105/1806|369/601||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.778G>A|p.Ala260Thr|1180/1257|778/855|260/284||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.778G>A|p.Ala260Thr|1359/2178|778/1479|260/492||,A|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.778G>A|p.Ala260Thr|1251/1325|778/852|260/283||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*941G>A|||||1492|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867G>A|||||1441|,A|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559G>A|||||830|,A|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*941G>A||||||
22	35661493	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|5/11|c.1112C>T|p.Ala371Val|1240/4047|1112/1806|371/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000420166|protein_coding|4/4|c.785C>T|p.Ala262Val|1187/1257|785/855|262/284||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|6/12|c.785C>T|p.Ala262Val|1366/2178|785/1479|262/492||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000455359|protein_coding|5/5|c.785C>T|p.Ala262Val|1258/1325|785/852|262/283||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*948C>T|||||1499|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498325|retained_intron||n.*867C>T|||||1448|,T|downstream_gene_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000464480|retained_intron||n.*559C>T|||||837|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|6/12|n.*948C>T||||||
22	35684269	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000216106|protein_coding|9/11|c.1507C>T|p.Pro503Ser|1635/4047|1507/1806|503/601||,T|missense_variant|MODERATE|HMGXB4|ENSG00000100281|transcript|ENST00000444518|protein_coding|10/12|c.1180C>T|p.Pro394Ser|1761/2178|1180/1479|394/492||,T|3_prime_UTR_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|10/12|n.*1343C>T|||||24275|,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000418170|nonsense_mediated_decay|10/12|n.*1343C>T||||||,T|non_coding_exon_variant|MODIFIER|HMGXB4|ENSG00000100281|transcript|ENST00000498212|retained_intron|2/3|n.610C>T||||||
22	35713916	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/14|c.35C>T|p.Thr12Ile|134/1953|35/1365|12/454||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/15|c.99C>T|p.Asn33Asn|224/2390|99/1482|33/493||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/10|c.99C>T|p.Asn33Asn|228/1133|99/1004|33/333||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/15|c.99C>T|p.Asn33Asn|224/2382|99/1479|33/492||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/14|c.99C>T|p.Asn33Asn|224/2252|99/1344|33/447||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.99C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.99C>T||||||,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/5|c.-1C>T|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/15|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/5|c.-1C>T|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|2/17|c.-209C>T|||||4100|,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/6|c.-1C>T|||||1|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-4036C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|2/17|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|2/2|n.162C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/3|n.157C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/7|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/6|n.99C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/5|n.99C>T||||||
22	35713931	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|2/14|c.50C>T|p.Thr17Ile|149/1953|50/1365|17/454||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|2/15|c.114C>T|p.Asp38Asp|239/2390|114/1482|38/493||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|2/5|c.15C>T|p.Asp5Asp|166/553|15/402|5/133||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|2/15|c.15C>T|p.Asp5Asp|166/2317|15/1383|5/460||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|2/5|c.15C>T|p.Asp5Asp|181/541|15/375|5/124||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|2/10|c.114C>T|p.Asp38Asp|243/1133|114/1004|38/333||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|2/15|c.114C>T|p.Asp38Asp|239/2382|114/1479|38/492||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|2/14|c.114C>T|p.Asp38Asp|239/2252|114/1344|38/447||,T|synonymous_variant|LOW|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|2/6|c.15C>T|p.Asp5Asp|128/567|15/454|5/150||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|2/15|c.114C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|2/14|c.114C>T||||||,T|5_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|2/17|c.-194C>T|||||4085|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|1/13|n.53-4021C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|2/17|n.114C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron|2/2|n.177C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron|2/3|n.172C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|2/7|n.114C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|2/6|n.114C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|2/5|n.114C>T||||||
22	35719010	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|3/14|c.92C>T|p.Ser31Leu|191/1953|92/1365|31/454||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|3/15|c.118-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|4/15|c.118-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|3/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|4/15|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|3/14|c.217-11C>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|4/14|c.217-11C>T||||||,T|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.-1C>T|||||323|,T|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>T|||||851|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron||n.*555C>T|||||4701|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>T|||||405|,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|3/14|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|3/4|c.118-11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|3/14|c.118-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|3/4|c.118-11C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|3/9|c.199-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|3/14|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|3/13|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|4/16|n.*113-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|2/13|n.*54-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|3/5|n.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|4/16|c.16-11C>T||||||,T|intron_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|3/5|c.118-11C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|4/7|n.235C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|3/5|n.156C>T||||||
22	35719063	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|4/15|c.259G>A|p.Val87Met|384/2390|259/1482|87/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding|4/5|c.160G>A|p.Val54Met|311/553|160/402|54/133||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|4/15|c.160G>A|p.Val54Met|311/2317|160/1383|54/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding|4/5|c.160G>A|p.Val54Met|326/541|160/375|54/124||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|4/10|c.241G>A|p.Val81Met|370/1133|241/1004|81/333||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|4/15|c.259G>A|p.Val87Met|384/2382|259/1479|87/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|4/14|c.259G>A|p.Val87Met|384/2252|259/1344|87/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|3/14|c.145G>A|p.Val49Met|244/1953|145/1365|49/454||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|5/17|c.58G>A|p.Val20Met|400/2583|58/798|20/265||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding|4/6|c.160G>A|p.Val54Met|273/567|160/454|54/150||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|3/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|5/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|2/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000411850|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|4/15|c.160G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|3/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|5/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|2/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:VHS|ENST00000449058|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|4/15|c.259G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|4/14|c.259G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|5/17|n.*155G>A|||||1256|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|4/7|n.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|3/14|n.*96G>A|||||1086|,A|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.-1G>A|||||270|,A|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1G>A|||||798|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000465529|retained_intron||n.*555G>A|||||4754|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>A|||||458|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|5/17|n.*155G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|4/7|n.*36G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|3/14|n.*96G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay|4/6|n.259G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|3/5|n.209G>A||||||
22	35719860	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|6/15|c.601C>G|p.Pro201Ala|726/2390|601/1482|201/493||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|6/15|c.502C>G|p.Pro168Ala|653/2317|502/1383|168/460||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|6/10|c.583C>G|p.Pro195Ala|712/1133|583/1004|195/333||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|6/15|c.601C>G|p.Pro201Ala|726/2382|601/1479|201/492||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|5/14|c.466C>G|p.Pro156Ala|591/2252|466/1344|156/447||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|5/14|c.487C>G|p.Pro163Ala|586/1953|487/1365|163/454||,G|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|7/17|c.400C>G|p.Pro134Ala|742/2583|400/798|134/265||,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/17|n.*497C>G|||||2053|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/7|n.*378C>G|||||833|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/14|n.*438C>G|||||1883|,G|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|5/5|n.*257C>G|||||712|,G|upstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron||n.-1C>G|||||1|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553C>G|||||237|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541C>G|||||264|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849C>G|||||1255|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441C>G|||||57|,G|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567C>G|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|7/17|n.*497C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay|6/7|n.*378C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|5/14|n.*438C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay|5/5|n.*257C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron|2/2|n.391C>G||||||
22	35723351	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|7/15|c.736G>T|p.Ala246Ser|861/2390|736/1482|246/493||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|7/15|c.637G>T|p.Ala213Ser|788/2317|637/1383|213/460||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|7/10|c.718G>T|p.Ala240Ser|847/1133|718/1004|240/333||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|7/15|c.736G>T|p.Ala246Ser|861/2382|736/1479|246/492||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|6/14|c.601G>T|p.Ala201Ser|726/2252|601/1344|201/447||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|6/14|c.622G>T|p.Ala208Ser|721/1953|622/1365|208/454||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|8/17|c.535G>T|p.Ala179Ser|877/2583|535/798|179/265||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.637G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.736G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.601G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.601G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.601G>T||||||,T|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.601G>T||||||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|8/17|n.*632G>T|||||5544|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|6/14|n.*573G>T|||||5374|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608749|protein_coding||c.*553G>T|||||3728|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000608674|protein_coding||c.*541G>T|||||3755|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000487670|retained_intron||n.*849G>T|||||4746|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>T|||||20|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000395736|nonsense_mediated_decay||n.*441G>T|||||3548|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000449508|nonsense_mediated_decay||n.*329G>T|||||3484|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000443206|protein_coding||c.*567G>T|||||3539|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000497448|retained_intron||n.*438G>T|||||3444|,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|8/17|n.*632G>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|6/14|n.*573G>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|2/7|n.135G>T||||||
22	35726376	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|8/15|c.802G>A|p.Val268Ile|927/2390|802/1482|268/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|8/15|c.703G>A|p.Val235Ile|854/2317|703/1383|235/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|8/10|c.784G>A|p.Val262Ile|913/1133|784/1004|262/333||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|8/15|c.802G>A|p.Val268Ile|927/2382|802/1479|268/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|7/14|c.667G>A|p.Val223Ile|792/2252|667/1344|223/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|7/14|c.688G>A|p.Val230Ile|787/1953|688/1365|230/454||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|9/17|c.601G>A|p.Val201Ile|943/2583|601/798|201/265||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|8/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|7/15|c.703G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|8/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|7/15|c.802G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|7/14|c.667G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|6/14|c.667G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*698G>A|||||8569|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*639G>A|||||8399|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>A|||||3045|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*698G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*639G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|3/7|n.201G>A||||||
22	35726464	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|8/15|c.890G>A|p.Arg297His|1015/2390|890/1482|297/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|8/15|c.791G>A|p.Arg264His|942/2317|791/1383|264/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding|8/10|c.872G>A|p.Arg291His|1001/1133|872/1004|291/333||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|8/15|c.890G>A|p.Arg297His|1015/2382|890/1479|297/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|7/14|c.755G>A|p.Arg252His|880/2252|755/1344|252/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|7/14|c.776G>A|p.Arg259His|875/1953|776/1365|259/454||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|9/17|c.689G>A|p.Arg230His|1031/2583|689/798|230/265||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|7/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000411850|protein_coding|6/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000411850|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|9/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|8/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|7/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000447733|protein_coding|6/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|9/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000447733|protein_coding|8/15|c.791G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|7/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000449058|protein_coding|6/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|9/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000449058|protein_coding|8/15|c.890G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|8/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|7/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|6/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|domain:GAT|ENST00000425375|protein_coding|5/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|8/14|c.755G>A||||||,A|sequence_feature|LOW|TOM1|ENSG00000100284|helix|ENST00000425375|protein_coding|7/14|c.755G>A||||||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*786G>A|||||8657|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*727G>A|||||8487|,A|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000439512|nonsense_mediated_decay||n.*307G>A|||||3133|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|9/17|n.*786G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|7/14|n.*727G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|3/7|n.289G>A||||||
22	35730426	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|11/15|c.1133C>T|p.Ala378Val|1258/2390|1133/1482|378/493||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|11/15|c.1034C>T|p.Ala345Val|1185/2317|1034/1383|345/460||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|11/15|c.1133C>T|p.Ala378Val|1258/2382|1133/1479|378/492||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|10/14|c.998C>T|p.Ala333Val|1123/2252|998/1344|333/447||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|10/14|c.1019C>T|p.Ala340Val|1118/1953|1019/1365|340/454||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/17|n.*1229C>T|||||12619|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/14|n.*970C>T|||||12449|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|13/17|c.*334C>T|||||3038|,T|upstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.-1C>T|||||1207|,T|downstream_gene_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000456128|protein_coding||c.*1133C>T|||||941|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|13/17|n.*1229C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|10/14|n.*970C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|6/7|n.761C>T||||||
22	35734737	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|12/15|c.1180G>A|p.Gly394Ser|1305/2390|1180/1482|394/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|12/15|c.1081G>A|p.Gly361Ser|1232/2317|1081/1383|361/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|12/15|c.1180G>A|p.Gly394Ser|1305/2382|1180/1479|394/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|11/14|c.1045G>A|p.Gly349Ser|1170/2252|1045/1344|349/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|11/14|c.1066G>A|p.Gly356Ser|1165/1953|1066/1365|356/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|14/17|n.*1276G>A|||||16930|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|11/14|n.*1017G>A|||||16760|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|14/17|c.*381G>A|||||7349|,A|downstream_gene_variant|MODIFIER|MIR3909|ENSG00000266320|transcript|ENST00000579518|miRNA||n.*119G>A|||||2986|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|14/17|n.*1276G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|11/14|n.*1017G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000491987|retained_intron|7/7|n.808G>A||||||
22	35741733	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|13/15|c.1240G>C|p.Ala414Pro|1365/2390|1240/1482|414/493||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|13/15|c.1141G>C|p.Ala381Pro|1292/2317|1141/1383|381/460||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|13/15|c.1240G>C|p.Ala414Pro|1365/2382|1240/1479|414/492||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|12/14|c.1105G>C|p.Ala369Pro|1230/2252|1105/1344|369/447||,C|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|12/14|c.1126G>C|p.Ala376Pro|1225/1953|1126/1365|376/454||,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/17|n.*1336G>C|||||23926|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/14|n.*1077G>C|||||23756|,C|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|15/17|c.*441G>C|||||14345|,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|15/17|n.*1336G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|12/14|n.*1077G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|1/3|n.1555G>C||||||
22	35742933	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|14/15|c.1295C>T|p.Ala432Val|1420/2390|1295/1482|432/493||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|14/15|c.1196C>T|p.Ala399Val|1347/2317|1196/1383|399/460||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|14/15|c.1295C>T|p.Ala432Val|1420/2382|1295/1479|432/492||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|13/14|c.1160C>T|p.Ala387Val|1285/2252|1160/1344|387/447||,T|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|13/14|c.1181C>T|p.Ala394Val|1280/1953|1181/1365|394/454||,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|16/17|n.*1391C>T|||||25126|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|13/14|n.*1132C>T|||||24956|,T|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|16/17|c.*496C>T|||||15545|,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|16/17|n.*1391C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|13/14|n.*1132C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|2/3|n.1610C>T||||||
22	35743090	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000411850|protein_coding|15/15|c.1370G>A|p.Arg457Gln|1495/2390|1370/1482|457/493||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000447733|protein_coding|15/15|c.1271G>A|p.Arg424Gln|1422/2317|1271/1383|424/460||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000449058|protein_coding|15/15|c.1367G>A|p.Arg456Gln|1492/2382|1367/1479|456/492||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000425375|protein_coding|14/14|c.1232G>A|p.Arg411Gln|1357/2252|1232/1344|411/447||,A|missense_variant|MODERATE|TOM1|ENSG00000100284|transcript|ENST00000436462|protein_coding|14/14|c.1253G>A|p.Arg418Gln|1352/1953|1253/1365|418/454||,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1463G>A|||||25283|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1204G>A|||||25113|,A|3_prime_UTR_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000382034|protein_coding|17/17|c.*568G>A|||||15702|,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000404284|nonsense_mediated_decay|17/17|n.*1463G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000424387|nonsense_mediated_decay|14/14|n.*1204G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|ENSG00000100284|transcript|ENST00000492723|retained_intron|3/3|n.1682G>A||||||
22	35777185	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|1/5|c.19G>C|p.Asp7His|358/1822|19/867|7/288||,C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|2/4|c.19G>C|p.Asp7His|379/921|19/561|7/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|1/3|n.100G>C||||||
22	35779124	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/5|c.49C>A|p.Leu17Met|388/1822|49/867|17/288||,A|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/4|c.49C>A|p.Leu17Met|409/921|49/561|17/186||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.49C>A||||||,A|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>A|||||3909|,A|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/3|n.263C>A||||||
22	35779162	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|2/5|c.87G>T|p.Glu29Asp|426/1822|87/867|29/288||,T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|3/4|c.87G>T|p.Glu29Asp|447/921|87/561|29/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|2/5|c.87G>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1G>T|||||3871|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|2/3|n.301G>T||||||
22	35782786	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.253C>T|p.Arg85Cys|592/1822|253/867|85/288||,T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.253C>T|p.Arg85Cys|613/921|253/561|85/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1C>T|||||247|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron|3/3|n.467C>T||||||
22	35782990	.	A	C	.	.	ANN=C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.457A>C|p.Lys153Gln|796/1822|457/867|153/288||,C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.457A>C|p.Lys153Gln|817/921|457/561|153/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.457A>C||||||,C|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1A>C|||||43|,C|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>C|||||89|
22	35782991	.	A	T	.	.	ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.458A>T|p.Lys153Ile|797/1822|458/867|153/288||,T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.458A>T|p.Lys153Ile|818/921|458/561|153/186||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.458A>T||||||,T|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1A>T|||||42|,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>T|||||90|
22	35782992	.	A	C	.	.	ANN=C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.459A>C|p.Lys153Asn|798/1822|459/867|153/288||,C|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding|4/4|c.459A>C|p.Lys153Asn|819/921|459/561|153/186||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.459A>C||||||,C|upstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.-1A>C|||||41|,C|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582A>C|||||91|
22	35783110	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.577C>T|p.Pro193Ser|916/1822|577/867|193/288||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.577C>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.577C>T||||||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921C>T|||||16|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582C>T|||||209|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.78C>T||||||
22	35783149	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|3/5|c.616G>T|p.Ala206Ser|955/1822|616/867|206/288||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|4/5|c.616G>T||||||,T|sequence_feature|LOW|HMOX1|ENSG00000100292|helix|ENST00000216117|protein_coding|3/5|c.616G>T||||||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000412893|protein_coding||c.*921G>T|||||55|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000481190|retained_intron||n.*582G>T|||||248|,T|non_coding_exon_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron|1/2|n.117G>T||||||
22	35789464	.	C	G	.	.	ANN=G|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.740C>G|p.Ser247Cys|1079/1822|740/867|247/288||,G|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>G|||||3178|
22	35789560	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.836C>T|p.Ala279Val|1175/1822|836/867|279/288||,T|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>T|||||3274|
22	35789584	.	C	G	.	.	ANN=G|missense_variant|MODERATE|HMOX1|ENSG00000100292|transcript|ENST00000216117|protein_coding|5/5|c.860C>G|p.Ala287Gly|1199/1822|860/867|287/288||,G|downstream_gene_variant|MODIFIER|HMOX1|ENSG00000100292|transcript|ENST00000494998|retained_intron||n.*567C>G|||||3298|
22	35796514	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|2/17|c.83A>C|p.Lys28Thr|237/3534|83/2205|28/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|2/16|c.83A>C|p.Lys28Thr|163/2402|83/2076|28/691||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|2/6|c.83A>C|p.Lys28Thr|130/739|83/692|28/229||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+354A>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-32+23A>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|2/4|n.83A>C||||||
22	35799213	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|3/17|c.181C>T|p.Arg61Trp|335/3534|181/2205|61/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/16|c.181C>T|p.Arg61Trp|261/2402|181/2076|61/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|4/6|c.277C>T|p.Arg93Trp|324/739|277/692|93/229||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|4/4|n.*156C>T|||||1548|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3053C>T||||||,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-298C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay|4/4|n.*156C>T||||||
22	35799447	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/17|c.335G>A|p.Arg112Gln|489/3534|335/2205|112/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/6|c.431G>A|p.Arg144Gln|478/739|431/692|144/229||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>A|||||197|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+121G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3287G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-64G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	35799487	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/17|c.375G>C|p.Gln125His|529/3534|375/2205|125/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/6|c.471G>C|p.Gln157His|518/739|471/692|157/229||WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>C|||||237|,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+161G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3327G>C||||||,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|1/4|c.-31-24G>C||||||WARNING_TRANSCRIPT_INCOMPLETE
22	35799525	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|4/17|c.413G>A|p.Arg138His|567/3534|413/2205|138/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|5/6|c.509G>A|p.Arg170His|556/739|509/692|170/229||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|2/5|c.-17G>A|||||3027|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>A|||||275|,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|3/15|c.294+199G>A||||||,A|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.26+3365G>A||||||
22	35802572	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.450G>C|p.Lys150Asn|604/3534|450/2205|150/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.321G>C|p.Lys107Asn|401/2402|321/2076|107/691||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.546G>C|p.Lys182Asn|593/739|546/692|182/229||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.21G>C|p.Lys7Asn|120/551|21/452|7/149||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1G>C|||||3780|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1G>C|||||3830|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>C|||||4665|,C|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>C|||||4860|,C|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257G>C|||||3322|,C|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2899G>C||||||
22	35802592	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.470C>T|p.Ala157Val|624/3534|470/2205|157/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.341C>T|p.Ala114Val|421/2402|341/2076|114/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.566C>T|p.Ala189Val|613/739|566/692|189/229||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.41C>T|p.Ala14Val|140/551|41/452|14/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3760|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3810|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4645|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4840|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3342|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2879C>T||||||
22	35802621	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.499C>T|p.Arg167Cys|653/3534|499/2205|167/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.370C>T|p.Arg124Cys|450/2402|370/2076|124/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.595C>T|p.Arg199Cys|642/739|595/692|199/229||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.70C>T|p.Arg24Cys|169/551|70/452|24/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3731|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3781|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4616|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4811|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3371|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2850C>T||||||
22	35802661	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.539C>G|p.Thr180Ser|693/3534|539/2205|180/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.410C>G|p.Thr137Ser|490/2402|410/2076|137/691||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.635C>G|p.Thr212Ser|682/739|635/692|212/229||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.110C>G|p.Thr37Ser|209/551|110/452|37/149||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>G|||||3691|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>G|||||3741|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>G|||||4576|,G|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>G|||||4771|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>G|||||3411|,G|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2810C>G||||||
22	35802675	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|5/17|c.553C>T|p.Arg185Cys|707/3534|553/2205|185/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|4/16|c.424C>T|p.Arg142Cys|504/2402|424/2076|142/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding|6/6|c.649C>T|p.Arg217Cys|696/739|649/692|217/229||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|3/5|c.124C>T|p.Arg42Cys|223/551|124/452|42/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1C>T|||||3677|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1C>T|||||3727|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1C>T|||||4562|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1C>T|||||4757|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000451351|nonsense_mediated_decay||n.*257C>T|||||3425|,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-2796C>T||||||
22	35804479	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|6/17|c.675G>T|p.Gln225His|829/3534|675/2205|225/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|5/16|c.546G>T|p.Gln182His|626/2402|546/2076|182/691||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|4/5|c.246G>T|p.Gln82His|345/551|246/452|82/149||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.-1G>T|||||1873|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron||n.-1G>T|||||1923|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>T|||||2758|,T|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>T|||||2953|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739G>T|||||1761|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript|1/1|n.27-992G>T||||||
22	35806756	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|7/17|c.772G>A|p.Val258Ile|926/3534|772/2205|258/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|6/16|c.643G>A|p.Val215Ile|723/2402|643/2076|215/691||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding|5/5|c.343G>A|p.Val115Ile|442/551|343/452|115/149||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.-1G>A|||||481|,A|upstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.-1G>A|||||676|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557G>A|||||755|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000416905|protein_coding||c.*739G>A|||||4038|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|2/5|n.43G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|1/9|n.355G>A||||||
22	35808550	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|8/17|c.967C>T|p.Arg323Cys|1121/3534|967/2205|323/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|7/16|c.838C>T|p.Arg280Cys|918/2402|838/2076|280/691||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557C>T|||||2549|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551C>T|||||1685|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|3/5|n.238C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|2/9|n.550C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|2/4|n.95C>T||||||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|2/6|n.106C>T||||||
22	35809945	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|9/17|c.1169T>G|p.Leu390Arg|1323/3534|1169/2205|390/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|8/16|c.1040T>G|p.Leu347Arg|1120/2402|1040/2076|347/691||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1169T>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1169T>G||||||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000417343|processed_transcript||n.*557T>G|||||3944|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551T>G|||||3080|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|4/5|n.440T>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|3/9|n.752T>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|3/4|n.297T>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|3/6|n.308T>G||||||
22	35811852	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|10/17|c.1234G>A|p.Ala412Thr|1388/3534|1234/2205|412/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|9/16|c.1105G>A|p.Ala369Thr|1185/2402|1105/2076|369/691||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1234G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1234G>A||||||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000444778|protein_coding||c.*551G>A|||||4987|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript|5/5|n.505G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|4/9|n.817G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|4/4|n.362G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|4/6|n.373G>A||||||
22	35811915	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|10/17|c.1297G>A|p.Ala433Thr|1451/3534|1297/2205|433/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|9/16|c.1168G>A|p.Ala390Thr|1248/2402|1168/2076|390/691||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1297G>A||||||,A|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1297G>A||||||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||14|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|4/9|n.880G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript|4/4|n.425G>A||||||,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|4/6|n.436G>A||||||
22	35812342	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|11/17|c.1358A>G|p.Asp453Gly|1512/3534|1358/2205|453/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|10/16|c.1229A>G|p.Asp410Gly|1309/2402|1229/2076|410/691||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1358A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1358A>G||||||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554A>G|||||441|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468A>G|||||384|,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|5/9|n.941A>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|5/6|n.497A>G||||||
22	35812389	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|11/17|c.1405A>G|p.Ile469Val|1559/3534|1405/2205|469/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|10/16|c.1276A>G|p.Ile426Val|1356/2402|1276/2076|426/691||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1405A>G||||||,G|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1405A>G||||||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554A>G|||||488|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468A>G|||||431|,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|5/9|n.988A>G||||||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript|5/6|n.544A>G||||||
22	35812781	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|12/17|c.1564G>T|p.Asp522Tyr|1718/3534|1564/2205|522/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|11/16|c.1435G>T|p.Asp479Tyr|1515/2402|1435/2076|479/691||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|11/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|12/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|13/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|10/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|9/17|c.1564G>T||||||,T|sequence_feature|LOW|MCM5|ENSG00000100297|domain:MCM|ENST00000216122|protein_coding|8/17|c.1564G>T||||||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>T|||||880|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>T|||||823|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>T|||||116|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|6/9|n.1147G>T||||||
22	35813767	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1621G>A|p.Val541Met|1775/3534|1621/2205|541/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1492G>A|p.Val498Met|1572/2402|1492/2076|498/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||1866|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||1809|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||1102|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1204G>A||||||
22	35813772	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1626C>G|p.Ser542Arg|1780/3534|1626/2205|542/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1497C>G|p.Ser499Arg|1577/2402|1497/2076|499/691||,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>G|||||1871|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>G|||||1814|,G|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>G|||||1107|,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1209C>G||||||
22	35813809	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|13/17|c.1663G>A|p.Asp555Asn|1817/3534|1663/2205|555/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|12/16|c.1534G>A|p.Asp512Asn|1614/2402|1534/2076|512/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||1908|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||1851|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||1144|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|7/9|n.1246G>A||||||
22	35815954	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1781G>A|p.Arg594His|1935/3534|1781/2205|594/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1652G>A|p.Arg551His|1732/2402|1652/2076|551/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||4053|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||3996|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||3289|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1364G>A||||||
22	35815978	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1805G>A|p.Arg602His|1959/3534|1805/2205|602/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1676G>A|p.Arg559His|1756/2402|1676/2076|559/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554G>A|||||4077|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468G>A|||||4020|,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||3313|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1388G>A||||||
22	35815980	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|14/17|c.1807C>T|p.Arg603Cys|1961/3534|1807/2205|603/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|13/16|c.1678C>T|p.Arg560Cys|1758/2402|1678/2076|560/691||,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000464908|processed_transcript||n.*554C>T|||||4079|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493569|processed_transcript||n.*468C>T|||||4022|,T|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587C>T|||||3315|,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|8/9|n.1390C>T||||||
22	35817403	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|15/17|c.1925G>A|p.Arg642Gln|2079/3534|1925/2205|642/734||,A|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|14/16|c.1796G>A|p.Arg599Gln|1876/2402|1796/2076|599/691||,A|downstream_gene_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000465557|processed_transcript||n.*587G>A|||||4738|,A|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.1508G>A||||||
22	35819284	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|16/17|c.2053A>G|p.Ile685Val|2207/3534|2053/2205|685/734||,G|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|15/16|c.1924A>G|p.Ile642Val|2004/2402|1924/2076|642/691||,G|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.3389A>G||||||
22	35820175	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|17/17|c.2132T>C|p.Val711Ala|2286/3534|2132/2205|711/734||,C|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|16/16|c.2003T>C|p.Val668Ala|2083/2402|2003/2076|668/691||,C|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.4280T>C||||||
22	35820195	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000216122|protein_coding|17/17|c.2152C>T|p.Arg718Cys|2306/3534|2152/2205|718/734||,T|missense_variant|MODERATE|MCM5|ENSG00000100297|transcript|ENST00000382011|protein_coding|16/16|c.2023C>T|p.Arg675Cys|2103/2402|2023/2076|675/691||,T|non_coding_exon_variant|MODIFIER|MCM5|ENSG00000100297|transcript|ENST00000493076|retained_intron|9/9|n.4300C>T||||||
22	35942878	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RASD2|ENSG00000100302|transcript|ENST00000216127|protein_coding|2/3|c.22G>A|p.Gly8Arg|664/3412|22/801|8/266||
22	36003390	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|4/4|c.419G>A|p.Arg140Gln|591/1170|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|3/3|c.254G>A|p.Arg85Gln|464/1043|254/300|85/99||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|3/3|c.419G>A|p.Arg140Gln|618/1197|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|4/4|c.419G>A|p.Arg140Gln|574/1153|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|4/4|c.419G>A|p.Arg140Gln|511/582|419/465|140/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|4/4|c.419G>A|p.Arg140Gln|638/648|419/429|140/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|4/4|c.419G>A||||||,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding||c.*545G>A|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding||c.*551G>A|||||3541|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding||c.*515G>A|||||3541|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding||c.*418G>A|||||3627|WARNING_TRANSCRIPT_INCOMPLETE
22	36007037	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000359787|protein_coding|3/4|c.212C>A|p.Thr71Asn|384/1170|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000401702|protein_coding|2/3|c.47C>A|p.Thr16Asn|257/1043|47/300|16/99||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397326|protein_coding|2/3|c.212C>A|p.Thr71Asn|411/1197|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000397328|protein_coding|3/4|c.212C>A|p.Thr71Asn|367/1153|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000406324|protein_coding|3/4|c.212C>A|p.Thr71Asn|304/582|212/465|71/154||,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000443033|protein_coding|3/4|c.212C>A|p.Thr71Asn|431/648|212/429|71/142||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000442617|protein_coding|2/3|c.47C>A|p.Thr16Asn|370/545|47/222|16/73||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000451685|protein_coding|3/3|c.212C>A|p.Thr71Asn|445/551|212/318|71/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000447607|protein_coding|4/4|c.212C>A|p.Thr71Asn|409/515|212/318|71/105||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MB|ENSG00000198125|transcript|ENST00000419229|protein_coding|4/4|c.212C>A|p.Thr71Asn|398/418|212/232|71/76||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MB|ENSG00000198125|helix|ENST00000406324|protein_coding|3/4|c.212C>A||||||
22	36054741	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.130A>G|p.Arg44Gly|406/10121|130/1032|44/343||
22	36054846	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.235A>G|p.Met79Val|511/10121|235/1032|79/343||
22	36054862	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.251C>T|p.Thr84Ile|527/10121|251/1032|84/343||
22	36054874	.	C	G	.	.	ANN=G|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.263C>G|p.Ser88Cys|539/10121|263/1032|88/343||
22	36054945	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.334G>A|p.Ala112Thr|610/10121|334/1032|112/343||
22	36054997	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.386C>T|p.Thr129Met|662/10121|386/1032|129/343||
22	36055005	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.394C>T|p.Arg132Cys|670/10121|394/1032|132/343||
22	36055033	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.422G>A|p.Arg141Gln|698/10121|422/1032|141/343||
22	36055036	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.425C>T|p.Ala142Val|701/10121|425/1032|142/343||
22	36055077	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.466G>A|p.Asp156Asn|742/10121|466/1032|156/343||
22	36055130	.	T	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.519T>A|p.Asn173Lys|795/10121|519/1032|173/343||
22	36055141	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.530C>A|p.Thr177Asn|806/10121|530/1032|177/343||
22	36055164	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.553G>A|p.Val185Ile|829/10121|553/1032|185/343||
22	36055218	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.607C>T|p.Arg203Cys|883/10121|607/1032|203/343||
22	36055255	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.644G>A|p.Arg215His|920/10121|644/1032|215/343||
22	36055281	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.670G>A|p.Gly224Arg|946/10121|670/1032|224/343||
22	36055428	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL6|ENSG00000221963|transcript|ENST00000409652|protein_coding|3/3|c.817G>A|p.Ala273Thr|1093/10121|817/1032|273/343||
22	36113928	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|1/5|c.10G>T|p.Gly4Cys|10/1438|10/1302|4/433||
22	36122356	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.241G>A|p.Glu81Lys|241/1438|241/1302|81/433||
22	36122380	.	T	A	.	.	ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.265T>A|p.Ser89Thr|265/1438|265/1302|89/433||
22	36122414	.	A	C	.	.	ANN=C|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.299A>C|p.Lys100Thr|299/1438|299/1302|100/433||
22	36122501	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.386C>A|p.Thr129Asn|386/1438|386/1302|129/433||
22	36122724	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.609C>A|p.Ser203Arg|609/1438|609/1302|203/433||
22	36122751	.	T	G	.	.	ANN=G|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.636T>G|p.His212Gln|636/1438|636/1302|212/433||
22	36122930	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.815C>T|p.Thr272Met|815/1438|815/1302|272/433||
22	36123083	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.968C>T|p.Thr323Met|968/1438|968/1302|323/433||
22	36123178	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.1063A>G|p.Ser355Gly|1063/1438|1063/1302|355/433||
22	36123215	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|3/5|c.1100G>A|p.Arg367Gln|1100/1438|1100/1302|367/433||
22	36124810	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1167G>T|p.Gln389His|1167/1438|1167/1302|389/433||
22	36124833	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1190C>T|p.Ala397Val|1190/1438|1190/1302|397/433||
22	36124860	.	C	G	.	.	ANN=G|missense_variant|MODERATE|APOL5|ENSG00000128313|transcript|ENST00000249044|protein_coding|4/5|c.1217C>G|p.Ser406Cys|1217/1438|1217/1302|406/433||
22	36156071	.	A	C	.	.	ANN=C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|10/14|c.973T>G|p.Leu325Val|973/1356|973/1356|325/451||,C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|9/12|c.760T>G|p.Leu254Val|760/1706|760/1113|254/370||,C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|9/13|c.760T>G|p.Leu254Val|949/1935|760/1143|254/380||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|8/11|c.755-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|7/11|c.698-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|7/11|c.695-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|8/13|c.692-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|8/12|c.752-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|5/9|c.308-4T>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_region_variant&intron_variant|LOW|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|8/8|c.692-4T>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	36164375	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|6/14|c.685G>C|p.Glu229Gln|685/1356|685/1356|229/451||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|5/12|c.475G>C|p.Glu159Gln|844/6932|475/1104|159/367||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|5/12|c.472G>C|p.Glu158Gln|472/1706|472/1113|158/370||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|5/13|c.472G>C|p.Glu158Gln|661/1935|472/1143|158/380||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|4/12|c.418G>C|p.Glu140Gln|607/1538|418/1077|140/358||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|4/12|c.415G>C|p.Glu139Gln|448/1354|415/1074|139/357||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|5/14|c.412G>C|p.Glu138Gln|496/1409|412/1113|138/370||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|5/13|c.472G>C|p.Glu158Gln|538/1254|472/1131|158/376||,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000495377|protein_coding|2/10|c.28G>C|p.Glu10Gln|30/733|28/690|10/229||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|5/9|c.412G>C|p.Glu138Gln|499/789|412/702|138/233||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|6/6|c.541G>C|p.Glu181Gln|603/663|541/601|181/199||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|7/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|4/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|5/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000438146|protein_coding|6/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000438146|protein_coding|6/14|c.685G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|3/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|4/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|5/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000405409|protein_coding|6/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000405409|protein_coding|5/12|c.475G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|3/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|4/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|5/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000414461|protein_coding|6/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000414461|protein_coding|5/12|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|6/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|3/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|4/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000449924|protein_coding|5/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000449924|protein_coding|5/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000262829|protein_coding|4/12|c.418G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|6/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|3/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|4/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|domain:RRM|ENST00000416721|protein_coding|5/13|c.472G>C||||||,G|sequence_feature|LOW|RBFOX2|ENSG00000100320|beta_strand|ENST00000416721|protein_coding|5/13|c.472G>C||||||
22	36205891	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|3/14|c.398G>A|p.Gly133Glu|398/1356|398/1356|133/451||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000405409|protein_coding|2/12|c.188G>A|p.Gly63Glu|557/6932|188/1104|63/367||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000414461|protein_coding|2/12|c.188G>A|p.Gly63Glu|188/1706|188/1113|63/370||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000449924|protein_coding|2/13|c.188G>A|p.Gly63Glu|377/1935|188/1143|63/380||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000262829|protein_coding|2/12|c.188G>A|p.Gly63Glu|377/1538|188/1077|63/358||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000397303|protein_coding|1/12|c.128G>A|p.Gly43Glu|161/1354|128/1074|43/357||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000359369|protein_coding|2/14|c.128G>A|p.Gly43Glu|212/1409|128/1113|43/370||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000416721|protein_coding|2/13|c.188G>A|p.Gly63Glu|254/1254|188/1131|63/376||,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000473487|protein_coding|2/9|c.128G>A|p.Gly43Glu|215/789|128/702|43/233||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000408983|protein_coding|3/6|c.254G>A|p.Gly85Glu|316/663|254/601|85/199||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000397305|protein_coding|3/5|c.128G>A|p.Gly43Glu|503/759|128/384|43/127||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|RBFOX2|ENSG00000100320|transcript|ENST00000491982|retained_intron|2/4|n.373G>A||||||
22	36424450	.	A	C	.	.	ANN=C|missense_variant|MODERATE|RBFOX2|ENSG00000100320|transcript|ENST00000438146|protein_coding|1/14|c.24T>G|p.His8Gln|24/1356|24/1356|8/451||
22	36537292	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.1165C>T|p.Leu389Phe|1203/2117|1165/1209|389/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.952C>T|p.Leu318Phe|1300/2220|952/996|318/331||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.565C>T|p.Leu189Phe|2714/3634|565/609|189/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.565C>T|p.Leu189Phe|2649/3563|565/609|189/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.565C>T|p.Leu189Phe|2712/3626|565/609|189/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*968C>T|||||7828|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1126C>T|||||8102|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1242C>T|||||8102|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101C>T|||||284|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||459|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||472|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||619|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||4239|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||4245|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||4263|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||4300|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*968C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1126C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1242C>T||||||
22	36537327	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.1130G>A|p.Arg377Gln|1168/2117|1130/1209|377/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.917G>A|p.Arg306Gln|1265/2220|917/996|306/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.530G>A|p.Arg177Gln|2679/3634|530/609|177/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.530G>A|p.Arg177Gln|2614/3563|530/609|177/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.530G>A|p.Arg177Gln|2677/3626|530/609|177/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*933G>A|||||7793|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1091G>A|||||8067|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1207G>A|||||8067|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.*101G>A|||||249|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>A|||||424|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||437|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||584|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||4204|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||4210|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||4228|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||4265|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4980|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*933G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*1091G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*1207G>A||||||
22	36537645	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.812G>A|p.Arg271His|850/2117|812/1209|271/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.599G>A|p.Arg200His|947/2220|599/996|200/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.212G>A|p.Arg71His|2361/3634|212/609|71/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.212G>A|p.Arg71His|2296/3563|212/609|71/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.212G>A|p.Arg71His|2359/3626|212/609|71/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*615G>A|||||7475|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*773G>A|||||7749|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*889G>A|||||7749|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*835G>A|||||15396|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>A|||||106|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||119|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||266|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3886|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3892|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3910|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3947|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4662|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*615G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*773G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*889G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*835G>A||||||
22	36537646	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.811C>T|p.Arg271Cys|849/2117|811/1209|271/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.598C>T|p.Arg200Cys|946/2220|598/996|200/331||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.211C>T|p.Arg71Cys|2360/3634|211/609|71/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.211C>T|p.Arg71Cys|2295/3563|211/609|71/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.211C>T|p.Arg71Cys|2358/3626|211/609|71/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*614C>T|||||7474|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*772C>T|||||7748|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*888C>T|||||7748|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*834C>T|||||15395|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576C>T|||||105|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157C>T|||||118|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||265|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3885|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3891|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3909|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3946|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4661|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*614C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*772C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*888C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*834C>T||||||
22	36537736	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.721G>A|p.Glu241Lys|759/2117|721/1209|241/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.508G>A|p.Glu170Lys|856/2220|508/996|170/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.121G>A|p.Glu41Lys|2270/3634|121/609|41/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.121G>A|p.Glu41Lys|2205/3563|121/609|41/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.121G>A|p.Glu41Lys|2268/3626|121/609|41/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*524G>A|||||7384|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*682G>A|||||7658|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*798G>A|||||7658|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*744G>A|||||15305|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.*576G>A|||||15|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||28|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||175|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3795|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3801|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3819|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3856|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4571|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*524G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*682G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*798G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*744G>A||||||
22	36537763	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.694G>A|p.Val232Met|732/2117|694/1209|232/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.481G>A|p.Val161Met|829/2220|481/996|161/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.94G>A|p.Val32Met|2243/3634|94/609|32/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.94G>A|p.Val32Met|2178/3563|94/609|32/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.94G>A|p.Val32Met|2241/3626|94/609|32/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*497G>A|||||7357|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*655G>A|||||7631|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*771G>A|||||7631|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*717G>A|||||15278|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.*157G>A|||||1|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||148|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3768|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3774|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3792|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3829|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4544|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*497G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*655G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*771G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*717G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.564G>A||||||
22	36537775	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.682G>A|p.Ala228Thr|720/2117|682/1209|228/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.469G>A|p.Ala157Thr|817/2220|469/996|157/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.82G>A|p.Ala28Thr|2231/3634|82/609|28/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.82G>A|p.Ala28Thr|2166/3563|82/609|28/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.82G>A|p.Ala28Thr|2229/3626|82/609|28/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*485G>A|||||7345|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*643G>A|||||7619|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*759G>A|||||7619|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*705G>A|||||15266|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*408G>A|||||7345|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||136|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3756|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3762|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3780|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3817|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4532|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*485G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*643G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*759G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*705G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.552G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*408G>A||||||
22	36537798	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.659C>T|p.Thr220Ile|697/2117|659/1209|220/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.446C>T|p.Thr149Ile|794/2220|446/996|149/331||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.59C>T|p.Thr20Ile|2208/3634|59/609|20/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.59C>T|p.Thr20Ile|2143/3563|59/609|20/202||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.59C>T|p.Thr20Ile|2206/3626|59/609|20/202||,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*462C>T|||||7322|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*620C>T|||||7596|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*736C>T|||||7596|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*682C>T|||||15243|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*385C>T|||||7322|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569C>T|||||113|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3733|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3739|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3757|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3794|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4509|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*462C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*620C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*736C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*682C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.529C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*385C>T||||||
22	36537832	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.625G>A|p.Ala209Thr|663/2117|625/1209|209/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.412G>A|p.Ala138Thr|760/2220|412/996|138/331||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.25G>A|p.Ala9Thr|2174/3634|25/609|9/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.25G>A|p.Ala9Thr|2109/3563|25/609|9/202||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.25G>A|p.Ala9Thr|2172/3626|25/609|9/202||,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*428G>A|||||7288|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*586G>A|||||7562|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*702G>A|||||7562|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*648G>A|||||15209|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*351G>A|||||7288|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||79|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3699|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3705|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3723|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3760|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4475|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*428G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*586G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*702G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*648G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.495G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*351G>A||||||
22	36537865	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.592T>C|p.Ser198Pro|630/2117|592/1209|198/402||,G|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.379T>C|p.Ser127Pro|727/2220|379/996|127/331||,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-9T>C|||||9|,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-9T>C|||||9|,G|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-9T>C|||||9|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*395T>C|||||7255|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*553T>C|||||7529|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*669T>C|||||7529|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*615T>C|||||15176|,G|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*318T>C|||||7255|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569T>C|||||46|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157T>C|||||3666|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119T>C|||||3672|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327T>C|||||3690|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477T>C|||||3727|,G|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113T>C|||||4442|,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*395T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*553T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*669T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*615T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.462T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*318T>C||||||
22	36537871	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.586G>A|p.Ala196Thr|624/2117|586/1209|196/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.373G>A|p.Ala125Thr|721/2220|373/996|125/331||,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-15G>A|||||15|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-15G>A|||||15|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-15G>A|||||15|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*389G>A|||||7249|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*547G>A|||||7523|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*663G>A|||||7523|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*609G>A|||||15170|,T|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*312G>A|||||7249|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.*569G>A|||||40|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157G>A|||||3660|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119G>A|||||3666|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327G>A|||||3684|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477G>A|||||3721|,T|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113G>A|||||4436|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*389G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*547G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*663G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*609G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.456G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*312G>A||||||
22	36538053	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|3/3|c.404C>T|p.Ala135Val|442/2117|404/1209|135/402||,A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|4/4|c.191C>T|p.Ala64Val|539/2220|191/996|64/331||,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|4/4|c.-197C>T|||||197|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|4/4|c.-197C>T|||||197|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|5/5|c.-197C>T|||||197|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*207C>T|||||7067|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*365C>T|||||7341|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*481C>T|||||7341|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*427C>T|||||14988|,A|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*130C>T|||||7067|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.*157C>T|||||3478|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.*119C>T|||||3484|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.*327C>T|||||3502|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477C>T|||||3539|,A|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113C>T|||||4254|,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|4/4|n.*207C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|5/5|n.*365C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|4/4|n.*481C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|5/5|n.*427C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|3/3|n.274C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|5/5|n.*130C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript|4/4|n.427C>T||||||
22	36541567	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|2/3|c.304A>G|p.Asn102Asp|342/2117|304/1209|102/402||,C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|3/4|c.91A>G|p.Asn31Asp|439/2220|91/996|31/331||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|3/4|c.-297A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|3/4|c.-297A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|4/5|c.-297A>G||||||,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|3/4|c.-297A>G|||||3711|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|3/4|c.-297A>G|||||3711|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|4/5|c.-297A>G|||||3711|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|3/4|n.*107A>G|||||3553|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|4/5|n.*265A>G|||||3827|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|3/4|n.*381A>G|||||3827|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|4/5|n.*327A>G|||||11474|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|4/4|n.*376A>G|||||3553|,C|3_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|5/5|n.*398A>G|||||7873|,C|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.*477A>G|||||25|,C|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.*113A>G|||||740|,C|downstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.*260A>G|||||3556|,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|3/4|n.*50-20A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|3/4|n.*107A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|4/5|n.*265A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|3/4|n.*381A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|4/5|n.*327A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript|2/3|n.174A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript|3/4|n.327A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|4/4|n.*376A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|5/5|n.*398A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript|3/3|n.315A>G||||||
22	36556729	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.211A>G|p.Arg71Gly|249/2117|211/1209|71/402||,C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.103A>G|p.Arg35Gly|103/295|103/123|35/40||WARNING_TRANSCRIPT_NO_START_CODON,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-100A>G|||||11626|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-390A>G|||||18873|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-390A>G|||||18873|,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-390A>G|||||18873|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1A>G|||||3745|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1A>G|||||3732|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1A>G|||||3796|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1A>G|||||3743|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1A>G|||||3795|,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.211A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.211A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.211A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|1/5|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|1/5|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|1/4|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|1/5|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay|1/3|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay|1/4|n.73A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript|1/2|n.75A>G||||||
22	36556780	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.160G>A|p.Val54Met|198/2117|160/1209|54/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.52G>A|p.Val18Met|52/295|52/123|18/40||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-151G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-441G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-441G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-441G>A||||||,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-151G>A|||||11677|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|2/4|c.-441G>A|||||18924|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-441G>A|||||18924|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-441G>A|||||18924|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1G>A|||||3796|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1G>A|||||3783|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1G>A|||||3847|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1G>A|||||3794|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1G>A|||||3846|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay|1/5|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay|1/5|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay|1/4|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay|1/5|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay|1/3|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay|1/4|n.22G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript|1/2|n.24G>A||||||
22	36556823	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.117C>A|p.Ser39Arg|155/2117|117/1209|39/402||,T|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding|1/2|c.9C>A|p.Ser3Arg|9/295|9/123|3/40||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-4C>A||||||,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-194C>A|||||11720|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-484C>A|||||18967|,T|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-484C>A|||||18967|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1C>A|||||3839|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2C>A|||||21|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1C>A|||||3826|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2C>A|||||21|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1C>A|||||3890|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1C>A|||||3837|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3C>A|||||20|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1C>A|||||3889|,T|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1C>A|||||20|,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.117C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.117C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.117C>A||||||
22	36556836	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.104G>T|p.Gly35Val|142/2117|104/1209|35/402||,A|splice_region_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-497G>T||||||,A|splice_region_variant|LOW|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-497G>T||||||,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-207G>T|||||11733|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|2/4|c.-497G>T|||||18980|,A|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|3/5|c.-497G>T|||||18980|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1G>T|||||3852|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2G>T|||||34|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1G>T|||||3839|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2G>T|||||34|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1G>T|||||3903|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1G>T|||||3850|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3G>T|||||33|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding||c.-1G>T|||||5|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1G>T|||||3902|,A|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1G>T|||||33|,A|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-17G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.104G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.104G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.104G>T||||||
22	36556864	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOL3|ENSG00000128284|transcript|ENST00000349314|protein_coding|1/3|c.76A>G|p.Thr26Ala|114/2117|76/1209|26/402||,C|5_prime_UTR_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397293|protein_coding|1/4|c.-235A>G|||||11761|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487355|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487423|processed_transcript||n.-1A>G|||||3880|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000426939|nonsense_mediated_decay||n.-2A>G|||||62|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000534251|processed_transcript||n.-1A>G|||||3867|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531195|nonsense_mediated_decay||n.-2A>G|||||62|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000487783|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000525184|processed_transcript||n.-1A>G|||||3931|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000485453|processed_transcript||n.-1A>G|||||3878|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000530895|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000472303|nonsense_mediated_decay||n.-3A>G|||||61|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000531095|protein_coding||c.-1A>G|||||33|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000528740|processed_transcript||n.-1A>G|||||3930|,C|upstream_gene_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000533061|processed_transcript||n.-1A>G|||||61|,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000424878|protein_coding|1/3|c.-480-45A>G||||||,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000361710|protein_coding|1/3|c.-498-27A>G||||||,C|intron_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397287|protein_coding|2/4|c.-498-27A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000397289|nonsense_mediated_decay|1/4|n.76A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000422426|nonsense_mediated_decay|1/5|n.76A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|ENSG00000128284|transcript|ENST00000432700|nonsense_mediated_decay|1/4|n.76A>G||||||
22	36623731	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.1069A>G|p.Ile357Val|1078/1421|1069/1350|357/449||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.733A>G|p.Ile245Val|1069/2544|733/1014|245/337||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.733A>G|p.Ile245Val|1210/2685|733/1014|245/337||,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611A>G|||||347|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577A>G|||||510|WARNING_TRANSCRIPT_INCOMPLETE
22	36623902	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.898G>A|p.Gly300Ser|907/1421|898/1350|300/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.562G>A|p.Gly188Ser|898/2544|562/1014|188/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.562G>A|p.Gly188Ser|1039/2685|562/1014|188/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||176|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||339|WARNING_TRANSCRIPT_INCOMPLETE
22	36623920	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.880C>T|p.Arg294Cys|889/1421|880/1350|294/449||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.544C>T|p.Arg182Cys|880/2544|544/1014|182/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.544C>T|p.Arg182Cys|1021/2685|544/1014|182/337||,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611C>T|||||158|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577C>T|||||321|WARNING_TRANSCRIPT_INCOMPLETE
22	36623931	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.869G>A|p.Arg290Gln|878/1421|869/1350|290/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.533G>A|p.Arg178Gln|869/2544|533/1014|178/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.533G>A|p.Arg178Gln|1010/2685|533/1014|178/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||147|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||310|WARNING_TRANSCRIPT_INCOMPLETE
22	36623956	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.844G>A|p.Glu282Lys|853/1421|844/1350|282/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.508G>A|p.Glu170Lys|844/2544|508/1014|170/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.508G>A|p.Glu170Lys|985/2685|508/1014|170/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||122|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||285|WARNING_TRANSCRIPT_INCOMPLETE
22	36623980	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.820G>A|p.Ala274Thr|829/1421|820/1350|274/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.484G>A|p.Ala162Thr|820/2544|484/1014|162/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.484G>A|p.Ala162Thr|961/2685|484/1014|162/337||,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding||c.*611G>A|||||98|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||261|WARNING_TRANSCRIPT_INCOMPLETE
22	36624123	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.677C>T|p.Thr226Ile|686/1421|677/1350|226/449||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.341C>T|p.Thr114Ile|677/2544|341/1014|114/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.341C>T|p.Thr114Ile|818/2685|341/1014|114/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|5/5|c.341C>T|p.Thr114Ile|566/611|341/386|114/127||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577C>T|||||118|WARNING_TRANSCRIPT_INCOMPLETE
22	36624231	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.569G>A|p.Arg190Lys|578/1421|569/1350|190/449||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.233G>A|p.Arg78Lys|569/2544|233/1014|78/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.233G>A|p.Arg78Lys|710/2685|233/1014|78/337||,T|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|5/5|c.233G>A|p.Arg78Lys|458/611|233/386|78/127||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding||c.*577G>A|||||10|WARNING_TRANSCRIPT_INCOMPLETE
22	36624310	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|6/6|c.490C>T|p.Leu164Phe|499/1421|490/1350|164/449||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|5/5|c.154C>T|p.Leu52Phe|490/2544|154/1014|52/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|6/6|c.154C>T|p.Leu52Phe|631/2685|154/1014|52/337||,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|5/5|c.154C>T|p.Leu52Phe|379/611|154/386|52/127||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|6/6|c.154C>T|p.Leu52Phe|508/577|154/223|52/73||WARNING_TRANSCRIPT_INCOMPLETE
22	36627504	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|5/6|c.355A>G|p.Ile119Val|364/1421|355/1350|119/449||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|4/5|c.19A>G|p.Ile7Val|355/2544|19/1014|7/337||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|5/6|c.19A>G|p.Ile7Val|496/2685|19/1014|7/337||,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|4/5|c.19A>G|p.Ile7Val|244/611|19/386|7/127||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|5/6|c.19A>G|p.Ile7Val|373/577|19/223|7/73||WARNING_TRANSCRIPT_INCOMPLETE
22	36629223	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOL2|ENSG00000128335|transcript|ENST00000451256|protein_coding|4/6|c.322C>G|p.Pro108Ala|331/1421|322/1350|108/449||,C|TF_binding_site_variant|LOW|||SP1|MA0079.1|||||||||,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000358502|protein_coding|3/5|c.-15C>G|||||15|,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000249066|protein_coding|4/6|c.-15C>G|||||15|,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000529194|protein_coding|3/5|c.-15C>G|||||15|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000454728|protein_coding|4/6|c.-15C>G|||||15|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000476579|processed_transcript||n.*583C>G|||||3708|,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000489186|processed_transcript||n.*579C>G|||||3750|,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000473549|processed_transcript||n.*579C>G|||||3756|,C|downstream_gene_variant|MODIFIER|APOL2|ENSG00000128335|transcript|ENST00000484830|processed_transcript||n.*527C>G|||||3787|
22	36650951	.	A	C	.	.	ANN=C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|3/6|c.37A>C|p.Thr13Pro|249/566|37/354|13/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|2/6|c.-51A>C|||||51|,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|2/6|c.-51A>C|||||51|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|2/6|c.-51A>C|||||51|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|2/7|c.-51A>C|||||51|,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|2/6|c.30-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|1/5|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|1/4|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|1/5|n.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|2/4|n.242-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|1/4|n.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+1686A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|1/6|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|1/5|n.-19-32A>C||||||
22	36653143	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|4/7|c.107T>C|p.Phe36Ser|374/3000|107/1245|36/414||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|3/6|c.59T>C|p.Phe20Ser|288/2918|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|3/6|c.59T>C|p.Phe20Ser|266/2901|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding|4/6|c.146T>C|p.Phe49Ser|358/566|146/354|49/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|3/6|c.59T>C|p.Phe20Ser|204/624|59/479|20/158||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|3/7|c.59T>C|p.Phe20Ser|157/1564|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding|3/6|c.59T>C|p.Phe20Ser|176/541|59/424|20/140||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|3/7|c.59T>C|p.Phe20Ser|176/1033|59/426|20/141||,C|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|2/7|c.59T>C||||||,C|sequence_feature|LOW|APOL1|ENSG00000100342|signal_peptide|ENST00000397279|protein_coding|3/7|c.59T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|2/4|c.45-222T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|2/4|n.45-222T>C||||||,C|intron_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|1/2|c.-177+3878T>C||||||,C|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay|3/6|n.59T>C||||||,C|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron|4/5|n.319T>C||||||,C|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay|3/6|n.59T>C||||||
22	36657740	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|6/7|c.334G>A|p.Gly112Arg|601/3000|334/1245|112/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|5/6|c.286G>A|p.Gly96Arg|515/2918|286/1197|96/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|5/6|c.286G>A|p.Gly96Arg|493/2901|286/1197|96/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|4/5|c.232G>A|p.Gly78Arg|400/2808|232/1143|78/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|5/6|c.286G>A|p.Gly96Arg|431/624|286/479|96/158||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|5/7|c.286G>A|p.Gly96Arg|384/1564|286/1197|96/398||,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|2/3|c.-78G>A|||||3506|,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|5/5|n.*48G>A|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|6/7|c.*48G>A|||||48|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||21|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000475519|retained_intron||n.*600G>A|||||4134|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||19|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||61|,A|non_coding_exon_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay|5/5|n.*48G>A||||||
22	36661222	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.388G>A|p.Ala130Thr|655/3000|388/1245|130/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.340G>A|p.Ala114Thr|569/2918|340/1197|114/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.340G>A|p.Ala114Thr|547/2901|340/1197|114/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.286G>A|p.Ala96Thr|454/2808|286/1143|96/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.340G>A|p.Ala114Thr|485/624|340/479|114/158||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.340G>A|p.Ala114Thr|438/1564|340/1197|114/398||,A|5_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.-24G>A|||||24|,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*102G>A|||||3530|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3503|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3501|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3477|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3532|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3543|
22	36661330	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.496G>A|p.Glu166Lys|763/3000|496/1245|166/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.448G>A|p.Glu150Lys|677/2918|448/1197|150/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.448G>A|p.Glu150Lys|655/2901|448/1197|150/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.394G>A|p.Glu132Lys|562/2808|394/1143|132/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.448G>A|p.Glu150Lys|593/624|448/479|150/158||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.85G>A|p.Glu29Lys|346/1223|85/834|29/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.448G>A|p.Glu150Lys|546/1564|448/1197|150/398||,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*210G>A|||||3638|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3611|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3609|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3585|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3651|
22	36661354	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.520C>T|p.Leu174Phe|787/3000|520/1245|174/414||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.472C>T|p.Leu158Phe|701/2918|472/1197|158/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.472C>T|p.Leu158Phe|679/2901|472/1197|158/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.418C>T|p.Leu140Phe|586/2808|418/1143|140/380||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding|6/6|c.472C>T|p.Leu158Phe|617/624|472/479|158/158||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.109C>T|p.Leu37Phe|370/1223|109/834|37/277||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.472C>T|p.Leu158Phe|570/1564|472/1197|158/398||,T|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*234C>T|||||3662|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||3635|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||3633|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||3609|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||3664|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||3675|
22	36661409	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.575A>G|p.Asn192Ser|842/3000|575/1245|192/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.527A>G|p.Asn176Ser|756/2918|527/1197|176/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.527A>G|p.Asn176Ser|734/2901|527/1197|176/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.473A>G|p.Asn158Ser|641/2808|473/1143|158/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.164A>G|p.Asn55Ser|425/1223|164/834|55/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.527A>G|p.Asn176Ser|625/1564|527/1197|176/398||,G|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*289A>G|||||3717|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||3690|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||3688|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||3664|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624A>G|||||48|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||3719|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||3730|
22	36661566	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.732G>A|p.Met244Ile|999/3000|732/1245|244/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.684G>A|p.Met228Ile|913/2918|684/1197|228/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.684G>A|p.Met228Ile|891/2901|684/1197|228/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.630G>A|p.Met210Ile|798/2808|630/1143|210/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.321G>A|p.Met107Ile|582/1223|321/834|107/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.684G>A|p.Met228Ile|782/1564|684/1197|228/398||,A|3_prime_UTR_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding|7/7|c.*446G>A|||||3874|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3847|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3845|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3821|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||205|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3876|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3887|
22	36661646	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.812G>A|p.Arg271Lys|1079/3000|812/1245|271/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.764G>A|p.Arg255Lys|993/2918|764/1197|255/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.764G>A|p.Arg255Lys|971/2901|764/1197|255/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.710G>A|p.Arg237Lys|878/2808|710/1143|237/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.401G>A|p.Arg134Lys|662/1223|401/834|134/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.764G>A|p.Arg255Lys|862/1564|764/1197|255/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3927|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3925|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3901|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||285|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||3956|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||36|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||3967|
22	36661649	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.815A>G|p.Glu272Gly|1082/3000|815/1245|272/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.767A>G|p.Glu256Gly|996/2918|767/1197|256/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.767A>G|p.Glu256Gly|974/2901|767/1197|256/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.713A>G|p.Glu238Gly|881/2808|713/1143|238/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.404A>G|p.Glu135Gly|665/1223|404/834|135/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.767A>G|p.Glu256Gly|865/1564|767/1197|256/398||,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||3930|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||3928|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||3904|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624A>G|||||288|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||3959|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543A>G|||||39|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||3970|
22	36661674	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.840C>A|p.Asn280Lys|1107/3000|840/1245|280/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.792C>A|p.Asn264Lys|1021/2918|792/1197|264/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.792C>A|p.Asn264Lys|999/2901|792/1197|264/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.738C>A|p.Asn246Lys|906/2808|738/1143|246/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.429C>A|p.Asn143Lys|690/1223|429/834|143/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.792C>A|p.Asn264Lys|890/1564|792/1197|264/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>A|||||3955|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>A|||||3953|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>A|||||3929|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>A|||||313|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>A|||||3984|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>A|||||64|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>A|||||3995|
22	36661691	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.857G>A|p.Gly286Asp|1124/3000|857/1245|286/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.809G>A|p.Gly270Asp|1038/2918|809/1197|270/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.809G>A|p.Gly270Asp|1016/2901|809/1197|270/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.755G>A|p.Gly252Asp|923/2808|755/1143|252/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.446G>A|p.Gly149Asp|707/1223|446/834|149/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.809G>A|p.Gly270Asp|907/1564|809/1197|270/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||3972|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||3970|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3946|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||330|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4001|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||81|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4012|
22	36661733	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.899G>A|p.Arg300His|1166/3000|899/1245|300/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.851G>A|p.Arg284His|1080/2918|851/1197|284/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.851G>A|p.Arg284His|1058/2901|851/1197|284/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.797G>A|p.Arg266His|965/2808|797/1143|266/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.488G>A|p.Arg163His|749/1223|488/834|163/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.851G>A|p.Arg284His|949/1564|851/1197|284/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4014|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4012|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||3988|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||372|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4043|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||123|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4054|
22	36661891	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1057G>A|p.Asp353Asn|1324/3000|1057/1245|353/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1009G>A|p.Asp337Asn|1238/2918|1009/1197|337/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1009G>A|p.Asp337Asn|1216/2901|1009/1197|337/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.955G>A|p.Asp319Asn|1123/2808|955/1143|319/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.646G>A|p.Asp216Asn|907/1223|646/834|216/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1009G>A|p.Asp337Asn|1107/1564|1009/1197|337/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534G>A|||||4172|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566G>A|||||4170|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478G>A|||||4146|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624G>A|||||530|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541G>A|||||4201|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543G>A|||||281|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504G>A|||||4212|
22	36661906	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1072A>G|p.Ser358Gly|1339/3000|1072/1245|358/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1024A>G|p.Ser342Gly|1253/2918|1024/1197|342/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1024A>G|p.Ser342Gly|1231/2901|1024/1197|342/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.970A>G|p.Ser324Gly|1138/2808|970/1143|324/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.661A>G|p.Ser221Gly|922/1223|661/834|221/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1024A>G|p.Ser342Gly|1122/1564|1024/1197|342/398||,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534A>G|||||4187|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566A>G|||||4185|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478A>G|||||4161|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624A>G|||||545|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541A>G|||||4216|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543A>G|||||296|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504A>G|||||4227|
22	36662063	.	C	A,G,T	.	.	ANN=A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1229C>A|p.Ala410Glu|1496/3000|1229/1245|410/414||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1229C>G|p.Ala410Gly|1496/3000|1229/1245|410/414||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000319136|protein_coding|7/7|c.1229C>T|p.Ala410Val|1496/3000|1229/1245|410/414||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1181C>A|p.Ala394Glu|1410/2918|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1181C>G|p.Ala394Gly|1410/2918|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397278|protein_coding|6/6|c.1181C>T|p.Ala394Val|1410/2918|1181/1197|394/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1181C>A|p.Ala394Glu|1388/2901|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1181C>G|p.Ala394Gly|1388/2901|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000422706|protein_coding|6/6|c.1181C>T|p.Ala394Val|1388/2901|1181/1197|394/398||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1127C>A|p.Ala376Glu|1295/2808|1127/1143|376/380||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1127C>G|p.Ala376Gly|1295/2808|1127/1143|376/380||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000426053|protein_coding|5/5|c.1127C>T|p.Ala376Val|1295/2808|1127/1143|376/380||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.818C>A|p.Ala273Glu|1079/1223|818/834|273/277||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.818C>G|p.Ala273Gly|1079/1223|818/834|273/277||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000347595|protein_coding|3/3|c.818C>T|p.Ala273Val|1079/1223|818/834|273/277||,A|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1181C>A|p.Ala394Glu|1279/1564|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1181C>G|p.Ala394Gly|1279/1564|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|ENSG00000100342|transcript|ENST00000397279|protein_coding|6/7|c.1181C>T|p.Ala394Val|1279/1564|1181/1197|394/398||,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>A|||||4344|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>G|||||4344|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000422471|nonsense_mediated_decay||n.*534C>T|||||4344|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>A|||||4342|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>G|||||4342|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000438034|protein_coding||c.*566C>T|||||4342|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>A|||||4318|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>G|||||4318|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000439680|nonsense_mediated_decay||n.*478C>T|||||4318|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>A|||||702|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>G|||||702|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000427990|protein_coding||c.*624C>T|||||702|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>A|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>G|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000433768|protein_coding||c.*541C>T|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>A|||||453|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>G|||||453|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000440669|protein_coding||c.*543C>T|||||453|,A|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>A|||||4384|,G|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>G|||||4384|,T|downstream_gene_variant|MODIFIER|APOL1|ENSG00000100342|transcript|ENST00000431184|nonsense_mediated_decay||n.*504C>T|||||4384|
22	36678779	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.5818G>A|p.Gly1940Arg|6049/7501|5818/5883|1940/1960||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768G>A|||||1429|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788G>A|||||1481|
22	36678782	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|41/41|c.5815G>A|p.Ala1939Thr|6046/7501|5815/5883|1939/1960||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.*768G>A|||||1426|,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.*788G>A|||||1478|
22	36681327	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|38/41|c.5323A>G|p.Lys1775Glu|5554/7501|5323/5883|1775/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5323A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5323A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|3/5|n.353A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|3/4|n.330A>G||||||
22	36681918	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|36/41|c.5143G>A|p.Gly1715Ser|5374/7501|5143/5883|1715/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.5143G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.5143G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript|1/5|n.173G>A||||||,T|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron|1/4|n.150G>A||||||
22	36682873	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|35/41|c.4952T>C|p.Met1651Thr|5183/7501|4952/5883|1651/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4952T>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4952T>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1T>C|||||783|,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1T>C|||||806|
22	36684354	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|34/41|c.4876A>G|p.Ile1626Val|5107/7501|4876/5883|1626/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4876A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4876A>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1A>G|||||2264|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1A>G|||||2287|
22	36684817	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|33/41|c.4726C>T|p.Arg1576Trp|4957/7501|4726/5883|1576/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4726C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4726C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||2727|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||2750|
22	36685177	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4511C>T|p.Thr1504Met|4742/7501|4511/5883|1504/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4511C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4511C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||3087|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||3110|
22	36685292	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4396C>T|p.Arg1466Trp|4627/7501|4396/5883|1466/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4396C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4396C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1C>T|||||3202|,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1C>T|||||3225|
22	36685297	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|32/41|c.4391G>A|p.Arg1464His|4622/7501|4391/5883|1464/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4391G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4391G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000475726|processed_transcript||n.-1G>A|||||3207|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000486218|retained_intron||n.-1G>A|||||3230|
22	36688157	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4219G>A|p.Ala1407Thr|4450/7501|4219/5883|1407/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4219G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4219G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||3401|
22	36688178	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4198C>T|p.Arg1400Trp|4429/7501|4198/5883|1400/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4198C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4198C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||3380|
22	36688226	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4150G>C|p.Glu1384Gln|4381/7501|4150/5883|1384/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4150G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4150G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>C|||||3332|
22	36688253	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4123G>C|p.Asp1375His|4354/7501|4123/5883|1375/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4123G>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4123G>C||||||,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>C|||||3305|
22	36688257	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|31/41|c.4119G>A|p.Met1373Ile|4350/7501|4119/5883|1373/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.4119G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.4119G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||3301|
22	36689833	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|29/41|c.3914C>T|p.Ala1305Val|4145/7501|3914/5883|1305/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3914C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3914C>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>T|||||1725|
22	36690189	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|28/41|c.3786C>A|p.Asn1262Lys|4017/7501|3786/5883|1262/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3786C>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3786C>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>A|||||1369|
22	36691016	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|27/41|c.3592G>A|p.Val1198Met|3823/7501|3592/5883|1198/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3592G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3592G>A||||||,T|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687G>A|||||542|
22	36691054	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|27/41|c.3554C>G|p.Ala1185Gly|3785/7501|3554/5883|1185/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3554C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3554C>G||||||,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.*687C>G|||||504|
22	36692980	.	T	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|25/41|c.3181A>T|p.Ser1061Cys|3412/7501|3181/5883|1061/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.3181A>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.3181A>T||||||,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.*329A>T|||||3976|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron|1/2|n.390A>T||||||
22	36697100	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|22/41|c.2635A>C|p.Met879Leu|2866/7501|2635/5883|879/1960||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2635A>C||||||,G|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2635A>C||||||,G|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1A>C|||||3731|,G|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400A>C|||||1254|,G|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|2/2|n.185A>C||||||
22	36697620	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|21/41|c.2591C>T|p.Ala864Val|2822/7501|2591/5883|864/1960||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|36/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|39/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|35/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|25/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|26/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|34/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|22/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|38/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|41/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|24/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|32/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|21/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|29/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|37/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|31/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|33/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|30/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|27/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|40/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|28/41|c.2591C>T||||||,A|sequence_feature|LOW|MYH9|ENSG00000100345|coiled-coil_region|ENST00000216181|protein_coding|23/41|c.2591C>T||||||,A|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000459960|retained_intron||n.-1C>T|||||4251|,A|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.*400C>T|||||734|,A|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript|1/2|n.141C>T||||||
22	36700087	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|19/41|c.2344G>A|p.Val782Ile|2575/7501|2344/5883|782/1960||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:IQ|ENST00000216181|protein_coding|20/41|c.2344G>A||||||,T|sequence_feature|LOW|MYH9|ENSG00000100345|domain:IQ|ENST00000216181|protein_coding|19/41|c.2344G>A||||||,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1G>A|||||2327|,T|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1G>A|||||16|
22	36702032	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|17/41|c.2103C>G|p.Ile701Met|2334/7501|2103/5883|701/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.2103C>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.2103C>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000495928|processed_transcript||n.-1C>G|||||4272|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000473022|retained_intron||n.-1C>G|||||1961|
22	36716349	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|9/41|c.928A>G|p.Ile310Val|1159/7501|928/5883|310/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.928A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.928A>G||||||,C|upstream_gene_variant|MODIFIER|RN7SL349P|ENSG00000266345|transcript|ENST00000582364|misc_RNA||n.-1A>G|||||4103|,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1A>G|||||469|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743A>G|||||4729|,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|3/3|n.324A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|7/7|n.532A>G||||||
22	36717851	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|7/41|c.721A>G|p.Ile241Val|952/7501|721/5883|241/1960||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|13/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|5/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|9/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|6/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|18/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|11/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|3/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|16/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|8/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|4/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|17/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|14/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|7/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|10/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|12/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|2/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|15/41|c.721A>G||||||,C|sequence_feature|LOW|MYH9|ENSG00000100345|domain:Myosin_motor|ENST00000216181|protein_coding|19/41|c.721A>G||||||,C|upstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000477189|retained_intron||n.-1A>G|||||1971|,C|downstream_gene_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding||c.*743A>G|||||3227|,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000472210|processed_transcript|1/3|n.117A>G||||||,C|non_coding_exon_variant|MODIFIER|MYH9|ENSG00000100345|transcript|ENST00000463027|processed_transcript|5/7|n.325A>G||||||
22	36745146	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.136C>T|p.Leu46Phe|367/7501|136/5883|46/1960||,A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.136C>T|p.Leu46Phe|222/789|136/657|46/218||,A|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.136C>T|p.Leu46Phe|276/449|136/309|46/102||WARNING_TRANSCRIPT_NO_STOP_CODON
22	36745275	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000216181|protein_coding|2/41|c.7C>G|p.Gln3Glu|238/7501|7/5883|3/1960||,C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000401701|protein_coding|2/6|c.7C>G|p.Gln3Glu|93/789|7/657|3/218||,C|missense_variant|MODERATE|MYH9|ENSG00000100345|transcript|ENST00000456729|protein_coding|3/3|c.7C>G|p.Gln3Glu|147/449|7/309|3/102||WARNING_TRANSCRIPT_NO_STOP_CODON
22	36872818	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|3/4|c.349G>A|p.Asp117Asn|816/1736|349/501|117/166||,T|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|3/4|c.43G>A|p.Asp15Asn|370/1280|43/195|15/64||,T|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|3/4|c.349G>A|p.Asp117Asn|547/912|349/501|117/166||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|3/4|c.349G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|2/4|c.349G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|domain:Thioredoxin|ENST00000403313|protein_coding|4/4|c.349G>A||||||,T|sequence_feature|LOW|TXN2|ENSG00000100348|beta_strand|ENST00000403313|protein_coding|3/4|c.349G>A||||||,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|3/4|n.329G>A||||||,T|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|3/5|n.349G>A||||||
22	36876729	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000216185|protein_coding|2/4|c.156A>G|p.Ile52Met|623/1736|156/501|52/166||,C|missense_variant|MODERATE|TXN2|ENSG00000100348|transcript|ENST00000403313|protein_coding|2/4|c.156A>G|p.Ile52Met|354/912|156/501|52/166||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|2/4|c.-151A>G||||||,C|sequence_feature|LOW|TXN2|ENSG00000100348|transit_peptide:Mitochondrion|ENST00000403313|protein_coding|2/4|c.156A>G||||||,C|5_prime_UTR_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000416967|protein_coding|2/4|c.-151A>G|||||3869|,C|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000487725|processed_transcript|2/4|n.136A>G||||||,C|non_coding_exon_variant|MODIFIER|TXN2|ENSG00000100348|transcript|ENST00000411915|nonsense_mediated_decay|2/5|n.156A>G||||||
22	36886078	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.2032G>A|p.Asp678Asn|2144/3933|2032/2055|678/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.2032G>A|p.Asp678Asn|2126/4967|2032/2055|678/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.688G>A|p.Asp230Asn|1057/2489|688/711|230/236||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.2032G>A|p.Asp678Asn|2140/2184|2032/2055|678/684||
22	36886199	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1911G>C|p.Glu637Asp|2023/3933|1911/2055|637/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1911G>C|p.Glu637Asp|2005/4967|1911/2055|637/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.567G>C|p.Glu189Asp|936/2489|567/711|189/236||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1911G>C|p.Glu637Asp|2019/2184|1911/2055|637/684||
22	36886288	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|9/9|c.1822C>T|p.Arg608Cys|1934/3933|1822/2055|608/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|9/9|c.1822C>T|p.Arg608Cys|1916/4967|1822/2055|608/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|4/4|c.478C>T|p.Arg160Cys|847/2489|478/711|160/236||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|8/8|c.1822C>T|p.Arg608Cys|1930/2184|1822/2055|608/684||
22	36892103	.	A	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1535T>G|p.Phe512Cys|1647/3933|1535/2055|512/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1535T>G|p.Phe512Cys|1629/4967|1535/2055|512/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.191T>G|p.Phe64Cys|560/2489|191/711|64/236||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1535T>G|p.Phe512Cys|1643/2184|1535/2055|512/684||
22	36892134	.	T	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1504A>T|p.Asn502Tyr|1616/3933|1504/2055|502/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1504A>T|p.Asn502Tyr|1598/4967|1504/2055|502/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.160A>T|p.Asn54Tyr|529/2489|160/711|54/236||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1504A>T|p.Asn502Tyr|1612/2184|1504/2055|502/684||
22	36892240	.	A	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|7/9|c.1398T>G|p.Phe466Leu|1510/3933|1398/2055|466/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|7/9|c.1398T>G|p.Phe466Leu|1492/4967|1398/2055|466/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|2/4|c.54T>G|p.Phe18Leu|423/2489|54/711|18/236||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|6/8|c.1398T>G|p.Phe466Leu|1506/2184|1398/2055|466/684||
22	36894054	.	C	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/9|c.1366G>T|p.Val456Phe|1478/3933|1366/2055|456/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/9|c.1366G>T|p.Val456Phe|1460/4967|1366/2055|456/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.22G>T|p.Val8Phe|391/2489|22/711|8/236||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/8|c.1366G>T|p.Val456Phe|1474/2184|1366/2055|456/684||
22	36894133	.	G	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/9|c.1287C>G|p.Ile429Met|1399/3933|1287/2055|429/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/9|c.1287C>G|p.Ile429Met|1381/4967|1287/2055|429/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/8|c.1287C>G|p.Ile429Met|1395/2184|1287/2055|429/684||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-58C>G||||||,C|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-58C>G|||||58|
22	36894162	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|6/9|c.1258G>A|p.Val420Ile|1370/3933|1258/2055|420/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|6/9|c.1258G>A|p.Val420Ile|1352/4967|1258/2055|420/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|5/8|c.1258G>A|p.Val420Ile|1366/2184|1258/2055|420/684||,T|5_prime_UTR_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding|1/4|c.-87G>A|||||87|
22	36897341	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1163C>T|p.Ser388Leu|1275/3933|1163/2055|388/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1163C>T|p.Ser388Leu|1257/4967|1163/2055|388/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1163C>T|p.Ser388Leu|1271/2184|1163/2055|388/684||,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370C>T|||||2897|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||4870|WARNING_TRANSCRIPT_INCOMPLETE
22	36897383	.	T	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1121A>G|p.Lys374Arg|1233/3933|1121/2055|374/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1121A>G|p.Lys374Arg|1215/4967|1121/2055|374/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1121A>G|p.Lys374Arg|1229/2184|1121/2055|374/684||,C|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370A>G|||||2939|,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||4828|WARNING_TRANSCRIPT_INCOMPLETE
22	36897410	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|5/9|c.1094C>T|p.Pro365Leu|1206/3933|1094/2055|365/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|5/9|c.1094C>T|p.Pro365Leu|1188/4967|1094/2055|365/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|4/8|c.1094C>T|p.Pro365Leu|1202/2184|1094/2055|365/684||,A|upstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000366463|protein_coding||c.-370C>T|||||2966|,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>T|||||4801|WARNING_TRANSCRIPT_INCOMPLETE
22	36900186	.	G	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|4/9|c.1008C>G|p.Ile336Met|1120/3933|1008/2055|336/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|4/9|c.1008C>G|p.Ile336Met|1102/4967|1008/2055|336/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|3/8|c.1008C>G|p.Ile336Met|1116/2184|1008/2055|336/684||,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567C>G|||||2025|WARNING_TRANSCRIPT_INCOMPLETE
22	36900271	.	T	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|4/9|c.923A>G|p.Asn308Ser|1035/3933|923/2055|308/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|4/9|c.923A>G|p.Asn308Ser|1017/4967|923/2055|308/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|3/8|c.923A>G|p.Asn308Ser|1031/2184|923/2055|308/684||,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||1940|WARNING_TRANSCRIPT_INCOMPLETE
22	36900679	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.662G>A|p.Arg221His|774/3933|662/2055|221/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.662G>A|p.Arg221His|756/4967|662/2055|221/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.662G>A|p.Arg221His|770/2184|662/2055|221/684||,T|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>A|||||1532|WARNING_TRANSCRIPT_INCOMPLETE
22	36900695	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.646G>A|p.Val216Met|758/3933|646/2055|216/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.646G>A|p.Val216Met|740/4967|646/2055|216/684||,T|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.646G>A|p.Val216Met|754/2184|646/2055|216/684||,T|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>A|||||1516|WARNING_TRANSCRIPT_INCOMPLETE
22	36900774	.	C	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.567G>T|p.Gln189His|679/3933|567/2055|189/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.567G>T|p.Gln189His|661/4967|567/2055|189/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.567G>T|p.Gln189His|675/2184|567/2055|189/684||,A|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>T|||||1437|WARNING_TRANSCRIPT_INCOMPLETE
22	36900806	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|3/9|c.535T>C|p.Phe179Leu|647/3933|535/2055|179/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|3/9|c.535T>C|p.Phe179Leu|629/4967|535/2055|179/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|2/8|c.535T>C|p.Phe179Leu|643/2184|535/2055|179/684||,G|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567T>C|||||1405|WARNING_TRANSCRIPT_INCOMPLETE
22	36901985	.	T	C	.	.	ANN=C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.485A>G|p.Tyr162Cys|597/3933|485/2055|162/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.485A>G|p.Tyr162Cys|579/4967|485/2055|162/684||,C|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.485A>G|p.Tyr162Cys|593/2184|485/2055|162/684||,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018A>G|||||4912|,C|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567A>G|||||226|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452A>G|||||4918|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601A>G|||||4919|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887A>G|||||4930|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763A>G|||||4961|
22	36902031	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.439G>C|p.Ala147Pro|551/3933|439/2055|147/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.439G>C|p.Ala147Pro|533/4967|439/2055|147/684||,G|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.439G>C|p.Ala147Pro|547/2184|439/2055|147/684||,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018G>C|||||4866|,G|downstream_gene_variant|MODIFIER|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding||c.*567G>C|||||180|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452G>C|||||4872|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601G>C|||||4873|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887G>C|||||4884|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763G>C|||||4915|
22	36902259	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000216187|protein_coding|2/9|c.211C>T|p.Arg71Cys|323/3933|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397224|protein_coding|2/9|c.211C>T|p.Arg71Cys|305/4967|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000397223|protein_coding|1/8|c.211C>T|p.Arg71Cys|319/2184|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|ENSG00000100350|transcript|ENST00000423980|protein_coding|2/2|c.211C>T|p.Arg71Cys|519/567|211/259|71/85||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding||c.*2018C>T|||||4638|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.*452C>T|||||4644|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding||c.*1601C>T|||||4645|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.*887C>T|||||4656|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding||c.*1763C>T|||||4687|
22	36912623	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|12/15|c.1108G>C|p.Asp370His|1479/2155|1108/1647|370/548||,G|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|11/14|c.961G>C|p.Asp321His|1062/1731|961/1500|321/499||,G|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|12/15|c.1108G>C|p.Asp370His|1224/1851|1108/1647|370/548||,G|3_prime_UTR_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/7|n.*240G>C|||||847|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000478547|processed_transcript||n.-1G>C|||||4935|,G|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462641|retained_intron||n.-1G>C|||||3647|,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding||c.*996G>C|||||2237|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729G>C|||||4057|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron|2/4|n.259G>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|5/7|n.*240G>C||||||,G|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron|2/2|n.251G>C||||||
22	36915503	.	G	C	.	.	ANN=C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|8/15|c.660C>G|p.Ile220Met|1031/2155|660/1647|220/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|7/14|c.513C>G|p.Ile171Met|614/1731|513/1500|171/499||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|8/15|c.660C>G|p.Ile220Met|776/1851|660/1647|220/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|9/10|c.660C>G|p.Ile220Met|847/996|660/809|220/268||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1C>G|||||2525|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1C>G|||||2533|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729C>G|||||1177|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678C>G|||||3659|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581C>G|||||4460|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay|1/7|n.45C>G||||||
22	36916648	.	A	C	.	.	ANN=C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|7/15|c.553T>G|p.Leu185Val|924/2155|553/1647|185/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|6/14|c.406T>G|p.Leu136Val|507/1731|406/1500|136/499||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|7/15|c.553T>G|p.Leu185Val|669/1851|553/1647|185/548||,C|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|8/10|c.553T>G|p.Leu185Val|740/996|553/809|185/268||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000426531|retained_intron||n.-1T>G|||||3670|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2T>G|||||1100|,C|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000462794|retained_intron||n.-1T>G|||||3678|,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding||c.*729T>G|||||32|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding||c.*678T>G|||||2514|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581T>G|||||3315|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604T>G|||||4094|
22	36919242	.	T	A	.	.	ANN=A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|6/6|c.479A>T|p.Tyr160Phe|598/678|479/559|160/185||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000458572|nonsense_mediated_decay||n.-2A>T|||||3694|,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding||c.*581A>T|||||721|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604A>T|||||1500|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|6/14|c.465+14A>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|5/13|c.318+14A>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|6/14|c.465+14A>T||||||,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|7/9|c.465+14A>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|6/6|c.465+14A>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	36920692	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000216190|protein_coding|4/15|c.257C>T|p.Ala86Val|628/2155|257/1647|86/548||,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000405442|protein_coding|4/15|c.257C>T|p.Ala86Val|373/1851|257/1647|86/548||,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000455547|protein_coding|5/10|c.257C>T|p.Ala86Val|444/996|257/809|86/268||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000457241|protein_coding|4/7|c.257C>T|p.Ala86Val|465/729|257/521|86/172||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000432675|protein_coding|4/6|c.257C>T|p.Ala86Val|376/678|257/559|86/185||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|EIF3D|ENSG00000100353|transcript|ENST00000402116|protein_coding|4/5|c.257C>T|p.Ala86Val|467/581|257/371|86/122||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000496875|retained_intron||n.*604C>T|||||50|,A|intron_variant|MODIFIER|EIF3D|ENSG00000100353|transcript|ENST00000541106|protein_coding|3/13|c.162-667C>T||||||
22	36960589	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CACNG2|ENSG00000166862|transcript|ENST00000300105|protein_coding|4/4|c.781A>C|p.Asn261His|1763/2384|781/972|261/323||,G|upstream_gene_variant|MODIFIER|RP5-1119A7.17|ENSG00000261675|transcript|ENST00000562756|sense_overlapping||n.-1A>C|||||1627|
22	37158985	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/7|c.425C>T|p.Ala142Val|846/1090|425/561|142/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/7|c.422C>T|p.Ala141Val|868/1113|422/558|141/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/7|c.302C>T|p.Ala101Val|439/683|302/438|101/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|7/7|c.542C>T|p.Ala181Val|938/946|542/550|181/182||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||2034|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||1839|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531C>T|||||978|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||1055|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||4122|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/4|n.508C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/7|n.347C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1745C>T||||||
22	37158995	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/7|c.415C>T|p.Arg139Trp|836/1090|415/561|139/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/7|c.412C>T|p.Arg138Trp|858/1113|412/558|138/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/7|c.292C>T|p.Arg98Trp|429/683|292/438|98/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|7/7|c.532C>T|p.Arg178Trp|928/946|532/550|178/182||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||2044|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||1849|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531C>T|||||968|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||1045|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||4112|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/4|n.498C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/7|n.337C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1735C>T||||||
22	37159036	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|6/7|c.374C>T|p.Thr125Ile|795/1090|374/561|125/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|6/7|c.371C>T|p.Thr124Ile|817/1113|371/558|124/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|6/7|c.251C>T|p.Thr84Ile|388/683|251/438|84/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|7/7|c.491C>T|p.Thr164Ile|887/946|491/550|164/182||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000433985|protein_coding|6/7|c.374C>T||||||,A|sequence_feature|LOW|IFT27|ENSG00000100360|nucleotide_phosphate-binding_region:GTP|ENST00000340630|protein_coding|6/7|c.371C>T||||||,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||2085|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||1890|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding||c.*531C>T|||||927|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||1004|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||4071|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|3/4|n.457C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|5/7|n.296C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.1694C>T||||||
22	37159993	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|5/7|c.322C>T|p.Arg108Trp|743/1090|322/561|108/186||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|5/7|c.319C>T|p.Arg107Trp|765/1113|319/558|107/185||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|5/7|c.199C>T|p.Arg67Trp|336/683|199/438|67/145||,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|6/7|c.439C>T|p.Arg147Trp|835/946|439/550|147/182||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|6/6|c.319C>T|p.Arg107Trp|501/531|319/349|107/115||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1C>T|||||3042|,A|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1C>T|||||2847|,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding||c.*813C>T|||||47|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406C>T|||||3114|,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|2/4|n.405C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|4/7|n.244C>T||||||,A|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.737C>T||||||
22	37160049	.	T	C	.	.	ANN=C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|5/7|c.266A>G|p.Tyr89Cys|687/1090|266/561|89/186||,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|5/7|c.263A>G|p.Tyr88Cys|709/1113|263/558|88/185||,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|5/7|c.143A>G|p.Tyr48Cys|280/683|143/438|48/145||,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|6/7|c.383A>G|p.Tyr128Cys|779/946|383/550|128/182||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|6/6|c.263A>G|p.Tyr88Cys|445/531|263/349|88/115||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|5/5|c.143A>G|p.Tyr48Cys|804/813|143/152|48/49||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495987|processed_transcript||n.-1A>G|||||3098|,C|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000474616|processed_transcript||n.-1A>G|||||2903|,C|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron||n.*406A>G|||||3058|,C|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron|2/4|n.349A>G||||||,C|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay|4/7|n.188A>G||||||,C|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|5/5|n.681A>G||||||
22	37163864	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000433985|protein_coding|2/7|c.77G>A|p.Arg26His|498/1090|77/561|26/186||,T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000340630|protein_coding|2/7|c.74G>A|p.Arg25His|520/1113|74/558|25/185||,T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000417951|protein_coding|3/7|c.194G>A|p.Arg65His|590/946|194/550|65/182||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IFT27|ENSG00000100360|transcript|ENST00000430701|protein_coding|3/6|c.74G>A|p.Arg25His|256/531|74/349|25/115||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000453009|protein_coding|2/7|c.-47G>A|||||464|,T|5_prime_UTR_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000440696|protein_coding|2/5|c.-47G>A|||||464|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000495555|retained_intron||n.-1G>A|||||1366|,T|upstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000415653|nonsense_mediated_decay||n.-2G>A|||||1|,T|downstream_gene_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000476548|processed_transcript||n.*902G>A|||||4583|,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000471809|retained_intron|2/5|n.492G>A||||||,T|non_coding_exon_variant|MODIFIER|IFT27|ENSG00000100360|transcript|ENST00000465023|retained_intron|2/3|n.66G>A||||||
22	37211219	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000216200|protein_coding|3/5|c.122C>T|p.Ala41Val|178/595|122/333|41/110||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000417718|protein_coding|2/4|c.122C>T|p.Ala41Val|152/569|122/333|41/110||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000406910|protein_coding|2/5|c.116C>T|p.Ala39Val|118/568|116/318|39/105||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000404171|protein_coding|2/4|c.26C>T|p.Ala9Val|88/422|26/237|9/78||,A|missense_variant|MODERATE|PVALB|ENSG00000100362|transcript|ENST00000443735|protein_coding|3/4|c.122C>T|p.Ala41Val|288/470|122/304|41/100||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|2/4|c.122C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|domain:EF-hand_1|ENST00000417718|protein_coding|3/4|c.122C>T||||||,A|sequence_feature|LOW|PVALB|ENSG00000100362|helix|ENST00000417718|protein_coding|2/4|c.122C>T||||||,A|upstream_gene_variant|MODIFIER|CITF22-24E5.1|ENSG00000234979|transcript|ENST00000417792|antisense||n.-1G>A|||||1151|,A|non_coding_exon_variant|MODIFIER|PVALB|ENSG00000100362|transcript|ENST00000467935|retained_intron|2/3|n.152C>T||||||
22	37261015	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.172C>T|p.Arg58Cys|356/1641|172/1047|58/348||,T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.172C>T|p.Arg58Cys|356/1396|172/1020|58/339||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-138C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000397147|protein_coding|3/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000397147|protein_coding|3/9|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|3/10|c.172C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000248899|protein_coding|3/10|c.172C>T||||||,T|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-138C>T|||||2457|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5120G>A||||||,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5120G>A||||||
22	37261021	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.178C>T|p.Arg60Cys|362/1641|178/1047|60/348||,T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.178C>T|p.Arg60Cys|362/1396|178/1020|60/339||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-132C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000397147|protein_coding|3/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000397147|protein_coding|3/9|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|region_of_interest:Phosphatidylinositol_3-phosphate_binding|ENST00000248899|protein_coding|3/10|c.178C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|helix|ENST00000248899|protein_coding|3/10|c.178C>T||||||,T|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-132C>T|||||2451|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5114G>A||||||,T|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5114G>A||||||
22	37261097	.	C	A	.	.	ANN=A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|3/9|c.254C>A|p.Thr85Asn|438/1641|254/1047|85/348||,A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|3/10|c.254C>A|p.Thr85Asn|438/1396|254/1020|85/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|4/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|5/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|2/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000397147|protein_coding|3/9|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|4/10|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|5/10|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|2/10|c.254C>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:PX|ENST00000248899|protein_coding|3/10|c.254C>A||||||,A|5_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|2/7|c.-56C>A|||||2375|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense|1/1|n.349+5038G>T||||||,A|intron_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense|1/1|n.288+5038G>T||||||
22	37266572	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|5/9|c.458G>A|p.Arg153His|642/1641|458/1047|153/348||,A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding|4/7|c.149G>A|p.Arg50His|557/906|149/498|50/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|5/10|c.458G>A|p.Arg153His|642/1396|458/1020|153/339||,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000330602|antisense||n.-1C>T|||||89|,A|upstream_gene_variant|MODIFIER|CTA-833B7.2|ENSG00000183822|transcript|ENST00000431290|antisense||n.-1C>T|||||150|,A|upstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding||c.-2G>A|||||1607|WARNING_TRANSCRIPT_NO_START_CODON
22	37271882	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.815T>C|p.Leu272Pro|999/1641|815/1047|272/348||,C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.404T>C|p.Leu135Pro|405/796|404/636|135/211||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.758+57T>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|9/10|c.758+57T>C||||||,C|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906T>C|||||8|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/9|c.758+57T>C||||||
22	37271906	.	G	C	.	.	ANN=C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.839G>C|p.Gly280Ala|1023/1641|839/1047|280/348||,C|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.428G>C|p.Gly143Ala|429/796|428/636|143/211||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.758+81G>C||||||,C|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|9/10|c.758+81G>C||||||,C|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>C|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/9|c.758+81G>C||||||
22	37272023	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|8/9|c.956C>T|p.Pro319Leu|1140/1641|956/1047|319/348||,T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|3/4|c.545C>T|p.Pro182Leu|546/796|545/636|182/211||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|8/10|c.759-48C>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|beta_strand|ENST00000248899|protein_coding|9/10|c.759-48C>T||||||,T|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906C>T|||||149|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|8/9|c.759-48C>T||||||
22	37273724	.	T	A	.	.	ANN=A|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.879T>A|p.Asp293Glu|1063/1396|879/1020|293/339||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.879T>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.879T>A||||||,A|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.879T>A||||||,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*77T>A|||||1610|,A|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*77T>A|||||1610|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906T>A|||||1850|WARNING_TRANSCRIPT_NO_STOP_CODON
22	37273779	.	G	T	.	.	ANN=T|missense_variant|MODERATE|NCF4|ENSG00000100365|transcript|ENST00000248899|protein_coding|10/10|c.934G>T|p.Gly312Cys|1118/1396|934/1020|312/339||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|10/10|c.934G>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|8/10|c.934G>T||||||,T|sequence_feature|LOW|NCF4|ENSG00000100365|domain:OPR|ENST00000248899|protein_coding|9/10|c.934G>T||||||,T|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000397147|protein_coding|9/9|c.*132G>T|||||1665|,T|3_prime_UTR_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000415063|protein_coding|4/4|c.*132G>T|||||1665|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|NCF4|ENSG00000100365|transcript|ENST00000447071|protein_coding||c.*906G>T|||||1905|WARNING_TRANSCRIPT_NO_STOP_CODON
22	37318309	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|2/14|c.60C>A|p.Ser20Arg|277/4866|60/2712|20/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|2/14|c.60C>A|p.Ser20Arg|282/4863|60/2694|20/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|1/13|c.60C>A|p.Ser20Arg|134/2895|60/2712|20/903||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.60C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.60C>A||||||,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.-284C>A|||||345|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39C>A|||||1490|
22	37319397	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|3/14|c.188G>T|p.Arg63Leu|405/4866|188/2712|63/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|3/14|c.188G>T|p.Arg63Leu|410/4863|188/2694|63/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|2/13|c.188G>T|p.Arg63Leu|262/2895|188/2712|63/903||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|3/14|c.188G>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|2/13|c.188G>T||||||,T|5_prime_UTR_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|2/7|c.-53G>T|||||2672|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding||c.-39G>T|||||402|
22	37322192	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|4/14|c.364C>T|p.Arg122Trp|581/4866|364/2712|122/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|4/14|c.364C>T|p.Arg122Trp|586/4863|364/2694|122/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|3/13|c.364C>T|p.Arg122Trp|438/2895|364/2712|122/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|3/7|c.124C>T|p.Arg42Trp|407/969|124/686|42/227||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|2/12|c.187C>T|p.Arg63Trp|225/2765|187/2535|63/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|4/14|c.364C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|3/13|c.364C>T||||||
22	37325703	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|6/14|c.572A>G|p.Asn191Ser|789/4866|572/2712|191/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|6/14|c.572A>G|p.Asn191Ser|794/4863|572/2694|191/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|5/13|c.572A>G|p.Asn191Ser|646/2895|572/2712|191/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|5/7|c.332A>G|p.Asn111Ser|615/969|332/686|111/227||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|4/12|c.395A>G|p.Asn132Ser|433/2765|395/2535|132/844||,G|sequence_feature|MODERATE|CSF2RB|ENSG00000100368|glycosylation_site:N-linked__GlcNAc..._|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|MODERATE|CSF2RB|ENSG00000100368|glycosylation_site:N-linked__GlcNAc..._|ENST00000406230|protein_coding|5/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|7/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|5/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|6/14|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|6/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|4/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_1|ENST00000406230|protein_coding|5/13|c.572A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|5/13|c.572A>G||||||
22	37326443	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|7/14|c.745G>C|p.Glu249Gln|962/4866|745/2712|249/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|7/14|c.745G>C|p.Glu249Gln|967/4863|745/2694|249/897||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|6/13|c.745G>C|p.Glu249Gln|819/2895|745/2712|249/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|6/7|c.505G>C|p.Glu169Gln|788/969|505/686|169/227||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|5/12|c.568G>C|p.Glu190Gln|606/2765|568/2535|190/844||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|7/14|c.745G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|6/13|c.745G>C||||||
22	37326749	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|8/14|c.907C>G|p.Leu303Val|1124/4866|907/2712|303/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|8/14|c.889C>G|p.Leu297Val|1111/4863|889/2694|297/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|7/13|c.907C>G|p.Leu303Val|981/2895|907/2712|303/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding|7/7|c.649C>G|p.Leu217Val|932/969|649/686|217/227||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|6/12|c.730C>G|p.Leu244Val|768/2765|730/2535|244/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000403662|protein_coding|8/14|c.889C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|disulfide_bond|ENST00000406230|protein_coding|7/13|c.907C>G||||||
22	37326794	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|8/14|c.952G>A|p.Asp318Asn|1169/4866|952/2712|318/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|8/14|c.934G>A|p.Asp312Asn|1156/4863|934/2694|312/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|7/13|c.952G>A|p.Asp318Asn|1026/2895|952/2712|318/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|6/12|c.775G>A|p.Asp259Asn|813/2765|775/2535|259/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.934G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.934G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||8|WARNING_TRANSCRIPT_INCOMPLETE
22	37328890	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/14|c.1114G>A|p.Glu372Lys|1331/4866|1114/2712|372/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/14|c.1096G>A|p.Glu366Lys|1318/4863|1096/2694|366/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/13|c.1114G>A|p.Glu372Lys|1188/2895|1114/2712|372/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/12|c.937G>A|p.Glu313Lys|975/2765|937/2535|313/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000403662|protein_coding|9/14|c.1096G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1114G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1114G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|beta_strand|ENST00000406230|protein_coding|8/13|c.1114G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||2104|WARNING_TRANSCRIPT_INCOMPLETE
22	37328901	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|9/14|c.1125C>G|p.Asp375Glu|1342/4866|1125/2712|375/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|9/14|c.1107C>G|p.Asp369Glu|1329/4863|1107/2694|369/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|8/13|c.1125C>G|p.Asp375Glu|1199/2895|1125/2712|375/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|7/12|c.948C>G|p.Asp316Glu|986/2765|948/2535|316/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1107C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1125C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1125C>G||||||,G|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>G|||||2115|WARNING_TRANSCRIPT_INCOMPLETE
22	37330000	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|10/14|c.1297G>A|p.Glu433Lys|1514/4866|1297/2712|433/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|10/14|c.1279G>A|p.Glu427Lys|1501/4863|1279/2694|427/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|9/13|c.1297G>A|p.Glu433Lys|1371/2895|1297/2712|433/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|8/12|c.1120G>A|p.Glu374Lys|1158/2765|1120/2535|374/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|8/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|11/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|2/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|3/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|10/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|9/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|4/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|7/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|5/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Extracellular|ENST00000403662|protein_coding|6/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|10/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000403662|protein_coding|9/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|short_sequence_motif:WSXWS_motif|ENST00000403662|protein_coding|10/14|c.1279G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|9/13|c.1297G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|domain:Fibronectin_type-III_2|ENST00000406230|protein_coding|8/13|c.1297G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|short_sequence_motif:WSXWS_motif|ENST00000406230|protein_coding|9/13|c.1297G>A||||||,A|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969G>A|||||3214|WARNING_TRANSCRIPT_INCOMPLETE
22	37331455	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|11/14|c.1396C>G|p.Leu466Val|1613/4866|1396/2712|466/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|11/14|c.1378C>G|p.Leu460Val|1600/4863|1378/2694|460/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|10/13|c.1396C>G|p.Leu466Val|1470/2895|1396/2712|466/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|9/12|c.1219C>G|p.Leu407Val|1257/2765|1219/2535|407/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|transmembrane_region:Transmembrane_region|ENST00000403662|protein_coding|11/14|c.1378C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|transmembrane_region:Transmembrane_region|ENST00000406230|protein_coding|10/13|c.1396C>G||||||,G|downstream_gene_variant|MODIFIER|CSF2RB|ENSG00000100368|transcript|ENST00000421539|protein_coding||c.*969C>G|||||4669|WARNING_TRANSCRIPT_INCOMPLETE
22	37332649	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|13/14|c.1541C>A|p.Pro514His|1758/4866|1541/2712|514/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|13/14|c.1523C>A|p.Pro508His|1745/4863|1523/2694|508/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|12/13|c.1541C>A|p.Pro514His|1615/2895|1541/2712|514/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|11/12|c.1364C>A|p.Pro455His|1402/2765|1364/2535|455/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1523C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1541C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1541C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1541C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1541C>A||||||
22	37333443	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1611C>G|p.Asp537Glu|1828/4866|1611/2712|537/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1593C>G|p.Asp531Glu|1815/4863|1593/2694|531/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1611C>G|p.Asp537Glu|1685/2895|1611/2712|537/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1434C>G|p.Asp478Glu|1472/2765|1434/2535|478/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1593C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1611C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1611C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1611C>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1611C>G||||||
22	37333606	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1774A>G|p.Ser592Gly|1991/4866|1774/2712|592/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1756A>G|p.Ser586Gly|1978/4863|1756/2694|586/897||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1774A>G|p.Ser592Gly|1848/2895|1774/2712|592/903||,G|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1597A>G|p.Ser533Gly|1635/2765|1597/2535|533/844||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1756A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1774A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1774A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1774A>G||||||,G|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1774A>G||||||
22	37333657	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1825C>A|p.Pro609Thr|2042/4866|1825/2712|609/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1807C>A|p.Pro603Thr|2029/4863|1807/2694|603/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1825C>A|p.Pro609Thr|1899/2895|1825/2712|609/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1648C>A|p.Pro550Thr|1686/2765|1648/2535|550/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1807C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1825C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1825C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1825C>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1825C>A||||||
22	37333676	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1844C>T|p.Pro615Leu|2061/4866|1844/2712|615/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1826C>T|p.Pro609Leu|2048/4863|1826/2694|609/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1844C>T|p.Pro615Leu|1918/2895|1844/2712|615/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1667C>T|p.Pro556Leu|1705/2765|1667/2535|556/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1826C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1844C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1844C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1844C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1844C>T||||||
22	37333804	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.1972G>A|p.Val658Met|2189/4866|1972/2712|658/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.1954G>A|p.Val652Met|2176/4863|1954/2694|652/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.1972G>A|p.Val658Met|2046/2895|1972/2712|658/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1795G>A|p.Val599Met|1833/2765|1795/2535|599/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.1954G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.1972G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.1972G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.1972G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.1972G>A||||||
22	37333900	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2068G>C|p.Gly690Arg|2285/4866|2068/2712|690/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2050G>C|p.Gly684Arg|2272/4863|2050/2694|684/897||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2068G>C|p.Gly690Arg|2142/2895|2068/2712|690/903||,C|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1891G>C|p.Gly631Arg|1929/2765|1891/2535|631/844||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2050G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2068G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2068G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2068G>C||||||,C|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2068G>C||||||
22	37333936	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2104C>T|p.Pro702Ser|2321/4866|2104/2712|702/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2086C>T|p.Pro696Ser|2308/4863|2086/2694|696/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2104C>T|p.Pro702Ser|2178/2895|2104/2712|702/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.1927C>T|p.Pro643Ser|1965/2765|1927/2535|643/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2086C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2104C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2104C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2104C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2104C>T||||||
22	37334375	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2543C>T|p.Pro848Leu|2760/4866|2543/2712|848/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2525C>T|p.Pro842Leu|2747/4863|2525/2694|842/897||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2543C>T|p.Pro848Leu|2617/2895|2543/2712|848/903||,T|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2366C>T|p.Pro789Leu|2404/2765|2366/2535|789/844||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2525C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2543C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2543C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2543C>T||||||,T|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2543C>T||||||
22	37334383	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000262825|protein_coding|14/14|c.2551G>A|p.Gly851Ser|2768/4866|2551/2712|851/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000403662|protein_coding|14/14|c.2533G>A|p.Gly845Ser|2755/4863|2533/2694|845/897||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000406230|protein_coding|13/13|c.2551G>A|p.Gly851Ser|2625/2895|2551/2712|851/903||,A|missense_variant|MODERATE|CSF2RB|ENSG00000100368|transcript|ENST00000536485|protein_coding|12/12|c.2374G>A|p.Gly792Ser|2412/2765|2374/2535|792/844||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|11/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|13/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|14/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000403662|protein_coding|12/14|c.2533G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|10/13|c.2551G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|12/13|c.2551G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|11/13|c.2551G>A||||||,A|sequence_feature|LOW|CSF2RB|ENSG00000100368|topological_domain:Cytoplasmic|ENST00000406230|protein_coding|13/13|c.2551G>A||||||
22	37387226	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|6/6|c.837G>C|p.Lys279Asn|949/978|837/843|279/280||,G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|4/4|c.411G>C|p.Lys137Asn|412/475|411/417|137/138||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|6/6|c.582G>C|p.Lys194Asn|926/986|582/588|194/195||,G|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|7/7|c.837G>C|p.Lys279Asn|1089/1149|837/843|279/280||
22	37387257	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|6/6|c.806A>G|p.Tyr269Cys|918/978|806/843|269/280||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|4/4|c.380A>G|p.Tyr127Cys|381/475|380/417|127/138||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|6/6|c.551A>G|p.Tyr184Cys|895/986|551/588|184/195||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|7/7|c.806A>G|p.Tyr269Cys|1058/1149|806/843|269/280||
22	37395935	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|4/6|c.580G>A|p.Val194Ile|692/978|580/843|194/280||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|2/4|c.154G>A|p.Val52Ile|155/475|154/417|52/138||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|4/6|c.325G>A|p.Val109Ile|669/986|325/588|109/195||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|5/7|c.580G>A|p.Val194Ile|832/1149|580/843|194/280||
22	37397934	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.433A>G|p.Asn145Asp|545/978|433/843|145/280||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.178A>G|p.Asn60Asp|522/986|178/588|60/195||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.433A>G|p.Asn145Asp|685/1149|433/843|145/280||,C|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+300A>G||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37397942	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.425T>G|p.Ile142Ser|537/978|425/843|142/280||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.170T>G|p.Ile57Ser|514/986|170/588|57/195||,C|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.425T>G|p.Ile142Ser|677/1149|425/843|142/280||,C|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+292T>G||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37397996	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.371G>A|p.Ser124Asn|483/978|371/843|124/280||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.116G>A|p.Ser39Asn|460/986|116/588|39/195||,T|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.371G>A|p.Ser124Asn|623/1149|371/843|124/280||,T|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+238G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37398011	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.356C>T|p.Thr119Met|468/978|356/843|119/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.101C>T|p.Thr34Met|445/986|101/588|34/195||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.356C>T|p.Thr119Met|608/1149|356/843|119/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+223C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37398041	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.326C>T|p.Ser109Leu|438/978|326/843|109/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.71C>T|p.Ser24Leu|415/986|71/588|24/195||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.326C>T|p.Ser109Leu|578/1149|326/843|109/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+193C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37398062	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.305C>T|p.Ser102Leu|417/978|305/843|102/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.50C>T|p.Ser17Leu|394/986|50/588|17/195||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.305C>T|p.Ser102Leu|557/1149|305/843|102/280||,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+172C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37398140	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding|3/6|c.227C>T|p.Pro76Leu|339/978|227/843|76/280||,A|missense_variant|MODERATE|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding|4/7|c.227C>T|p.Pro76Leu|479/1149|227/843|76/280||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.-29C>T||||||,A|5_prime_UTR_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding|3/6|c.-29C>T|||||29|,A|intron_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000442538|protein_coding|1/3|c.63+94C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	37407084	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.878A>G|p.Lys293Arg|1027/1211|878/894|293/297||,C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.878A>G|p.Lys293Arg|1613/1797|878/894|293/297||,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113A>G|||||3241|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1T>C|||||2182|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345A>G|||||3245|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253A>G|||||3202|
22	37407100	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.862C>T|p.Arg288Cys|1011/1211|862/894|288/297||,A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.862C>T|p.Arg288Cys|1597/1797|862/894|288/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.862C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.862C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3257|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||2166|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3261|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3218|
22	37407109	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.853C>G|p.Pro285Ala|1002/1211|853/894|285/297||,C|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.853C>G|p.Pro285Ala|1588/1797|853/894|285/297||,C|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.853C>G||||||,C|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.853C>G||||||,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>G|||||3266|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>C|||||2157|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>G|||||3270|,C|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>G|||||3227|
22	37407216	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.746G>A|p.Arg249His|895/1211|746/894|249/297||,T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.746G>A|p.Arg249His|1481/1797|746/894|249/297||,T|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.746G>A||||||,T|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.746G>A||||||,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113G>A|||||3373|,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1C>T|||||2050|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345G>A|||||3377|,T|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253G>A|||||3334|
22	37407346	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|3/3|c.616C>T|p.Arg206Cys|765/1211|616/894|206/297||,A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|2/2|c.616C>T|p.Arg206Cys|1351/1797|616/894|206/297||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|2/3|c.616C>T||||||,A|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_2|ENST00000249042|protein_coding|3/3|c.616C>T||||||,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000381821|protein_coding||c.-113C>T|||||3503|,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.-1G>A|||||1920|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000402860|protein_coding||c.-345C>T|||||3507|,A|upstream_gene_variant|MODIFIER|TEX33|ENSG00000185264|transcript|ENST00000405091|protein_coding||c.-253C>T|||||3464|
22	37414298	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.476G>A|p.Arg159His|625/1211|476/894|159/297||,T|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.476G>A|p.Arg159His|1211/1797|476/894|159/297||,T|sequence_feature|LOW|TST|ENSG00000128311|region_of_interest:Hinge|ENST00000249042|protein_coding|2/3|c.476G>A||||||,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177C>T|||||1404|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165C>T|||||1378|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280C>T|||||1439|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306C>T|||||1511|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130C>T|||||1511|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28C>T|||||1515|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1C>T|||||1541|,T|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916C>T|||||4780|,T|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.*95C>T|||||4938|,T|downstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.*451G>A|||||104|WARNING_TRANSCRIPT_NO_STOP_CODON
22	37414326	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.448C>T|p.Pro150Ser|597/1211|448/894|150/297||,A|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.448C>T|p.Pro150Ser|1183/1797|448/894|150/297||,A|sequence_feature|LOW|TST|ENSG00000128311|region_of_interest:Hinge|ENST00000249042|protein_coding|2/3|c.448C>T||||||,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177G>A|||||1376|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165G>A|||||1350|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280G>A|||||1411|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306G>A|||||1483|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130G>A|||||1483|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28G>A|||||1487|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1G>A|||||1513|,A|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916G>A|||||4752|,A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000252412|transcript|ENST00000516603|misc_RNA||n.*95G>A|||||4966|,A|downstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.*451C>T|||||76|WARNING_TRANSCRIPT_NO_STOP_CODON
22	37414468	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding|2/3|c.306A>C|p.Glu102Asp|455/1211|306/894|102/297||,G|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding|1/2|c.306A>C|p.Glu102Asp|1041/1797|306/894|102/297||,G|missense_variant|MODERATE|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding|2/2|c.306A>C|p.Glu102Asp|385/451|306/372|102/123||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TST|ENSG00000128311|domain:Rhodanese_1|ENST00000249042|protein_coding|2/3|c.306A>C||||||,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding||c.-177T>G|||||1234|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding||c.-165T>G|||||1208|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding||c.-280T>G|||||1269|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding||c.-306T>G|||||1341|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding||c.-130T>G|||||1341|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding||c.-28T>G|||||1345|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron||n.-1T>G|||||1371|,G|upstream_gene_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding||c.-916T>G|||||4610|
22	37420504	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|2/3|c.308C>T|p.Ala103Val|484/1437|308/954|103/317||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|2/3|c.248C>T|p.Ala83Val|412/1345|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|3/4|c.248C>T|p.Ala83Val|527/1453|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|3/4|c.248C>T|p.Ala83Val|553/1504|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|2/3|c.248C>T|p.Ala83Val|377/1331|248/894|83/297||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|2/4|c.248C>T|p.Ala83Val|275/1329|248/675|83/224||,T|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|2/3|c.248C>T|p.Ala83Val|1163/2116|248/894|83/297||,T|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_1|ENST00000429360|protein_coding|2/3|c.248C>T||||||,T|sequence_feature|LOW|MPST|ENSG00000128309|helix|ENST00000429360|protein_coding|2/3|c.248C>T||||||,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000249042|protein_coding||c.-150G>A|||||4936|,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000403892|protein_coding||c.-736G>A|||||4996|,T|upstream_gene_variant|MODIFIER|TST|ENSG00000128311|transcript|ENST00000438203|protein_coding||c.-80G>A|||||4823|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.523C>T||||||
22	37420713	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|2/3|c.517G>A|p.Glu173Lys|693/1437|517/954|173/317||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|2/3|c.457G>A|p.Glu153Lys|621/1345|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|3/4|c.457G>A|p.Glu153Lys|736/1453|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|3/4|c.457G>A|p.Glu153Lys|762/1504|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|2/3|c.457G>A|p.Glu153Lys|586/1331|457/894|153/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|2/4|c.457G>A|p.Glu153Lys|484/1329|457/675|153/224||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|2/3|c.457G>A|p.Glu153Lys|1372/2116|457/894|153/297||,A|sequence_feature|LOW|MPST|ENSG00000128309|region_of_interest:Hinge|ENST00000429360|protein_coding|2/3|c.457G>A||||||,A|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.732G>A||||||
22	37425508	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397129|protein_coding|3/3|c.907G>A|p.Ala303Thr|1083/1437|907/954|303/317||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000401419|protein_coding|3/3|c.847G>A|p.Ala283Thr|1011/1345|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000404802|protein_coding|4/4|c.847G>A|p.Ala283Thr|1126/1453|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000341116|protein_coding|4/4|c.847G>A|p.Ala283Thr|1152/1504|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000429360|protein_coding|3/3|c.847G>A|p.Ala283Thr|976/1331|847/894|283/297||,A|missense_variant|MODERATE|MPST|ENSG00000128309|transcript|ENST00000397225|protein_coding|3/3|c.847G>A|p.Ala283Thr|1762/2116|847/894|283/297||,A|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_2|ENST00000429360|protein_coding|2/3|c.847G>A||||||,A|sequence_feature|LOW|MPST|ENSG00000128309|domain:Rhodanese_2|ENST00000429360|protein_coding|3/3|c.847G>A||||||,A|sequence_feature|LOW|MPST|ENSG00000128309|helix|ENST00000429360|protein_coding|3/3|c.847G>A||||||,A|3_prime_UTR_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000404393|protein_coding|4/4|c.*298G>A|||||4386|,A|non_coding_exon_variant|MODIFIER|MPST|ENSG00000128309|transcript|ENST00000485587|retained_intron|3/3|n.5527G>A||||||
22	37455365	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|5/9|c.520G>A|p.Gly174Ser|521/1763|520/966|174/321||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|5/8|c.520G>A|p.Gly174Ser|521/1691|520/894|174/297||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|5/7|c.382G>A|p.Gly128Ser|384/1438|382/540|128/179||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|5/5|n.*124G>A|||||1943|,A|upstream_gene_variant|MODIFIER|RN7SKP214|ENSG00000201078|transcript|ENST00000364208|misc_RNA||n.-1C>T|||||3978|,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay|5/5|n.*124G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron|5/5|n.355G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|4/6|n.345G>A||||||,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron|2/3|n.109G>A||||||
22	37457585	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding|8/9|c.812G>A|p.Arg271His|813/1763|812/966|271/321||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding|7/8|c.740G>A|p.Arg247His|741/1691|740/894|247/297||,A|missense_variant|MODERATE|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding|6/7|c.502G>A|p.Val168Ile|504/1438|502/540|168/179||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|7/9|c.812G>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|8/9|c.812G>A||||||,A|sequence_feature|LOW|KCTD17|ENSG00000100379|compositionally_biased_region:Pro-rich|ENST00000403888|protein_coding|9/9|c.812G>A||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding||c.*2616C>T|||||3891|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000421900|nonsense_mediated_decay||n.*314G>A|||||2207|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000483389|retained_intron||n.*546G>A|||||2029|,A|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808G>A|||||137|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding||c.*2553C>T|||||3894|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding||c.*2481C>T|||||3894|,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding||c.*2537C>T|||||3894|,A|non_coding_exon_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron|6/6|n.565G>A||||||
22	37462173	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|19/19|c.2422G>A|p.Val808Ile|2563/3260|2422/2475|808/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|18/18|c.2383G>A|p.Val795Ile|2500/3194|2383/2436|795/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|18/18|c.2356G>A|p.Val786Ile|2428/3122|2356/2409|786/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|19/19|c.2422G>A|p.Val808Ile|2484/3178|2422/2475|808/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2383G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2356G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2356G>A||||||,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967C>T|||||2743|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895C>T|||||2743|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542C>T|||||2759|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000478231|retained_intron||n.*584C>T|||||4569|,T|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000462640|retained_intron||n.*808C>T|||||4725|
22	37462936	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|18/19|c.2246T>C|p.Val749Ala|2387/3260|2246/2475|749/824||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|17/18|c.2207T>C|p.Val736Ala|2324/3194|2207/2436|736/811||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|17/18|c.2180T>C|p.Val727Ala|2252/3122|2180/2409|727/802||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|18/19|c.2246T>C|p.Val749Ala|2308/3178|2246/2475|749/824||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2207T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2180T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|18/19|c.2246T>C||||||,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000403888|protein_coding||c.*967A>G|||||3506|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000402077|protein_coding||c.*895A>G|||||3506|,G|downstream_gene_variant|MODIFIER|KCTD17|ENSG00000100379|transcript|ENST00000456470|protein_coding||c.*542A>G|||||3522|WARNING_TRANSCRIPT_NO_START_CODON
22	37465121	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2105G>T|p.Arg702Leu|2246/3260|2105/2475|702/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2132G>T|p.Arg711Leu|2249/3194|2132/2436|711/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2105G>T|p.Arg702Leu|2177/3122|2105/2409|702/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2105G>T|p.Arg702Leu|2167/3178|2105/2475|702/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2132G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2105G>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2105G>T||||||
22	37465141	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2085T>G|p.Ile695Met|2226/3260|2085/2475|695/824||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2112T>G|p.Ile704Met|2229/3194|2112/2436|704/811||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2085T>G|p.Ile695Met|2157/3122|2085/2409|695/802||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2085T>G|p.Ile695Met|2147/3178|2085/2475|695/824||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|17/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|16/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|18/18|c.2112T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|17/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|16/18|c.2085T>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|18/18|c.2085T>G||||||
22	37465152	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|16/19|c.2074C>T|p.His692Tyr|2215/3260|2074/2475|692/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|16/18|c.2101C>T|p.His701Tyr|2218/3194|2101/2436|701/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|16/18|c.2074C>T|p.His692Tyr|2146/3122|2074/2409|692/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|16/19|c.2074C>T|p.His692Tyr|2136/3178|2074/2475|692/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.2101C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.2074C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.2074C>T||||||
22	37466602	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|15/19|c.1763G>A|p.Arg588Gln|1904/3260|1763/2475|588/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|15/18|c.1790G>A|p.Arg597Gln|1907/3194|1790/2436|597/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|15/18|c.1763G>A|p.Arg588Gln|1835/3122|1763/2409|588/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|15/19|c.1763G>A|p.Arg588Gln|1825/3178|1763/2475|588/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|17/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|16/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|18/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000346753|protein_coding|15/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1790G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|17/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|16/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|18/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:Peptidase_S1|ENST00000406725|protein_coding|15/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1763G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1763G>A||||||
22	37466962	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1666C>T|p.His556Tyr|1807/3260|1666/2475|556/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1693C>T|p.His565Tyr|1810/3194|1693/2436|565/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1666C>T|p.His556Tyr|1738/3122|1666/2409|556/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1666C>T|p.His556Tyr|1728/3178|1666/2475|556/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1693C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1666C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1666C>T||||||
22	37466992	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1636C>T|p.Pro546Ser|1777/3260|1636/2475|546/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1663C>T|p.Pro555Ser|1780/3194|1663/2436|555/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1636C>T|p.Pro546Ser|1708/3122|1636/2409|546/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1636C>T|p.Pro546Ser|1698/3178|1636/2475|546/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1663C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1636C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1636C>T||||||
22	37467001	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|14/19|c.1627G>A|p.Asp543Asn|1768/3260|1627/2475|543/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|14/18|c.1654G>A|p.Asp552Asn|1771/3194|1654/2436|552/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|14/18|c.1627G>A|p.Asp543Asn|1699/3122|1627/2409|543/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|14/19|c.1627G>A|p.Asp543Asn|1689/3178|1627/2475|543/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|14/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000346753|protein_coding|15/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|14/18|c.1654G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|14/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406725|protein_coding|15/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|14/18|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|14/19|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_3|ENST00000406856|protein_coding|15/19|c.1627G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|14/19|c.1627G>A||||||
22	37470665	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|12/19|c.1426G>C|p.Asp476His|1567/3260|1426/2475|476/824||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|12/18|c.1453G>C|p.Asp485His|1570/3194|1453/2436|485/811||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|12/18|c.1426G>C|p.Asp476His|1498/3122|1426/2409|476/802||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|12/19|c.1426G>C|p.Asp476His|1488/3178|1426/2475|476/824||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|12/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000346753|protein_coding|11/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000346753|protein_coding|12/18|c.1453G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|12/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406725|protein_coding|11/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406725|protein_coding|12/18|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|12/19|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406856|protein_coding|11/19|c.1426G>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:LDL-receptor_class_A_1|ENST00000406856|protein_coding|12/19|c.1426G>C||||||
22	37471208	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1309C>T|p.Arg437Trp|1450/3260|1309/2475|437/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1336C>T|p.Arg446Trp|1453/3194|1336/2436|446/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1309C>T|p.Arg437Trp|1381/3122|1309/2409|437/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1309C>T|p.Arg437Trp|1371/3178|1309/2475|437/824||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1336C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1309C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1309C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1G>A|||||4900|
22	37471289	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1228G>A|p.Ala410Thr|1369/3260|1228/2475|410/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1255G>A|p.Ala419Thr|1372/3194|1255/2436|419/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1228G>A|p.Ala410Thr|1300/3122|1228/2409|410/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1228G>A|p.Ala410Thr|1290/3178|1228/2475|410/824||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1255G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1228G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1228G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1C>T|||||4819|
22	37471300	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|11/19|c.1217T>C|p.Leu406Pro|1358/3260|1217/2475|406/824||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|11/18|c.1244T>C|p.Leu415Pro|1361/3194|1244/2436|415/811||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|11/18|c.1217T>C|p.Leu406Pro|1289/3122|1217/2409|406/802||,G|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|11/19|c.1217T>C|p.Leu406Pro|1279/3178|1217/2475|406/824||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1244T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1217T>C||||||,G|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1217T>C||||||,G|upstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.-1A>G|||||4808|
22	37480291	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|10/10|c.1267C>G|p.Pro423Ala|1384/1695|1267/1386|423/461||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1223+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1196+44C>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1196+44C>G||||||,C|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>C|||||1404|,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|10/18|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|10/17|c.1223+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|10/17|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|10/18|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|2/2|c.209+44C>G||||||
22	37480294	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|10/10|c.1264C>A|p.Pro422Thr|1381/1695|1264/1386|422/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1223+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1196+41C>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1196+41C>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>T|||||1407|,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|10/18|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|10/17|c.1223+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|10/17|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|10/18|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|2/2|c.209+41C>A||||||
22	37480832	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.1021G>A|p.Val341Ile|1162/3260|1021/2475|341/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1048G>A|p.Val350Ile|1165/3194|1048/2436|350/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.1021G>A|p.Val341Ile|1093/3122|1021/2409|341/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.1021G>A|p.Val341Ile|1083/3178|1021/2475|341/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.34G>A|p.Val12Ile|34/446|34/216|12/71||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1048G>A|p.Val350Ile|1165/1695|1048/1386|350/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1048G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.1021G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.1021G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||1945|
22	37480861	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|9/19|c.992C>T|p.Thr331Met|1133/3260|992/2475|331/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|9/18|c.1019C>T|p.Thr340Met|1136/3194|1019/2436|340/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|9/18|c.992C>T|p.Thr331Met|1064/3122|992/2409|331/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|9/19|c.992C>T|p.Thr331Met|1054/3178|992/2475|331/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding|1/3|c.5C>T|p.Thr2Met|5/446|5/216|2/71||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|9/10|c.1019C>T|p.Thr340Met|1136/1695|1019/1386|340/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|9/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|11/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000346753|protein_coding|10/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000346753|protein_coding|9/18|c.1019C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|9/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|11/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406725|protein_coding|10/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406725|protein_coding|9/18|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|9/19|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|11/19|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_2|ENST00000406856|protein_coding|10/19|c.992C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|disulfide_bond|ENST00000406856|protein_coding|9/19|c.992C>T||||||,A|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464G>A|||||1974|
22	37482353	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|8/19|c.943G>A|p.Val315Met|1084/3260|943/2475|315/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|8/18|c.970G>A|p.Val324Met|1087/3194|970/2436|324/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|8/18|c.943G>A|p.Val315Met|1015/3122|943/2409|315/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|8/19|c.943G>A|p.Val315Met|1005/3178|943/2475|315/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|8/10|c.970G>A|p.Val324Met|1087/1695|970/1386|324/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.970G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.943G>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.943G>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1G>A|||||1488|,T|downstream_gene_variant|MODIFIER|RP5-1170K4.7|ENSG00000231467|transcript|ENST00000414203|antisense||n.*464C>T|||||3466|
22	37485714	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.740T>A|p.Met247Lys|881/3260|740/2475|247/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.767T>A|p.Met256Lys|884/3194|767/2436|256/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.740T>A|p.Met247Lys|812/3122|740/2409|247/802||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.740T>A|p.Met247Lys|802/3178|740/2475|247/824||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.767T>A|p.Met256Lys|884/1695|767/1386|256/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.767T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.740T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.740T>A||||||,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1T>A|||||4849|
22	37485724	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|7/19|c.730A>G|p.Lys244Glu|871/3260|730/2475|244/824||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|7/18|c.757A>G|p.Lys253Glu|874/3194|757/2436|253/811||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|7/18|c.730A>G|p.Lys244Glu|802/3122|730/2409|244/802||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|7/19|c.730A>G|p.Lys244Glu|792/3178|730/2475|244/824||,C|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|7/10|c.757A>G|p.Lys253Glu|874/1695|757/1386|253/461||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|9/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|8/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|7/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000346753|protein_coding|6/18|c.757A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|9/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|8/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|7/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406725|protein_coding|6/18|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|9/19|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|8/19|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|7/19|c.730A>G||||||,C|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:CUB_1|ENST00000406856|protein_coding|6/19|c.730A>G||||||,C|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000429068|protein_coding||c.-1A>G|||||4859|
22	37492005	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.530C>T|p.Ser177Leu|671/3260|530/2475|177/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.557C>T|p.Ser186Leu|674/3194|557/2436|186/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.530C>T|p.Ser177Leu|602/3122|530/2409|177/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.530C>T|p.Ser177Leu|592/3178|530/2475|177/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.557C>T|p.Ser186Leu|674/1695|557/1386|186/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.557C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.530C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.530C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE
22	37492078	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|5/19|c.457C>T|p.Arg153Cys|598/3260|457/2475|153/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|5/18|c.484C>T|p.Arg162Cys|601/3194|484/2436|162/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|5/18|c.457C>T|p.Arg153Cys|529/3122|457/2409|153/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|5/19|c.457C>T|p.Arg153Cys|519/3178|457/2475|153/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|5/10|c.484C>T|p.Arg162Cys|601/1695|484/1386|162/461||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.484C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.457C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.457C>T||||||,A|downstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.*526C>T|||||32|WARNING_TRANSCRIPT_INCOMPLETE
22	37494485	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/19|c.307C>T|p.Arg103Cys|448/3260|307/2475|103/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/18|c.334C>T|p.Arg112Cys|451/3194|334/2436|112/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/18|c.307C>T|p.Arg103Cys|379/3122|307/2409|103/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/19|c.307C>T|p.Arg103Cys|369/3178|307/2475|103/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/10|c.334C>T|p.Arg112Cys|451/1695|334/1386|112/461||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/4|c.307C>T|p.Arg103Cys|408/526|307/425|103/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.334C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.307C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.307C>T||||||
22	37494542	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/19|c.250C>T|p.Arg84Cys|391/3260|250/2475|84/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/18|c.277C>T|p.Arg93Cys|394/3194|277/2436|93/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/18|c.250C>T|p.Arg84Cys|322/3122|250/2409|84/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/19|c.250C>T|p.Arg84Cys|312/3178|250/2475|84/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/10|c.277C>T|p.Arg93Cys|394/1695|277/1386|93/461||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/4|c.250C>T|p.Arg84Cys|351/526|250/425|84/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|3/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|4/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|5/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000346753|protein_coding|6/18|c.277C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|3/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|4/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|5/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406725|protein_coding|6/18|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|3/19|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|4/19|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|5/19|c.250C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|domain:SEA|ENST00000406856|protein_coding|6/19|c.250C>T||||||
22	37494580	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|3/19|c.212C>T|p.Ala71Val|353/3260|212/2475|71/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|3/18|c.239C>T|p.Ala80Val|356/3194|239/2436|80/811||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|3/18|c.212C>T|p.Ala71Val|284/3122|212/2409|71/802||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|3/19|c.212C>T|p.Ala71Val|274/3178|212/2475|71/824||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|3/10|c.239C>T|p.Ala80Val|356/1695|239/1386|80/461||,A|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding|2/4|c.212C>T|p.Ala71Val|313/526|212/425|71/140||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|9/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|11/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|2/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|17/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|8/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|16/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|3/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|10/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|4/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|5/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|18/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|7/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|13/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|6/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|14/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|15/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000346753|protein_coding|12/18|c.239C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|9/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|11/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|2/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|17/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|8/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|16/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|3/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|10/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|4/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|5/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|18/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|7/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|13/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|6/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|14/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|15/18|c.212C>T||||||,A|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Extracellular|ENST00000406725|protein_coding|12/18|c.212C>T||||||
22	37499566	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000346753|protein_coding|1/18|c.14T>A|p.Phe5Tyr|131/3194|14/2436|5/811||,T|missense_variant|MODERATE|TMPRSS6|ENSG00000187045|transcript|ENST00000442782|protein_coding|1/10|c.14T>A|p.Phe5Tyr|131/1695|14/1386|5/461||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|2/18|c.14T>A||||||,T|sequence_feature|LOW|TMPRSS6|ENSG00000187045|topological_domain:Cytoplasmic|ENST00000346753|protein_coding|1/18|c.14T>A||||||,T|5_prime_UTR_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000381792|protein_coding|1/19|c.-14T>A|||||109|,T|upstream_gene_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000423761|protein_coding||c.-102T>A|||||8|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406725|protein_coding|1/17|c.-1-108T>A||||||,T|intron_variant|MODIFIER|TMPRSS6|ENSG00000187045|transcript|ENST00000406856|protein_coding|1/18|c.-1-108T>A||||||
22	37524245	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1547C>T|p.Pro516Leu|1746/4113|1547/1656|516/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1547C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1547C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1547C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||317|
22	37524365	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1427C>T|p.Thr476Ile|1626/4113|1427/1656|476/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1427C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1427C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1427C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||197|
22	37524387	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1405C>T|p.Pro469Ser|1604/4113|1405/1656|469/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1405C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1405C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1405C>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708C>T|||||175|
22	37524433	.	C	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1359G>T|p.Glu453Asp|1558/4113|1359/1656|453/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1359G>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1359G>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1359G>T||||||,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708G>T|||||129|
22	37524483	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1309G>A|p.Gly437Ser|1508/4113|1309/1656|437/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1309G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1309G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1309G>A||||||,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.*708G>A|||||79|
22	37524600	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1192G>A|p.Gly398Arg|1391/4113|1192/1656|398/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1192G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1192G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1192G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.670G>A||||||
22	37524619	.	G	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1173C>A|p.Asp391Glu|1372/4113|1173/1656|391/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1173C>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1173C>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1173C>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.651C>A||||||
22	37524683	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.1109C>T|p.Pro370Leu|1308/4113|1109/1656|370/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.1109C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.1109C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.1109C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.587C>T||||||
22	37524843	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|10/10|c.949G>A|p.Gly317Ser|1148/4113|949/1656|317/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.949G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.949G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.949G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|4/4|n.427G>A||||||
22	37531375	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|8/10|c.811G>A|p.Gly271Arg|1010/4113|811/1656|271/551||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|10/10|c.811G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|9/10|c.811G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Cytoplasmic|ENST00000216223|protein_coding|8/10|c.811G>A||||||,T|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1C>T|||||2689|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660G>A|||||1030|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569G>A|||||2350|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563G>A|||||3737|,T|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318G>A|||||3808|,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|2/4|n.289G>A||||||
22	37532381	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|7/10|c.590C>T|p.Thr197Met|789/4113|590/1656|197/551||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.590C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.590C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||1683|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding||c.*660C>T|||||24|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569C>T|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||2731|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||2802|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron|1/4|n.68C>T||||||
22	37533705	.	T	G	.	.	ANN=G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/10|c.459A>C|p.Glu153Asp|658/4113|459/1656|153/551||,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/7|c.459A>C|p.Glu153Asp|553/660|459/566|153/187||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.459A>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|6/10|c.459A>C||||||,G|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1T>G|||||359|,G|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1A>C|||||1257|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding||c.*569A>C|||||20|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563A>C|||||1407|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318A>C|||||1478|,G|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587A>C|||||4785|WARNING_TRANSCRIPT_INCOMPLETE
22	37533763	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|6/10|c.401C>T|p.Ala134Val|600/4113|401/1656|134/551||,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|6/7|c.401C>T|p.Ala134Val|495/660|401/566|134/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|6/6|c.401C>T|p.Ala134Val|531/569|401/439|134/145||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|7/10|c.401C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|domain:Fibronectin_type-III|ENST00000216223|protein_coding|6/10|c.401C>T||||||,A|upstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.-1G>A|||||301|,A|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000483573|retained_intron||n.-1C>T|||||1315|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron||n.*563C>T|||||1349|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.*318C>T|||||1420|,A|downstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding||c.*587C>T|||||4727|WARNING_TRANSCRIPT_INCOMPLETE
22	37538508	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.248C>T|p.Ser83Phe|447/4113|248/1656|83/551||,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.248C>T|p.Ser83Phe|342/660|248/566|83/187||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.248C>T|p.Ser83Phe|378/569|248/439|83/145||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.248C>T|p.Ser83Phe|569/587|248/266|83/87||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.248C>T||||||,A|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.248C>T||||||,A|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*67C>T|||||67|,A|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60G>A|||||4385|,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.378C>T||||||,A|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*67C>T||||||
22	37538521	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.235G>A|p.Val79Met|434/4113|235/1656|79/551||,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.235G>A|p.Val79Met|329/660|235/566|79/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.235G>A|p.Val79Met|365/569|235/439|79/145||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.235G>A|p.Val79Met|556/587|235/266|79/87||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.235G>A||||||,T|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|4/10|c.235G>A||||||,T|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*54G>A|||||54|,T|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60C>T|||||4398|,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.365G>A||||||,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*54G>A||||||
22	37538531	.	C	G	.	.	ANN=G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|4/10|c.225G>C|p.Glu75Asp|424/4113|225/1656|75/551||,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|4/7|c.225G>C|p.Glu75Asp|319/660|225/566|75/187||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|4/6|c.225G>C|p.Glu75Asp|355/569|225/439|75/145||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|5/5|c.225G>C|p.Glu75Asp|546/587|225/266|75/87||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|2/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|3/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|7/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|4/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|5/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|6/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|topological_domain:Extracellular|ENST00000216223|protein_coding|8/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|3/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|4/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|disulfide_bond|ENST00000216223|protein_coding|5/10|c.225G>C||||||,G|sequence_feature|LOW|IL2RB|ENSG00000100385|beta_strand|ENST00000216223|protein_coding|4/10|c.225G>C||||||,G|3_prime_UTR_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*44G>C|||||44|,G|downstream_gene_variant|MODIFIER|AL022314.1|ENSG00000252142|transcript|ENST00000516333|miRNA||n.*60C>G|||||4408|,G|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|4/5|n.355G>C||||||,G|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay|2/3|n.*44G>C||||||
22	37540185	.	G	C	.	.	ANN=C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/10|c.28C>G|p.Leu10Val|227/4113|28/1656|10/551||,C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/7|c.28C>G|p.Leu10Val|122/660|28/566|10/187||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/6|c.28C>G|p.Leu10Val|158/569|28/439|10/145||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/5|c.28C>G|p.Leu10Val|349/587|28/266|10/87||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|IL2RB|ENSG00000100385|signal_peptide|ENST00000216223|protein_coding|2/10|c.28C>G||||||,C|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1C>G|||||524|,C|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/5|n.158C>G||||||
22	37540187	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000216223|protein_coding|2/10|c.26G>A|p.Arg9His|225/4113|26/1656|9/551||,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000453962|protein_coding|2/7|c.26G>A|p.Arg9His|120/660|26/566|9/187||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000429622|protein_coding|2/6|c.26G>A|p.Arg9His|156/569|26/439|9/145||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|IL2RB|ENSG00000100385|transcript|ENST00000445595|protein_coding|3/5|c.26G>A|p.Arg9His|347/587|26/266|9/87||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|IL2RB|ENSG00000100385|signal_peptide|ENST00000216223|protein_coding|2/10|c.26G>A||||||,T|upstream_gene_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000440958|nonsense_mediated_decay||n.-1G>A|||||526|,T|non_coding_exon_variant|MODIFIER|IL2RB|ENSG00000100385|transcript|ENST00000461607|retained_intron|2/5|n.156G>A||||||
22	37578337	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.728G>A|p.Arg243His|804/2934|728/837|243/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.728G>A|p.Arg243His|801/1647|728/837|243/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.356G>A|p.Arg119His|356/563|356/465|119/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.728G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*478G>A|||||2079|,T|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-132C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4157G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1170G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*478G>A||||||
22	37578388	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.677G>A|p.Arg226His|753/2934|677/837|226/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.677G>A|p.Arg226His|750/1647|677/837|226/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.305G>A|p.Arg102His|305/563|305/465|102/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.677G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*427G>A|||||2028|,T|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-81C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4106G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1119G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*427G>A||||||
22	37578403	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.662C>T|p.Ala221Val|738/2934|662/837|221/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.662C>T|p.Ala221Val|735/1647|662/837|221/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.290C>T|p.Ala97Val|290/563|290/465|97/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.662C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*412C>T|||||2013|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-66G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4091C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1104C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*412C>T||||||
22	37578419	.	C	A	.	.	ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.646G>T|p.Ala216Ser|722/2934|646/837|216/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.646G>T|p.Ala216Ser|719/1647|646/837|216/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.274G>T|p.Ala92Ser|274/563|274/465|92/154||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.646G>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*396G>T|||||1997|,A|intron_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|1/1|n.209-50C>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4075G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1088G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*396G>T||||||
22	37578471	.	G	T	.	.	ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.594C>A|p.His198Gln|670/2934|594/837|198/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.594C>A|p.His198Gln|667/1647|594/837|198/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.222C>A|p.His74Gln|222/563|222/465|74/154||,T|splice_region_variant&non_coding_exon_variant|LOW|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.211G>T||||||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.594C>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*344C>A|||||1945|,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4023C>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1036C>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*344C>A||||||
22	37578488	.	A	C	.	.	ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.577T>G|p.Phe193Val|653/2934|577/837|193/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.577T>G|p.Phe193Val|650/1647|577/837|193/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.205T>G|p.Phe69Val|205/563|205/465|69/154||,C|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.577T>G||||||,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*327T>G|||||1928|,C|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.228A>C||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.4006T>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1019T>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*327T>G||||||
22	37578502	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.563G>A|p.Arg188His|639/2934|563/837|188/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.563G>A|p.Arg188His|636/1647|563/837|188/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|2/2|c.191G>A|p.Arg64His|191/563|191/465|64/154||,T|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:C1q|ENST00000397110|protein_coding|3/4|c.563G>A||||||,T|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*313G>A|||||1914|,T|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.242C>T||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|8/9|n.3992G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.1005G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*313G>A||||||
22	37578652	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|3/3|c.413C>T|p.Pro138Leu|489/2934|413/837|138/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|3/4|c.413C>T|p.Pro138Leu|486/1647|413/837|138/278||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|2/4|c.413C>T||||||,A|sequence_feature|LOW|C1QTNF6|ENSG00000133466|domain:Collagen-like|ENST00000397110|protein_coding|3/4|c.413C>T||||||,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*163C>T|||||1764|,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|7/8|n.3872-30C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding|1/1|c.71-30C>T||||||,A|non_coding_exon_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense|2/2|n.392G>A||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|2/2|n.855C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|4/4|n.*163C>T||||||
22	37581353	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.194C>G|p.Pro65Arg|270/2934|194/837|65/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.194C>G|p.Pro65Arg|267/1647|194/837|65/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>G|||||2508|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>C|||||2463|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3684C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.636C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.194C>G||||||
22	37581383	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.164G>A|p.Gly55Asp|240/2934|164/837|55/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.164G>A|p.Gly55Asp|237/1647|164/837|55/278||,T|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>A|||||2538|,T|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>T|||||2493|,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3654G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.606G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.164G>A||||||
22	37581420	.	T	C	.	.	ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.127A>G|p.Met43Val|203/2934|127/837|43/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.127A>G|p.Met43Val|200/1647|127/837|43/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1A>G|||||2575|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630T>C|||||2530|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3617A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.569A>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.127A>G||||||
22	37581422	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.125C>G|p.Pro42Arg|201/2934|125/837|42/278||,C|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.125C>G|p.Pro42Arg|198/1647|125/837|42/278||,C|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>G|||||2577|,C|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>C|||||2532|,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3615C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.567C>G||||||,C|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.125C>G||||||
22	37581455	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.92C>T|p.Ala31Val|168/2934|92/837|31/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.92C>T|p.Ala31Val|165/1647|92/837|31/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1C>T|||||2610|,A|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630G>A|||||2565|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3582C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.534C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.92C>T||||||
22	37581477	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.70G>A|p.Ala24Thr|146/2934|70/837|24/278||,T|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.70G>A|p.Ala24Thr|143/1647|70/837|24/278||,T|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>A|||||2632|,T|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>T|||||2587|,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3560G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.512G>A||||||,T|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.70G>A||||||
22	37581485	.	C	A	.	.	ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|2/3|c.62G>T|p.Gly21Val|138/2934|62/837|21/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|2/4|c.62G>T|p.Gly21Val|135/1647|62/837|21/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000255836|protein_coding||c.-1G>T|||||2640|,A|downstream_gene_variant|MODIFIER|RP1-151B14.6|ENSG00000235237|transcript|ENST00000419128|antisense||n.*630C>A|||||2595|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|6/9|n.3552G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron|1/2|n.504G>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|2/4|n.62G>T||||||
22	37584228	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000337843|protein_coding|1/3|c.26C>T|p.Ser9Leu|102/2934|26/837|9/278||,A|missense_variant|MODERATE|C1QTNF6|ENSG00000133466|transcript|ENST00000397110|protein_coding|1/4|c.26C>T|p.Ser9Leu|99/1647|26/837|9/278||,A|upstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000493023|retained_intron||n.-1C>T|||||2240|,A|downstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000467564|processed_transcript||n.*479C>T|||||2365|,A|downstream_gene_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000497071|processed_transcript||n.*688C>T|||||2365|,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000470655|processed_transcript|4/9|n.3340C>T||||||,A|non_coding_exon_variant|MODIFIER|C1QTNF6|ENSG00000133466|transcript|ENST00000434784|nonsense_mediated_decay|1/4|n.26C>T||||||
22	37602602	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1241G>A|p.Arg414His|1775/4099|1241/1257|414/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1241G>A|p.Arg414His|1698/1780|1241/1257|414/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1241G>A||||||
22	37602611	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1232G>C|p.Ser411Thr|1766/4099|1232/1257|411/418||,G|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1232G>C|p.Ser411Thr|1689/1780|1232/1257|411/418||,G|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1232G>C||||||
22	37602779	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1064A>G|p.Glu355Gly|1598/4099|1064/1257|355/418||,C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1064A>G|p.Glu355Gly|1521/1780|1064/1257|355/418||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1064A>G||||||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|compositionally_biased_region:Glu-rich__acidic_|ENST00000402501|protein_coding|2/2|c.1064A>G||||||
22	37602809	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1034C>T|p.Pro345Leu|1568/4099|1034/1257|345/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1034C>T|p.Pro345Leu|1491/1780|1034/1257|345/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1034C>T||||||
22	37602822	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1021A>G|p.Thr341Ala|1555/4099|1021/1257|341/418||,C|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1021A>G|p.Thr341Ala|1478/1780|1021/1257|341/418||,C|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1021A>G||||||
22	37602837	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.1006C>T|p.Arg336Cys|1540/4099|1006/1257|336/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.1006C>T|p.Arg336Cys|1463/1780|1006/1257|336/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.1006C>T||||||
22	37602984	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.859G>A|p.Glu287Lys|1393/4099|859/1257|287/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.859G>A|p.Glu287Lys|1316/1780|859/1257|287/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.859G>A||||||
22	37603073	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.770G>A|p.Arg257His|1304/4099|770/1257|257/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.770G>A|p.Arg257His|1227/1780|770/1257|257/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.770G>A||||||
22	37603112	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.731C>T|p.Ser244Leu|1265/4099|731/1257|244/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.731C>T|p.Ser244Leu|1188/1780|731/1257|244/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.731C>T||||||
22	37603127	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.716G>A|p.Arg239Gln|1250/4099|716/1257|239/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.716G>A|p.Arg239Gln|1173/1780|716/1257|239/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.716G>A||||||
22	37603311	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.532G>A|p.Val178Met|1066/4099|532/1257|178/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.532G>A|p.Val178Met|989/1780|532/1257|178/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.532G>A||||||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.532G>A||||||
22	37603326	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.517G>A|p.Val173Met|1051/4099|517/1257|173/418||,T|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.517G>A|p.Val173Met|974/1780|517/1257|173/418||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.517G>A||||||,T|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.517G>A||||||
22	37603358	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.485C>T|p.Thr162Met|1019/4099|485/1257|162/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.485C>T|p.Thr162Met|942/1780|485/1257|162/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.485C>T||||||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|transmembrane_region:Transmembrane_region|ENST00000402501|protein_coding|2/2|c.485C>T||||||
22	37603391	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.452C>T|p.Ser151Leu|986/4099|452/1257|151/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.452C>T|p.Ser151Leu|909/1780|452/1257|151/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|disulfide_bond|ENST00000402501|protein_coding|2/2|c.452C>T||||||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Cytoplasmic|ENST00000402501|protein_coding|2/2|c.452C>T||||||
22	37603733	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000328544|protein_coding|2/2|c.110C>T|p.Pro37Leu|644/4099|110/1257|37/418||,A|missense_variant|MODERATE|SSTR3|ENSG00000183473|transcript|ENST00000402501|protein_coding|2/2|c.110C>T|p.Pro37Leu|567/1780|110/1257|37/418||,A|sequence_feature|LOW|SSTR3|ENSG00000183473|topological_domain:Extracellular|ENST00000402501|protein_coding|2/2|c.110C>T||||||
22	37692092	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|4/13|c.220A>G|p.Met74Val|407/3202|220/1185|74/394||,G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|5/6|c.220A>G|p.Met74Val|519/652|220/353|74/116||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|4/7|c.220A>G|p.Met74Val|315/633|220/465|74/154||,G|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|4/7|c.220A>G|p.Met74Val|303/636|220/474|74/157||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.220A>G||||||,G|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.220A>G||||||,G|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1A>G|||||4831|,G|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593A>G|||||1359|,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|4/5|n.275A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|4/13|n.265A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron|4/4|n.263A>G||||||,G|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|4/8|n.259A>G||||||
22	37693689	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|5/13|c.319A>C|p.Asn107His|506/3202|319/1185|107/394||,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000457992|protein_coding|6/6|c.319A>C|p.Asn107His|618/652|319/353|107/116||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000402997|protein_coding|5/7|c.319A>C|p.Asn107His|414/633|319/465|107/154||,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000405206|protein_coding|5/7|c.319A>C|p.Asn107His|402/636|319/474|107/157||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|9/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|4/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|6/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|7/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|3/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|5/13|c.319A>C||||||,C|sequence_feature|LOW|CYTH4|ENSG00000100055|domain:SEC7|ENST00000248901|protein_coding|8/13|c.319A>C||||||,C|upstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000447919|processed_transcript||n.-1A>C|||||3234|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000480510|retained_intron||n.*815A>C|||||1045|,C|downstream_gene_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000467664|retained_intron||n.*593A>C|||||2956|,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000469886|retained_intron|5/5|n.374A>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|5/13|n.364A>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000439667|processed_transcript|5/8|n.358A>C||||||
22	37709536	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000248901|protein_coding|13/13|c.1169T>C|p.Ile390Thr|1356/3202|1169/1185|390/394||,C|missense_variant|MODERATE|CYTH4|ENSG00000100055|transcript|ENST00000446506|protein_coding|5/5|c.425T>C|p.Ile142Thr|426/569|425/441|142/146||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CYTH4|ENSG00000100055|region_of_interest:C-terminal_autoinhibitory_region|ENST00000248901|protein_coding|13/13|c.1169T>C||||||,C|non_coding_exon_variant|MODIFIER|CYTH4|ENSG00000100055|transcript|ENST00000462927|retained_intron|13/13|n.1821T>C||||||
22	37769393	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.2182G>A|p.Val728Met|2968/8361|2182/2463|728/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.2182G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||495|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||2352|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||2352|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||2378|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||2410|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||2410|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11497G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30649G>A||||||
22	37769662	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1913A>G|p.Lys638Arg|2699/8361|1913/2463|638/820||,C|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1913A>G||||||,C|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910T>C|||||764|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532A>G|||||2083|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481A>G|||||2083|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579A>G|||||2109|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517A>G|||||2141|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558A>G|||||2141|,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11228A>G||||||,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30918A>G||||||
22	37769686	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1889G>A|p.Ser630Asn|2675/8361|1889/2463|630/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1889G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||788|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||2059|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||2059|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||2085|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||2117|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||2117|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11204G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-30942G>A||||||
22	37769786	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1789G>C|p.Glu597Gln|2575/8361|1789/2463|597/820||,G|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1789G>C||||||,G|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>G|||||888|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>C|||||1959|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>C|||||1959|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>C|||||1985|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>C|||||2017|,G|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>C|||||2017|,G|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11104G>C||||||,G|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31042G>C||||||
22	37769816	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1759G>T|p.Ala587Ser|2545/8361|1759/2463|587/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1759G>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|compositionally_biased_region:Poly-Ala|ENST00000402918|protein_coding|3/3|c.1759G>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>A|||||918|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>T|||||1929|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>T|||||1929|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>T|||||1955|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>T|||||1987|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>T|||||1987|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+11074G>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31072G>T||||||
22	37770023	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1552G>A|p.Glu518Lys|2338/8361|1552/2463|518/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1552G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||1125|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||1722|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||1722|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||1748|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||1780|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||1780|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10867G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31279G>A||||||
22	37770044	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1531G>A|p.Gly511Arg|2317/8361|1531/2463|511/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Cytoplasmic|ENST00000402918|protein_coding|3/3|c.1531G>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||1146|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||1701|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||1701|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||1727|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||1759|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||1759|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10846G>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31300G>A||||||
22	37770517	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.1058C>T|p.Ala353Val|1844/8361|1058/2463|353/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.1058C>T||||||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|domain:Fibronectin_type-III|ENST00000402918|protein_coding|3/3|c.1058C>T||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>A|||||1619|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>T|||||1228|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>T|||||1228|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>T|||||1254|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>T|||||1286|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>T|||||1286|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10373C>T||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-31773C>T||||||
22	37770790	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.785C>A|p.Ser262Tyr|1571/8361|785/2463|262/820||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.785C>A||||||,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910G>T|||||1892|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532C>A|||||955|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481C>A|||||955|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579C>A|||||981|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517C>A|||||1013|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558C>A|||||1013|,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10100C>A||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32046C>A||||||
22	37770812	.	C	A,T	.	.	ANN=A|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.763G>T|p.Val255Leu|1549/8361|763/2463|255/820||,T|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.763G>A|p.Val255Met|1549/8361|763/2463|255/820||,A|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.763G>T||||||,T|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.763G>A||||||,A|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>A|||||1914|,T|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910C>T|||||1914|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>T|||||933|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532G>A|||||933|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>T|||||933|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481G>A|||||933|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>T|||||959|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579G>A|||||959|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>T|||||991|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517G>A|||||991|,A|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>T|||||991|,T|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558G>A|||||991|,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10078G>T||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+10078G>A||||||,A|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32068G>T||||||,T|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32068G>A||||||
22	37771348	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ELFN2|ENSG00000166897|transcript|ENST00000402918|protein_coding|3/3|c.227A>G|p.Asn76Ser|1013/8361|227/2463|76/820||,C|sequence_feature|LOW|ELFN2|ENSG00000166897|topological_domain:Extracellular|ENST00000402918|protein_coding|3/3|c.227A>G||||||,C|sequence_feature|LOW|ELFN2|ENSG00000166897|repeat:LRR_1|ENST00000402918|protein_coding|3/3|c.227A>G||||||,C|downstream_gene_variant|MODIFIER|RP1-63G5.8|ENSG00000272694|transcript|ENST00000609322|antisense||n.*910T>C|||||2450|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000414347|processed_transcript||n.*532A>G|||||397|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000424973|processed_transcript||n.*481A>G|||||397|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000435824|processed_transcript||n.*579A>G|||||423|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000451509|processed_transcript||n.*517A>G|||||455|,C|downstream_gene_variant|MODIFIER|ELFN2|ENSG00000166897|transcript|ENST00000415408|processed_transcript||n.*558A>G|||||455|,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000430883|sense_overlapping|1/2|n.434+9542A>G||||||,C|intron_variant|MODIFIER|RP1-63G5.5|ENSG00000243902|transcript|ENST00000452946|sense_overlapping|1/2|n.149-32604A>G||||||
22	37866035	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|8/8|c.932A>G|p.Asp311Gly|1156/2088|932/966|311/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|7/7|c.890A>G|p.Asp297Gly|1100/2034|890/924|297/307||,C|synonymous_variant|LOW|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|2/2|c.84A>G|p.Arg28Arg|86/570|84/261|28/86||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|8/8|c.932A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|7/7|c.890A>G||||||,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595A>G|||||4515|,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644A>G|||||4566|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|2/3|n.315A>G||||||
22	37866063	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|8/8|c.904C>T|p.Arg302Cys|1128/2088|904/966|302/321||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|7/7|c.862C>T|p.Arg288Cys|1072/2034|862/924|288/307||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|2/2|c.56C>T|p.Ser19Leu|58/570|56/261|19/86||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.904C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.904C>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595C>T|||||4487|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644C>T|||||4538|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|2/3|n.287C>T||||||
22	37868509	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|7/8|c.871C>T|p.Pro291Ser|1095/2088|871/966|291/321||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|6/7|c.829C>T|p.Pro277Ser|1039/2034|829/924|277/307||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.871C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.871C>T||||||,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.*595C>T|||||2041|,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.*644C>T|||||2092|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594C>T|||||4425|,A|intron_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding|1/1|c.51+2041C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron|1/3|n.254C>T||||||
22	37870707	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|6/8|c.656G>A|p.Arg219His|880/2088|656/966|219/321||,T|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|5/7|c.614G>A|p.Arg205His|824/2034|614/924|205/307||,T|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|6/6|c.290G>A|p.Arg97His|538/644|290/396|97/131||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.656G>A||||||,T|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.656G>A||||||,T|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*214G>A|||||4795|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1G>A|||||1945|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3G>A|||||105|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.*594G>A|||||2227|,T|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524G>A|||||4743|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|5/5|n.*214G>A||||||
22	37872974	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|5/8|c.607A>G|p.Ile203Val|831/2088|607/966|203/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|4/7|c.565A>G|p.Ile189Val|775/2034|565/924|189/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|5/6|c.241A>G|p.Ile81Val|489/644|241/396|81/131||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.607A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.607A>G||||||,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|4/5|n.*165A>G|||||2528|,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|5/5|n.*230A>G|||||3291|,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000489515|retained_intron||n.-1A>G|||||4212|,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3A>G|||||2372|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524A>G|||||2476|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436A>G|||||3275|,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570A>G|||||3343|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|4/5|n.*165A>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|5/5|n.*230A>G||||||
22	37875447	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|4/8|c.497A>G|p.Tyr166Cys|721/2088|497/966|166/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|3/7|c.455A>G|p.Tyr152Cys|665/2034|455/924|152/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|4/6|c.131A>G|p.Tyr44Cys|379/644|131/396|44/131||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|4/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|5/8|c.497A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|3/7|c.455A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|4/7|c.455A>G||||||,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/5|n.*55A>G|||||55|,C|3_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/5|n.*120A>G|||||818|,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000454291|protein_coding||c.-3A>G|||||4845|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.*524A>G|||||3|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.*436A>G|||||802|,C|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570A>G|||||870|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|3/5|n.*55A>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|4/5|n.*120A>G||||||
22	37876289	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|3/8|c.353C>T|p.Ala118Val|577/2088|353/966|118/321||,A|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|2/7|c.311C>T|p.Ala104Val|521/2034|311/924|104/307||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000356998|protein_coding|3/8|c.353C>T||||||,A|sequence_feature|LOW|MFNG|ENSG00000100060|disulfide_bond|ENST00000416983|protein_coding|2/7|c.311C>T||||||,A|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding|3/6|c.-14C>T|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding|4/5|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.*570C>T|||||28|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|2/5|n.304C>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|3/5|n.360C>T||||||,A|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron|2/2|n.396C>T||||||
22	37882061	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.155A>G|p.Gln52Arg|379/2088|155/966|52/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.155A>G|p.Gln52Arg|365/2034|155/924|52/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.155A>G|p.Gln52Arg|371/570|155/354|52/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|6/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|8/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|4/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|2/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|5/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|7/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|3/8|c.155A>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Lumenal|ENST00000356998|protein_coding|1/8|c.155A>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249A>G|||||4652|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397A>G|||||1394|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000466943|retained_intron||n.-1A>G|||||4956|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139A>G|||||4341|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169A>G|||||4339|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316A>G|||||4339|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910A>G|||||4340|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332A>G|||||4341|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.155A>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.155A>G||||||
22	37882149	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.67T>G|p.Cys23Gly|291/2088|67/966|23/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.67T>G|p.Cys23Gly|277/2034|67/924|23/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.67T>G|p.Cys23Gly|283/570|67/354|23/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000356998|protein_coding|1/8|c.67T>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|transmembrane_region:Transmembrane_region|ENST00000416983|protein_coding|1/7|c.67T>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249T>G|||||4740|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397T>G|||||1482|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139T>G|||||4253|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169T>G|||||4251|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316T>G|||||4251|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910T>G|||||4252|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332T>G|||||4253|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.67T>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.67T>G||||||
22	37882197	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding|1/8|c.19C>G|p.Arg7Gly|243/2088|19/966|7/321||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding|1/7|c.19C>G|p.Arg7Gly|229/2034|19/924|7/307||,C|missense_variant|MODERATE|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding|1/3|c.19C>G|p.Arg7Gly|235/570|19/354|7/117||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Cytoplasmic|ENST00000356998|protein_coding|1/8|c.19C>G||||||,C|sequence_feature|LOW|MFNG|ENSG00000100060|topological_domain:Cytoplasmic|ENST00000416983|protein_coding|1/7|c.19C>G||||||,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000436341|protein_coding||c.-249C>G|||||4788|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000442496|protein_coding||c.-397C>G|||||1530|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding||c.*3139C>G|||||4205|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron||n.*2169C>G|||||4203|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding||c.*3316C>G|||||4203|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.*1910C>G|||||4204|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.*2332C>G|||||4205|,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay|1/5|n.19C>G||||||,C|non_coding_exon_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay|1/5|n.19C>G||||||
22	37887387	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|20/20|c.2909G>A|p.Arg970Gln|2949/3934|2909/3099|970/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|21/21|c.2909G>A|p.Arg970Gln|3126/4113|2909/3099|970/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|17/17|c.2051G>A|p.Arg684Gln|2142/3127|2051/2241|684/746||,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000356998|protein_coding||c.-225G>A|||||4948|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000416983|protein_coding||c.-211G>A|||||4962|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000438891|nonsense_mediated_decay||n.-203G>A|||||4970|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000430411|nonsense_mediated_decay||n.-211G>A|||||4962|,T|upstream_gene_variant|MODIFIER|MFNG|ENSG00000100060|transcript|ENST00000424765|protein_coding||c.-217G>A|||||4956|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140G>A|||||1381|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546G>A|||||4470|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578G>A|||||4521|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|8/8|n.1182G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|5/5|n.924G>A||||||
22	37887847	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|19/20|c.2779C>T|p.Arg927Trp|2819/3934|2779/3099|927/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|20/21|c.2779C>T|p.Arg927Trp|2996/4113|2779/3099|927/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|16/17|c.1921C>T|p.Arg641Trp|2012/3127|1921/2241|641/746||,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||921|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||4010|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||4061|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|7/8|n.1052C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|4/5|n.794C>T||||||
22	37888488	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|18/20|c.2705C>T|p.Pro902Leu|2745/3934|2705/3099|902/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|19/21|c.2705C>T|p.Pro902Leu|2922/4113|2705/3099|902/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|15/17|c.1847C>T|p.Pro616Leu|1938/3127|1847/2241|616/746||,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.*2140C>T|||||280|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546C>T|||||3369|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578C>T|||||3420|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|6/8|n.978C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|3/5|n.720C>T||||||
22	37888779	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|17/20|c.2507T>C|p.Leu836Ser|2547/3934|2507/3099|836/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|18/21|c.2507T>C|p.Leu836Ser|2724/4113|2507/3099|836/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|14/17|c.1649T>C|p.Leu550Ser|1740/3127|1649/2241|550/746||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|15/15|c.1430T>C|p.Leu477Ser|2129/2140|1430/1441|477/479||WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546T>C|||||3078|,G|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578T>C|||||3129|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|5/8|n.780T>C||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|2/5|n.522T>C||||||
22	37890131	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|16/20|c.2438G>A|p.Gly813Glu|2478/3934|2438/3099|813/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|17/21|c.2438G>A|p.Gly813Glu|2655/4113|2438/3099|813/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|13/17|c.1580G>A|p.Gly527Glu|1671/3127|1580/2241|527/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|14/15|c.1361G>A|p.Gly454Glu|2060/2140|1361/1441|454/479||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546G>A|||||1726|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578G>A|||||1777|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|4/8|n.711G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron|1/5|n.453G>A||||||
22	37891540	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|15/20|c.2357G>A|p.Arg786Gln|2397/3934|2357/3099|786/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|16/21|c.2357G>A|p.Arg786Gln|2574/4113|2357/3099|786/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|12/17|c.1499G>A|p.Arg500Gln|1590/3127|1499/2241|500/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|13/15|c.1280G>A|p.Arg427Gln|1979/2140|1280/1441|427/479||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1G>A|||||957|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript||n.*546G>A|||||317|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.*578G>A|||||368|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|3/8|n.630G>A||||||
22	37891957	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|14/20|c.2113G>A|p.Glu705Lys|2153/3934|2113/3099|705/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|15/21|c.2113G>A|p.Glu705Lys|2330/4113|2113/3099|705/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|11/17|c.1255G>A|p.Glu419Lys|1346/3127|1255/2241|419/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|12/15|c.1036G>A|p.Glu346Lys|1735/2140|1036/1441|346/479||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|6/6|c.529G>A|p.Glu177Lys|529/578|529/578|177/191||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1G>A|||||1374|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|2/8|n.386G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|3/3|n.446G>A||||||
22	37892482	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|13/20|c.2033C>T|p.Thr678Ile|2073/3934|2033/3099|678/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|14/21|c.2033C>T|p.Thr678Ile|2250/4113|2033/3099|678/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|10/17|c.1175C>T|p.Thr392Ile|1266/3127|1175/2241|392/746||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|11/15|c.956C>T|p.Thr319Ile|1655/2140|956/1441|319/479||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding|5/6|c.449C>T|p.Thr150Ile|449/578|449/578|150/191||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000467812|retained_intron||n.-1C>T|||||1899|,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000488141|retained_intron|1/8|n.306C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000486118|processed_transcript|2/3|n.366C>T||||||
22	37900200	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/20|c.1627C>G|p.Pro543Ala|1667/3934|1627/3099|543/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/21|c.1627C>G|p.Pro543Ala|1844/4113|1627/3099|543/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/17|c.769C>G|p.Pro257Ala|860/3127|769/2241|257/746||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/15|c.550C>G|p.Pro184Ala|1249/2140|550/1441|184/479||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>G|||||113|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>G|||||3689|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>G|||||4334|
22	37900286	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|9/20|c.1541A>G|p.Lys514Arg|1581/3934|1541/3099|514/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|10/21|c.1541A>G|p.Lys514Arg|1758/4113|1541/3099|514/1032||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|6/17|c.683A>G|p.Lys228Arg|774/3127|683/2241|228/746||,C|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|7/15|c.464A>G|p.Lys155Arg|1163/2140|464/1441|155/479||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1A>G|||||199|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583A>G|||||3603|,C|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560A>G|||||4248|
22	37902275	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1307C>T|p.Thr436Met|1347/3934|1307/3099|436/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1307C>T|p.Thr436Met|1524/4113|1307/3099|436/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.449C>T|p.Thr150Met|540/3127|449/2241|150/746||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.230C>T|p.Thr77Met|929/2140|230/1441|77/479||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1307C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1307C>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||2188|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583C>T|||||1614|,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||2259|
22	37902377	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|7/20|c.1205G>A|p.Arg402His|1245/3934|1205/3099|402/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|8/21|c.1205G>A|p.Arg402His|1422/4113|1205/3099|402/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|4/17|c.347G>A|p.Arg116His|438/3127|347/2241|116/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|5/15|c.128G>A|p.Arg43His|827/2140|128/1441|43/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1205G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1205G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||2290|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||1512|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||2157|
22	37903883	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1144G>A|p.Ala382Thr|1184/3934|1144/3099|382/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1144G>A|p.Ala382Thr|1361/4113|1144/3099|382/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.286G>A|p.Ala96Thr|377/3127|286/2241|96/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.67G>A|p.Ala23Thr|766/2140|67/1441|23/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1144G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1144G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||3796|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron||n.*583G>A|||||6|,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||651|
22	37903936	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1091G>A|p.Arg364Gln|1131/3934|1091/3099|364/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1091G>A|p.Arg364Gln|1308/4113|1091/3099|364/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.233G>A|p.Arg78Gln|324/3127|233/2241|78/746||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.14G>A|p.Arg5Gln|713/2140|14/1441|5/479||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1091G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1091G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>A|||||3849|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560G>A|||||598|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|3/3|n.536G>A||||||
22	37903937	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|6/20|c.1090C>T|p.Arg364Trp|1130/3934|1090/3099|364/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|7/21|c.1090C>T|p.Arg364Trp|1307/4113|1090/3099|364/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|3/17|c.232C>T|p.Arg78Trp|323/3127|232/2241|78/746||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|4/15|c.13C>T|p.Arg5Trp|712/2140|13/1441|5/479||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.1090C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.1090C>T||||||,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||3850|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.*560C>T|||||597|,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|3/3|n.535C>T||||||
22	37904656	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.943C>T|p.Arg315Cys|983/3934|943/3099|315/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.943C>T|p.Arg315Cys|1160/4113|943/3099|315/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.85C>T|p.Arg29Cys|176/3127|85/2241|29/746||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.943C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.943C>T||||||,A|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-135C>T|||||707|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||4569|WARNING_TRANSCRIPT_INCOMPLETE,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.388C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.438C>T||||||
22	37904659	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.940G>C|p.Glu314Gln|980/3934|940/3099|314/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.940G>C|p.Glu314Gln|1157/4113|940/3099|314/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.82G>C|p.Glu28Gln|173/3127|82/2241|28/746||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.940G>C||||||,G|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.940G>C||||||,G|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-138G>C|||||710|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1G>C|||||4572|WARNING_TRANSCRIPT_INCOMPLETE,G|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.385G>C||||||,G|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.435G>C||||||
22	37904676	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|5/20|c.923C>T|p.Pro308Leu|963/3934|923/3099|308/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|6/21|c.923C>T|p.Pro308Leu|1140/4113|923/3099|308/1032||,A|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding|2/17|c.65C>T|p.Pro22Leu|156/3127|65/2241|22/746||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-155C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.923C>T||||||,A|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.923C>T||||||,A|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|3/15|c.-155C>T|||||727|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000433485|protein_coding||c.-1C>T|||||4589|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|2/3|n.368C>T||||||,A|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|3/3|n.418C>T||||||
22	37906277	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.851G>A|p.Arg284His|891/3934|851/3099|284/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.851G>A|p.Arg284His|1068/4113|851/3099|284/1032||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-227G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.851G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.851G>A||||||,T|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-227G>A|||||2328|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92G>A|||||1121|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.296G>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.346G>A||||||
22	37906386	.	A	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|4/20|c.742T>A|p.Cys248Ser|782/3934|742/3099|248/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|5/21|c.742T>A|p.Cys248Ser|959/4113|742/3099|248/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.742T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.742T>A||||||,T|5_prime_UTR_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding|2/15|c.-336T>A|||||2437|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000406271|protein_coding||c.-92T>A|||||1230|,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000476871|retained_intron|1/3|n.187T>A||||||,T|non_coding_exon_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript|2/3|n.237T>A||||||
22	37912053	.	A	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|3/20|c.626T>A|p.Ile209Asn|666/3934|626/3099|209/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|4/21|c.626T>A|p.Ile209Asn|843/4113|626/3099|209/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.626T>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.626T>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.-700T>A|||||3805|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1T>A|||||1241|
22	37912152	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|3/20|c.527G>A|p.Arg176Gln|567/3934|527/3099|176/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|4/21|c.527G>A|p.Arg176Gln|744/4113|527/3099|176/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.527G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.527G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.-700G>A|||||3904|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>A|||||1340|
22	37912254	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|3/20|c.425G>A|p.Arg142Gln|465/3934|425/3099|142/1032||,T|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|4/21|c.425G>A|p.Arg142Gln|642/4113|425/3099|142/1032||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|6/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|3/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|5/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|4/20|c.425G>A||||||,T|sequence_feature|LOW|CARD10|ENSG00000100065|coiled-coil_region|ENST00000251973|protein_coding|7/20|c.425G>A||||||,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000437756|protein_coding||c.-700G>A|||||4006|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>A|||||1442|
22	37915200	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000251973|protein_coding|1/20|c.8G>C|p.Gly3Ala|48/3934|8/3099|3/1032||,G|missense_variant|MODERATE|CARD10|ENSG00000100065|transcript|ENST00000403299|protein_coding|2/21|c.8G>C|p.Gly3Ala|225/4113|8/3099|3/1032||,G|upstream_gene_variant|MODIFIER|CARD10|ENSG00000100065|transcript|ENST00000494166|processed_transcript||n.-1G>C|||||4388|
22	37962541	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.185C>A|p.Ser62Tyr|605/2181|185/1176|62/391||,A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding|3/3|c.185C>A|p.Ser62Tyr|695/720|185/210|62/69||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>T|||||3714|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>A|||||4|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>A|||||39|WARNING_TRANSCRIPT_INCOMPLETE
22	37962583	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.227G>A|p.Arg76His|647/2181|227/1176|76/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||3672|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||17|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||46|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||81|WARNING_TRANSCRIPT_INCOMPLETE
22	37962642	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.286C>T|p.Pro96Ser|706/2181|286/1176|96/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3613|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||76|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||105|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||140|WARNING_TRANSCRIPT_INCOMPLETE
22	37962643	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.287C>T|p.Pro96Leu|707/2181|287/1176|96/391||,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574G>A|||||3612|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||77|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||106|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||141|WARNING_TRANSCRIPT_INCOMPLETE
22	37962646	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.290G>A|p.Arg97Gln|710/2181|290/1176|97/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||3609|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||80|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||109|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||144|WARNING_TRANSCRIPT_INCOMPLETE
22	37962777	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|2/3|c.421G>C|p.Asp141His|841/2181|421/1176|141/391||,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>G|||||3478|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>C|||||211|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>C|||||240|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>C|||||275|WARNING_TRANSCRIPT_INCOMPLETE
22	37964154	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.503G>A|p.Arg168His|923/2181|503/1176|168/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||2101|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||1588|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||1617|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||1652|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3702|WARNING_TRANSCRIPT_INCOMPLETE
22	37964214	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.563G>A|p.Arg188His|983/2181|563/1176|188/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||2041|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||1648|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||1677|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||1712|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3642|WARNING_TRANSCRIPT_INCOMPLETE
22	37964580	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.929G>A|p.Arg310Gln|1349/2181|929/1176|310/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||1675|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||2014|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||2043|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||2078|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3276|WARNING_TRANSCRIPT_INCOMPLETE
22	37964682	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1031T>C|p.Leu344Pro|1451/2181|1031/1176|344/391||,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574A>G|||||1573|,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720T>C|||||2116|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588T>C|||||2145|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564T>C|||||2180|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406A>G|||||3174|WARNING_TRANSCRIPT_INCOMPLETE
22	37964756	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1105G>A|p.Val369Met|1525/2181|1105/1176|369/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||1499|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||2190|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||2219|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||2254|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3100|WARNING_TRANSCRIPT_INCOMPLETE
22	37964795	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding|3/3|c.1144G>A|p.Asp382Asn|1564/2181|1144/1176|382/391||,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding||c.*574C>T|||||1460|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||2229|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||2258|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||2293|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||3061|WARNING_TRANSCRIPT_INCOMPLETE
22	37966314	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|4/4|c.355G>A|p.Val119Ile|530/589|355/399|119/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|4/4|c.355G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.355G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.355G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.355G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||902|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||3748|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||3777|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||3812|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1542|WARNING_TRANSCRIPT_INCOMPLETE
22	37966409	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|4/4|c.260C>T|p.Thr87Ile|435/589|260/399|87/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|4/4|c.260C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.260C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||997|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||3843|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||3872|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||3907|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1447|WARNING_TRANSCRIPT_INCOMPLETE
22	37966648	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.184G>A|p.Gly62Ser|359/589|184/399|62/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.184G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.184G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.184G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||1236|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||4082|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||4111|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||4146|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1208|WARNING_TRANSCRIPT_INCOMPLETE
22	37966686	.	C	T	.	.	ANN=T|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.146G>A|p.Arg49His|321/589|146/399|49/132||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.146G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.146G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.146G>A||||||,T|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.146G>A||||||,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596C>T|||||1274|,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720C>T|||||4120|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588C>T|||||4149|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564C>T|||||4184|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406G>A|||||1170|WARNING_TRANSCRIPT_INCOMPLETE
22	37966689	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|3/4|c.143C>T|p.Pro48Leu|318/589|143/399|48/132||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.143C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.143C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.143C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|beta_strand|ENST00000215886|protein_coding|3/4|c.143C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||1277|,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000430687|protein_coding||c.*720G>A|||||4123|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000415670|protein_coding||c.*588G>A|||||4152|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000434728|protein_coding||c.*564G>A|||||4187|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding||c.*406C>T|||||1167|WARNING_TRANSCRIPT_INCOMPLETE
22	37967904	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000215886|protein_coding|2/4|c.41C>T|p.Pro14Leu|216/589|41/399|14/132||,A|missense_variant|MODERATE|LGALS2|ENSG00000100079|transcript|ENST00000416480|protein_coding|4/4|c.41C>T|p.Pro14Leu|358/406|41/89|14/28||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|2/4|c.41C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|4/4|c.41C>T||||||,A|sequence_feature|LOW|LGALS2|ENSG00000100079|domain:Galectin|ENST00000215886|protein_coding|3/4|c.41C>T||||||,A|downstream_gene_variant|MODIFIER|CDC42EP1|ENSG00000128283|transcript|ENST00000249014|protein_coding||c.*1596G>A|||||2492|
22	38016355	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|5/17|c.465G>C|p.Met155Ile|601/2107|465/1971|155/656||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|5/17|c.414G>C|p.Met138Ile|800/3159|414/1920|138/639||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|5/7|c.195G>C|p.Met65Ile|436/566|195/325|65/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|5/15|c.414G>C|p.Met138Ile|430/2528|414/1659|138/552||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|4/16|c.315G>C|p.Met105Ile|330/2688|315/1821|105/606||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|5/9|c.390G>C|p.Met130Ile|578/927|390/739|130/245||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding|6/7|c.195G>C|p.Met65Ile|622/639|195/212|65/69||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|6/18|c.195G>C|p.Met65Ile|847/3205|195/1701|65/566||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|5/7|c.195G>C|p.Met65Ile|434/565|195/326|65/107||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|4/6|c.195G>C|p.Met65Ile|428/559|195/326|65/107||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|5/17|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|5/15|c.414G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.315G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|4/16|c.315G>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1G>C|||||506|,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>C|||||3481|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657G>C|||||2228|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384G>C|||||2202|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>C|||||304|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>C|||||16|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>C|||||73|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>C|||||1802|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>C|||||1833|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>C|||||81|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>C|||||99|
22	38016825	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|6/17|c.484G>A|p.Val162Ile|620/2107|484/1971|162/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|6/17|c.433G>A|p.Val145Ile|819/3159|433/1920|145/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding|6/7|c.214G>A|p.Val72Ile|455/566|214/325|72/107||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|6/15|c.433G>A|p.Val145Ile|449/2528|433/1659|145/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|5/16|c.334G>A|p.Val112Ile|349/2688|334/1821|112/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|6/9|c.409G>A|p.Val137Ile|597/927|409/739|137/245||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|7/18|c.214G>A|p.Val72Ile|866/3205|214/1701|72/566||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding|6/7|c.214G>A|p.Val72Ile|453/565|214/326|72/107||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding|5/6|c.214G>A|p.Val72Ile|447/559|214/326|72/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|6/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|3/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|5/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|2/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000343632|protein_coding|4/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|6/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|3/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|5/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|2/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:VHS|ENST00000325180|protein_coding|4/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.433G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.334G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.334G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.-1G>A|||||36|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>A|||||3011|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000414350|protein_coding||c.*657G>A|||||2698|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000489772|retained_intron||n.*1384G>A|||||2672|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>A|||||774|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>A|||||486|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>A|||||543|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639G>A|||||2|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>A|||||2272|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>A|||||2303|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>A|||||551|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>A|||||569|
22	38019448	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/17|c.775G>C|p.Ala259Pro|911/2107|775/1971|259/656||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/17|c.724G>C|p.Ala242Pro|1110/3159|724/1920|242/639||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/15|c.724G>C|p.Ala242Pro|740/2528|724/1659|242/552||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/16|c.625G>C|p.Ala209Pro|640/2688|625/1821|209/606||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/9|c.700G>C|p.Ala234Pro|888/927|700/739|234/245||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/18|c.505G>C|p.Ala169Pro|1157/3205|505/1701|169/566||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.724G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.625G>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.625G>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>C|||||388|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>C|||||3397|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566G>C|||||1810|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>C|||||3109|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>C|||||3166|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639G>C|||||2625|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>C|||||4895|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>C|||||4926|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>C|||||3174|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565G>C|||||1809|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559G>C|||||1809|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>C|||||3192|,C|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/4|n.256G>C||||||
22	38019458	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|8/17|c.785G>A|p.Ser262Asn|921/2107|785/1971|262/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|8/17|c.734G>A|p.Ser245Asn|1120/3159|734/1920|245/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|8/15|c.734G>A|p.Ser245Asn|750/2528|734/1659|245/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|7/16|c.635G>A|p.Ser212Asn|650/2688|635/1821|212/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding|8/9|c.710G>A|p.Ser237Asn|898/927|710/739|237/245||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|9/18|c.515G>A|p.Ser172Asn|1167/3205|515/1701|172/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|8/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|6/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|7/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|9/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000343632|protein_coding|5/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|8/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|8/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|6/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|7/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|9/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000325180|protein_coding|5/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|8/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000325180|protein_coding|9/15|c.734G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|7/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|5/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|6/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|8/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|interacting_region:Interaction_with_ARF3|ENST00000337437|protein_coding|4/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|7/16|c.635G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.635G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.-1G>A|||||378|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345G>A|||||3407|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566G>A|||||1820|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568G>A|||||3119|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661G>A|||||3176|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639G>A|||||2635|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000447515|protein_coding||c.*577G>A|||||4905|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000431745|protein_coding||c.*483G>A|||||4936|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946G>A|||||3184|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565G>A|||||1819|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559G>A|||||1819|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594G>A|||||3202|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron|3/4|n.266G>A||||||
22	38021036	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|10/17|c.944T>C|p.Val315Ala|1080/2107|944/1971|315/656||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|10/17|c.893T>C|p.Val298Ala|1279/3159|893/1920|298/639||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|9/16|c.794T>C|p.Val265Ala|809/2688|794/1821|265/606||,C|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|11/18|c.674T>C|p.Val225Ala|1326/3205|674/1701|225/566||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|10/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|8/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|6/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|7/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000343632|protein_coding|9/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|10/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000343632|protein_coding|9/17|c.893T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|9/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|7/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|5/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|6/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAT|ENST00000337437|protein_coding|8/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|9/16|c.794T>C||||||,C|sequence_feature|LOW|GGA1|ENSG00000100083|helix|ENST00000337437|protein_coding|8/16|c.794T>C||||||,C|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1T>C|||||4433|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000405147|protein_coding||c.*345T>C|||||4985|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566T>C|||||3398|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000439161|protein_coding||c.*568T>C|||||4697|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927T>C|||||1465|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000411501|protein_coding||c.*661T>C|||||4754|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000453208|protein_coding||c.*639T>C|||||4213|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000326597|protein_coding||c.*946T>C|||||4762|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565T>C|||||3397|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559T>C|||||3397|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000491295|retained_intron||n.*594T>C|||||4780|,C|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647T>C|||||1113|,C|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+1396T>C||||||,C|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|1/2|n.1201T>C||||||
22	38021882	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|11/17|c.1070G>A|p.Arg357His|1206/2107|1070/1971|357/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|11/17|c.1019G>A|p.Arg340His|1405/3159|1019/1920|340/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|10/16|c.920G>A|p.Arg307His|935/2688|920/1821|307/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|12/18|c.800G>A|p.Arg267His|1452/3205|800/1701|267/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1019G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.920G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.920G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.-1G>A|||||3587|,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1G>A|||||4793|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000429218|protein_coding||c.*566G>A|||||4244|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000449944|protein_coding||c.*927G>A|||||2311|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000413251|protein_coding||c.*565G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000423024|protein_coding||c.*559G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000481613|retained_intron||n.*647G>A|||||1959|,A|intron_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|9/14|c.832+2242G>A||||||,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron|2/2|n.1327G>A||||||
22	38026059	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1264G>A|p.Glu422Lys|1400/2107|1264/1971|422/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1213G>A|p.Glu405Lys|1599/3159|1213/1920|405/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.952G>A|p.Glu318Lys|968/2528|952/1659|318/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1114G>A|p.Glu372Lys|1129/2688|1114/1821|372/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.994G>A|p.Glu332Lys|1646/3205|994/1701|332/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1213G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1114G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1114G>A||||||,A|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1G>A|||||616|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||4602|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614G>A|||||2890|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.120G>A||||||
22	38026075	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1280C>T|p.Ala427Val|1416/2107|1280/1971|427/656||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1229C>T|p.Ala410Val|1615/3159|1229/1920|410/639||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.968C>T|p.Ala323Val|984/2528|968/1659|323/552||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1130C>T|p.Ala377Val|1145/2688|1130/1821|377/606||,T|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.1010C>T|p.Ala337Val|1662/3205|1010/1701|337/566||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1229C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1130C>T||||||,T|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1130C>T||||||,T|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>T|||||600|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>T|||||4586|,T|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>T|||||2906|,T|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.136C>T||||||
22	38026077	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|13/17|c.1282C>G|p.Gln428Glu|1418/2107|1282/1971|428/656||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|13/17|c.1231C>G|p.Gln411Glu|1617/3159|1231/1920|411/639||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|11/15|c.970C>G|p.Gln324Glu|986/2528|970/1659|324/552||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|12/16|c.1132C>G|p.Gln378Glu|1147/2688|1132/1821|378/606||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|14/18|c.1012C>G|p.Gln338Glu|1664/3205|1012/1701|338/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1231C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1132C>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1132C>G||||||,G|upstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron||n.-1C>G|||||598|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939C>G|||||4584|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614C>G|||||2908|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron|2/2|n.138C>G||||||
22	38026965	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|14/17|c.1438A>G|p.Ser480Gly|1574/2107|1438/1971|480/656||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|14/17|c.1387A>G|p.Ser463Gly|1773/3159|1387/1920|463/639||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|12/15|c.1126A>G|p.Ser376Gly|1142/2528|1126/1659|376/552||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|13/16|c.1288A>G|p.Ser430Gly|1303/2688|1288/1821|430/606||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|15/18|c.1168A>G|p.Ser390Gly|1820/3205|1168/1701|390/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1387A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1288A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1288A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939A>G|||||3696|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614A>G|||||3796|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367A>G|||||659|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|1/4|n.291A>G||||||
22	38027013	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|14/17|c.1486G>A|p.Val496Met|1622/2107|1486/1971|496/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|14/17|c.1435G>A|p.Val479Met|1821/3159|1435/1920|479/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|12/15|c.1174G>A|p.Val392Met|1190/2528|1174/1659|392/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|13/16|c.1336G>A|p.Val446Met|1351/2688|1336/1821|446/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|15/18|c.1216G>A|p.Val406Met|1868/3205|1216/1701|406/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|10/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|12/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|13/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|11/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000343632|protein_coding|14/17|c.1435G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|9/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|11/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|12/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|10/16|c.1336G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|region_of_interest:Unstructured_hinge|ENST00000337437|protein_coding|13/16|c.1336G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||3648|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000475445|retained_intron||n.*2614G>A|||||3844|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>A|||||707|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|1/4|n.339G>A||||||
22	38028618	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|17/17|c.1871G>A|p.Arg624His|2007/2107|1871/1971|624/656||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|17/17|c.1820G>A|p.Arg607His|2206/3159|1820/1920|607/639||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|15/15|c.1559G>A|p.Arg520His|1575/2528|1559/1659|520/552||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|16/16|c.1721G>A|p.Arg574His|1736/2688|1721/1821|574/606||,A|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|18/18|c.1601G>A|p.Arg534His|2253/3205|1601/1701|534/566||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1820G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1559G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1721G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1721G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1721G>A||||||,A|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1721G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939G>A|||||2043|,A|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367G>A|||||2312|,A|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|4/4|n.724G>A||||||
22	38028644	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000381756|protein_coding|17/17|c.1897A>G|p.Met633Val|2033/2107|1897/1971|633/656||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000343632|protein_coding|17/17|c.1846A>G|p.Met616Val|2232/3159|1846/1920|616/639||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000325180|protein_coding|15/15|c.1585A>G|p.Met529Val|1601/2528|1585/1659|529/552||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000337437|protein_coding|16/16|c.1747A>G|p.Met583Val|1762/2688|1747/1821|583/606||,G|missense_variant|MODERATE|GGA1|ENSG00000100083|transcript|ENST00000406772|protein_coding|18/18|c.1627A>G|p.Met543Val|2279/3205|1627/1701|543/566||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|17/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|16/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|14/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000343632|protein_coding|15/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000343632|protein_coding|17/17|c.1846A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|15/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|14/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|12/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000325180|protein_coding|13/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000325180|protein_coding|15/15|c.1585A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|16/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|15/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|13/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|domain:GAE|ENST00000337437|protein_coding|14/16|c.1747A>G||||||,G|sequence_feature|LOW|GGA1|ENSG00000100083|beta_strand|ENST00000337437|protein_coding|16/16|c.1747A>G||||||,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay||n.-939A>G|||||2017|,G|downstream_gene_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000463672|retained_intron||n.*367A>G|||||2338|,G|non_coding_exon_variant|MODIFIER|GGA1|ENSG00000100083|transcript|ENST00000460957|retained_intron|4/4|n.750A>G||||||
22	38037158	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|2/18|c.85G>A|p.Gly29Ser|398/2852|85/2106|29/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|2/15|c.85G>A|p.Gly29Ser|196/1470|85/1359|29/452||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|2/17|c.85G>A|p.Gly29Ser|178/1678|85/1482|29/493||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.85G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.85G>A||||||,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.-1G>A|||||231|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding||c.-1G>A|||||313|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.-1G>A|||||2304|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.-1G>A|||||2563|,A|downstream_gene_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense||n.*1945C>T|||||681|,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|1/16|n.60-223G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|3/20|n.85G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|1/17|n.766G>A||||||
22	38039746	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|7/18|c.569C>T|p.Thr190Met|882/2852|569/2106|190/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|7/15|c.569C>T|p.Thr190Met|680/1470|569/1359|190/452||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|7/17|c.569C>T|p.Thr190Met|662/1678|569/1482|190/493||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|5/16|c.377C>T|p.Thr126Met|377/2879|377/1818|126/605||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.569C>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.569C>T||||||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*463C>T|||||2362|,T|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1C>T|||||3029|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|5/6|n.700G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|8/20|n.569C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|6/17|n.*463C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|6/17|n.1372C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|5/10|n.455C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|1/7|n.285C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|1/3|n.26C>T||||||
22	38040958	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|9/18|c.769G>A|p.Gly257Ser|1082/2852|769/2106|257/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|9/15|c.769G>A|p.Gly257Ser|880/1470|769/1359|257/452||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|9/17|c.769G>A|p.Gly257Ser|862/1678|769/1482|257/493||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|7/16|c.577G>A|p.Gly193Ser|577/2879|577/1818|193/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.769G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.769G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*663G>A|||||3574|,A|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1G>A|||||1817|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1190C>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|10/20|n.769G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|8/17|n.*663G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|8/17|n.1572G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|7/10|n.655G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|3/7|n.485G>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron|3/3|n.226G>A||||||
22	38041375	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|10/18|c.782A>G|p.His261Arg|1095/2852|782/2106|261/701||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|10/15|c.782A>G|p.His261Arg|893/1470|782/1359|261/452||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|10/17|c.782A>G|p.His261Arg|875/1678|782/1482|261/493||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|8/16|c.590A>G|p.His197Arg|590/2879|590/1818|197/605||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|4/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|9/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|6/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|2/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|8/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|1/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|7/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|10/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|3/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000357436|protein_coding|5/18|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|4/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|9/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|1/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|6/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|2/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|8/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|7/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|10/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|3/15|c.782A>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:BAR|ENST00000336738|protein_coding|5/15|c.782A>G||||||,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|9/17|n.*676A>G|||||3991|,G|upstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.-1A>G|||||1400|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330A>G|||||313|,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.678-1607T>C||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|11/20|n.782A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|9/17|n.*676A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|9/17|n.1585A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|8/10|n.668A>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|4/7|n.498A>G||||||
22	38042828	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|11/18|c.928C>A|p.Leu310Ile|1241/2852|928/2106|310/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding|11/15|c.928C>A|p.Leu310Ile|1039/1470|928/1359|310/452||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|11/17|c.928C>A|p.Leu310Ile|1021/1678|928/1482|310/493||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|9/16|c.736C>A|p.Leu246Ile|736/2879|736/1818|246/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.928C>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.928C>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/17|n.*822C>A|||||5444|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000459646|retained_intron||n.*330C>A|||||1766|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|4/5|n.677+1502G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|12/20|n.928C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|10/17|n.*822C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|10/17|n.1731C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript|9/10|n.814C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron|5/7|n.644C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|1/6|n.54C>A||||||
22	38046173	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/18|c.1331T>G|p.Leu444Arg|1644/2852|1331/2106|444/701||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/17|c.1429T>G|p.Trp477Gly|1522/1678|1429/1482|477/493||,G|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/16|c.1139T>G|p.Leu380Arg|1139/2879|1139/1818|380/605||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1331T>G||||||,G|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1331T>G||||||,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*38T>G|||||38|,G|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1225T>G|||||8789|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470T>G|||||38|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947T>G|||||2875|,G|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900T>G|||||2660|,G|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+165A>C||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*38T>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1225T>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/17|n.2134T>G||||||,G|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/6|n.457T>G||||||
22	38046235	.	G	A,T	.	.	ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/18|c.1393G>A|p.Ala465Thr|1706/2852|1393/2106|465/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|15/18|c.1393G>T|p.Ala465Ser|1706/2852|1393/2106|465/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/16|c.1201G>A|p.Ala401Thr|1201/2879|1201/1818|401/605||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|13/16|c.1201G>T|p.Ala401Ser|1201/2879|1201/1818|401/605||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1393G>A||||||,A|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1393G>A||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|12/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|15/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|11/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|14/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|13/18|c.1393G>T||||||,T|sequence_feature|LOW|SH3BP1|ENSG00000100092|domain:Rho-GAP|ENST00000357436|protein_coding|10/18|c.1393G>T||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>A|||||100|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>T|||||100|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>A|||||8851|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>T|||||8851|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/17|c.*9G>A|||||9|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding|16/17|c.*9G>T|||||9|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>A|||||100|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470G>T|||||100|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>A|||||2937|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947G>T|||||2937|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>A|||||2722|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900G>T|||||2722|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+103C>T||||||,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/5|n.505+103C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|16/20|n.*100G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|14/17|n.*1287G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/17|n.2196G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|14/17|n.2196G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/6|n.519G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|5/6|n.519G>T||||||
22	38046666	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1532C>T|p.Pro511Leu|1845/2852|1532/2106|511/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1340C>T|p.Pro447Leu|1340/2879|1340/1818|447/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*239C>T|||||531|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1426C>T|||||9282|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||531|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||45|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3368|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3153|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.177G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*239C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1426C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2335C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.658C>T||||||
22	38046672	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1538C>T|p.Pro513Leu|1851/2852|1538/2106|513/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1346C>T|p.Pro449Leu|1346/2879|1346/1818|449/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*245C>T|||||537|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1432C>T|||||9288|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||537|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||51|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3374|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3159|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.171G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*245C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1432C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2341C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.664C>T||||||
22	38046678	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1544C>T|p.Pro515Leu|1857/2852|1544/2106|515/701||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1352C>T|p.Pro451Leu|1352/2879|1352/1818|451/605||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*251C>T|||||543|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1438C>T|||||9294|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>T|||||543|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||57|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>T|||||3380|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>T|||||3165|,T|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.165G>A||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*251C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1438C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2347C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.670C>T||||||
22	38046695	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|16/18|c.1561C>A|p.Pro521Thr|1874/2852|1561/2106|521/701||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|14/16|c.1369C>A|p.Pro457Thr|1369/2879|1369/1818|457/605||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*268C>A|||||560|,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1455C>A|||||9311|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000336738|protein_coding||c.*1470C>A|||||560|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>A|||||74|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000495174|processed_transcript||n.*947C>A|||||3397|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000471650|retained_intron||n.*900C>A|||||3182|,A|non_coding_exon_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|2/6|n.148G>T||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|17/20|n.*268C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|15/17|n.*1455C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|15/17|n.2364C>A||||||,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron|6/6|n.687C>A||||||
22	38051291	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1706C>T|p.Ala569Val|2019/2852|1706/2106|569/701||,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/20|n.*413C>T|||||5156|,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57C>T|||||3443|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575C>T|||||4670|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777C>T|||||4506|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2971G>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1411C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-642C>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1411C>T||||||,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/20|n.*413C>T||||||
22	38051329	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.1744G>A|p.Gly582Ser|2057/2852|1744/2106|582/701||,A|splice_region_variant&intron_variant|LOW|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*444+7G>A||||||,A|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57G>A|||||3405|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000442465|protein_coding||c.*1575G>A|||||4708|,A|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777G>A|||||4544|,A|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2933C>T||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1449G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-604G>A||||||,A|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1449G>A||||||
22	38051632	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000357436|protein_coding|18/18|c.2047A>T|p.Thr683Ser|2360/2852|2047/2106|683/701||,T|upstream_gene_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding||c.-57A>T|||||3102|,T|downstream_gene_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000466097|retained_intron||n.*777A>T|||||4847|,T|intron_variant|MODIFIER|Z83844.1|ENSG00000233360|transcript|ENST00000456099|antisense|1/5|n.123+2630T>A||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000417536|nonsense_mediated_decay|19/19|n.*445-301A>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|16/16|n.*1587+1752A>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000469947|retained_intron|16/16|n.2497-301A>T||||||,T|intron_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|15/15|c.1501+1752A>T||||||
22	38061576	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.589G>T|p.Ala197Ser|645/2010|589/891|197/296||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1516G>T|p.Ala506Ser|1516/2879|1516/1818|506/605||,T|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.589G>T||||||,T|5_prime_UTR_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.-63G>T|||||63|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1602G>T|||||24192|,T|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274C>A|||||3897|,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1602G>T||||||
22	38061637	.	A	T	.	.	ANN=T|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.650A>T|p.Tyr217Phe|706/2010|650/891|217/296||,T|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1577A>T|p.Tyr526Phe|1577/2879|1577/1818|526/605||,T|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.650A>T||||||,T|5_prime_UTR_variant|MODIFIER|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.-2A>T|||||2|,T|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1663A>T|||||24253|,T|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274T>A|||||3836|,T|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1663A>T||||||
22	38061816	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000215904|protein_coding|2/2|c.829G>A|p.Asp277Asn|885/2010|829/891|277/296||,A|missense_variant|MODERATE|SH3BP1|ENSG00000100092|transcript|ENST00000599616|protein_coding|16/16|c.1756G>A|p.Asp586Asn|1756/2879|1756/1818|586/605||,A|missense_variant|MODERATE|PDXP|ENSG00000241360|transcript|ENST00000403251|protein_coding|2/2|c.178G>A|p.Asp60Asn|448/1571|178/240|60/79||,A|sequence_feature|LOW|PDXP|ENSG00000241360|helix|ENST00000215904|protein_coding|2/2|c.829G>A||||||,A|3_prime_UTR_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1842G>A|||||24432|,A|downstream_gene_variant|MODIFIER|RN7SL385P|ENSG00000241333|transcript|ENST00000468873|misc_RNA||n.*274C>T|||||3657|,A|non_coding_exon_variant|MODIFIER|SH3BP1|ENSG00000100092|transcript|ENST00000451997|nonsense_mediated_decay|17/17|n.*1842G>A||||||
22	38074614	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|3/4|c.214G>A|p.Glu72Lys|309/560|214/408|72/135||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.214G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.214G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.214G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|region_of_interest:Beta-galactoside_binding|ENST00000215909|protein_coding|3/4|c.214G>A||||||,A|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*134G>A|||||1551|,A|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*114G>A|||||114|,A|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>A|||||3066|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303G>A|||||1379|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185G>A|||||1011|,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|3/4|n.*134G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay|4/5|n.*114G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|3/4|n.269G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|2/3|n.299G>A||||||
22	38075683	.	G	A	.	.	ANN=A|missense_variant|MODERATE|LGALS1|ENSG00000100097|transcript|ENST00000215909|protein_coding|4/4|c.335G>A|p.Arg112His|430/560|335/408|112/135||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|2/4|c.335G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|3/4|c.335G>A||||||,A|sequence_feature|LOW|LGALS1|ENSG00000100097|domain:Galectin|ENST00000215909|protein_coding|4/4|c.335G>A||||||,A|3_prime_UTR_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*255G>A|||||2620|,A|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript||n.-1G>A|||||1997|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000464120|retained_intron||n.*303G>A|||||2448|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000480207|processed_transcript||n.*185G>A|||||2080|,A|downstream_gene_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000454173|nonsense_mediated_decay||n.*132G>A|||||36|,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000425542|nonsense_mediated_decay|4/4|n.*255G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000489315|processed_transcript|4/4|n.390G>A||||||,A|non_coding_exon_variant|MODIFIER|LGALS1|ENSG00000100097|transcript|ENST00000472321|retained_intron|3/3|n.420G>A||||||
22	38082421	.	A	C	.	.	ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.22A>C|p.Lys8Gln|92/2852|22/642|8/213||,C|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1A>C|||||1371|,C|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1496A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.22A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.72A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.69A>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/28|n.1A>C||||||
22	38082442	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.43C>T|p.Arg15Trp|113/2852|43/642|15/213||,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1C>T|||||1350|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1475C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.43C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.93C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.90C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/28|n.22C>T||||||
22	38082479	.	G	T	.	.	ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|1/6|c.80G>T|p.Arg27Met|150/2852|80/642|27/213||,T|upstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron||n.-1G>T|||||1313|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|1/6|n.221-1438G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|1/7|n.80G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|1/2|n.130G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|1/5|n.127G>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|1/28|n.59G>T||||||
22	38083979	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|2/6|c.146T>C|p.Ile49Thr|216/2852|146/642|49/213||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|2/7|n.283T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|2/7|n.146T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron|2/2|n.196T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|2/5|n.193T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|2/28|n.125T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|1/5|n.188T>C||||||
22	38084896	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|4/6|c.278C>T|p.Thr93Met|348/2852|278/642|93/213||,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||590|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|4/7|n.415C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|4/7|n.278C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|4/5|n.325C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|4/28|n.257C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|3/5|n.320C>T||||||
22	38084910	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|4/6|c.292T>C|p.Tyr98His|362/2852|292/642|98/213||,C|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523T>C|||||604|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|4/7|n.429T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|4/7|n.292T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|4/5|n.339T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|4/28|n.271T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|3/5|n.334T>C||||||
22	38086725	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.403G>A|p.Glu135Lys|473/2852|403/642|135/213||,A|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>A|||||2419|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.540G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.403G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.450G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.382G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.445G>A||||||
22	38086744	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.422C>T|p.Thr141Met|492/2852|422/642|141/213||,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||2438|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.559C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.422C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.469C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.401C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.464C>T||||||
22	38086785	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|5/6|c.463C>T|p.Pro155Ser|533/2852|463/642|155/213||,T|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523C>T|||||2479|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|5/7|n.600C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|5/7|n.463C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron|5/5|n.510C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|5/28|n.442C>T||||||,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|4/5|n.505C>T||||||
22	38087237	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.536A>G|p.Lys179Arg|606/2852|536/642|179/213||,G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523A>G|||||2931|,G|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632A>G|||||330|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.673A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.536A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.515A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.578A>G||||||
22	38087309	.	G	C	.	.	ANN=C|missense_variant|MODERATE|NOL12|ENSG00000100101|transcript|ENST00000359114|protein_coding|6/6|c.608G>C|p.Arg203Pro|678/2852|608/642|203/213||,C|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000474032|retained_intron||n.*523G>C|||||3003|,C|downstream_gene_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000468597|retained_intron||n.*632G>C|||||402|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000493862|processed_transcript|6/7|n.745G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000438329|nonsense_mediated_decay|6/7|n.608G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|6/28|n.587G>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000484650|retained_intron|5/5|n.650G>C||||||
22	38106473	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|4/24|c.154G>A|p.Asp52Asn|409/10129|154/7098|52/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/28|n.*490G>A|||||19130|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|10/28|n.*490G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/5|n.290G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/22|n.154G>A||||||
22	38109227	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.265C>G|p.Pro89Ala|520/10129|265/7098|89/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*601C>G|||||21884|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2543C>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2543C>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*601C>G||||||
22	38109327	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.365T>C|p.Leu122Ser|620/10129|365/7098|122/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*701T>C|||||21984|,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2443T>C||||||,C|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2443T>C||||||,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*701T>C||||||
22	38109353	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.391G>A|p.Gly131Ser|646/10129|391/7098|131/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*727G>A|||||22010|,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2417G>A||||||,A|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2417G>A||||||,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*727G>A||||||
22	38109371	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|5/24|c.409A>G|p.Ser137Gly|664/10129|409/7098|137/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*745A>G|||||22028|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|3/4|n.391-2399A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|3/21|n.255-2399A>G||||||,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|11/28|n.*745A>G||||||
22	38111789	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.476G>A|p.Arg159Lys|731/10129|476/7098|159/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*812G>A|||||24446|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*812G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.410G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.274G>A||||||
22	38111790	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.477G>T|p.Arg159Ser|732/10129|477/7098|159/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*813G>T|||||24447|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*813G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.411G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.275G>T||||||
22	38111817	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.504C>A|p.Asp168Glu|759/10129|504/7098|168/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*840C>A|||||24474|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*840C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.438C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.302C>A||||||
22	38111897	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|6/24|c.584C>T|p.Thr195Ile|839/10129|584/7098|195/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*920C>T|||||24554|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.*67C>T|||||67|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|12/28|n.*920C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|4/5|n.518C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|4/22|n.*67C>T||||||
22	38119213	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.650G>A|p.Ser217Asn|905/10129|650/7098|217/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*986G>A|||||31870|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*133G>A|||||7383|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*986G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.584G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*133G>A||||||
22	38119239	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.676C>T|p.Arg226Trp|931/10129|676/7098|226/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1012C>T|||||31896|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*159C>T|||||7409|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1012C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.610C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*159C>T||||||
22	38119272	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.709C>T|p.Arg237Trp|964/10129|709/7098|237/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1045C>T|||||31929|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*192C>T|||||7442|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1045C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.643C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*192C>T||||||
22	38119330	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.767C>T|p.Thr256Met|1022/10129|767/7098|256/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1103C>T|||||31987|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*250C>T|||||7500|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1103C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.701C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*250C>T||||||
22	38119378	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.815C>A|p.Thr272Lys|1070/10129|815/7098|272/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1151C>A|||||32035|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*298C>A|||||7548|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1151C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.749C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*298C>A||||||
22	38119476	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.913A>C|p.Thr305Pro|1168/10129|913/7098|305/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1249A>C|||||32133|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*396A>C|||||7646|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1249A>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.847A>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*396A>C||||||
22	38119514	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.951G>T|p.Glu317Asp|1206/10129|951/7098|317/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1287G>T|||||32171|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*434G>T|||||7684|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1287G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.885G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*434G>T||||||
22	38119527	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.964G>T|p.Ala322Ser|1219/10129|964/7098|322/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1300G>T|||||32184|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*447G>T|||||7697|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1300G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.898G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*447G>T||||||
22	38119545	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.982G>A|p.Asp328Asn|1237/10129|982/7098|328/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1318G>A|||||32202|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*465G>A|||||7715|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1318G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.916G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*465G>A||||||
22	38119695	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1132C>T|p.Pro378Ser|1387/10129|1132/7098|378/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1468C>T|||||32352|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*615C>T|||||7865|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*1468C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1066C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*615C>T||||||
22	38120542	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.1979C>T|p.Ala660Val|2234/10129|1979/7098|660/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2315C>T|||||33199|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1462C>T|||||8712|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2315C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.1913C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1462C>T||||||
22	38120688	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2125T>G|p.Ser709Ala|2380/10129|2125/7098|709/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2461T>G|||||33345|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1608T>G|||||8858|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2461T>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2059T>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1608T>G||||||
22	38120712	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2149C>G|p.Gln717Glu|2404/10129|2149/7098|717/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2485C>G|||||33369|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1632C>G|||||8882|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2485C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2083C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1632C>G||||||
22	38120740	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2177G>A|p.Arg726Gln|2432/10129|2177/7098|726/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2513G>A|||||33397|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1660G>A|||||8910|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2513G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2111G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1660G>A||||||
22	38120797	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2234G>A|p.Arg745Lys|2489/10129|2234/7098|745/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2570G>A|||||33454|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1717G>A|||||8967|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2570G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2168G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1717G>A||||||
22	38120955	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2392C>T|p.Arg798Trp|2647/10129|2392/7098|798/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2728C>T|||||33612|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1875C>T|||||9125|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2728C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2326C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1875C>T||||||
22	38120956	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2393G>A|p.Arg798Gln|2648/10129|2393/7098|798/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2729G>A|||||33613|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1876G>A|||||9126|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2729G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2327G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1876G>A||||||
22	38120995	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2432A>G|p.Gln811Arg|2687/10129|2432/7098|811/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2768A>G|||||33652|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1915A>G|||||9165|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2768A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2366A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1915A>G||||||
22	38121013	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2450C>G|p.Thr817Ser|2705/10129|2450/7098|817/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2786C>G|||||33670|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1933C>G|||||9183|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2786C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2384C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1933C>G||||||
22	38121040	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2477C>T|p.Ser826Leu|2732/10129|2477/7098|826/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2813C>T|||||33697|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1960C>T|||||9210|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2813C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2411C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*1960C>T||||||
22	38121152	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2589C>A|p.Asn863Lys|2844/10129|2589/7098|863/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2925C>A|||||33809|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2072C>A|||||9322|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*2925C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2523C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2072C>A||||||
22	38121258	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2695C>G|p.Arg899Gly|2950/10129|2695/7098|899/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3031C>G|||||33915|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2178C>G|||||9428|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3031C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2629C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2178C>G||||||
22	38121486	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2923C>T|p.Arg975Trp|3178/10129|2923/7098|975/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3259C>T|||||34143|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2406C>T|||||9656|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3259C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2857C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2406C>T||||||
22	38121502	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2939C>T|p.Ser980Phe|3194/10129|2939/7098|980/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3275C>T|||||34159|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2422C>T|||||9672|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3275C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2873C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2422C>T||||||
22	38121555	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.2992G>A|p.Ala998Thr|3247/10129|2992/7098|998/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3328G>A|||||34212|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2475G>A|||||9725|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3328G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.2926G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2475G>A||||||
22	38121631	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3068C>T|p.Ala1023Val|3323/10129|3068/7098|1023/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3404C>T|||||34288|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2551C>T|||||9801|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3404C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3002C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2551C>T||||||
22	38121652	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3089C>G|p.Pro1030Arg|3344/10129|3089/7098|1030/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3425C>G|||||34309|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2572C>G|||||9822|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3425C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3023C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2572C>G||||||
22	38121696	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3133C>T|p.Arg1045Cys|3388/10129|3133/7098|1045/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3469C>T|||||34353|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2616C>T|||||9866|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3469C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3067C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2616C>T||||||
22	38121795	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3232C>T|p.Arg1078Cys|3487/10129|3232/7098|1078/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3568C>T|||||34452|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2715C>T|||||9965|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3568C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3166C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*2715C>T||||||
22	38122122	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3559T>C|p.Phe1187Leu|3814/10129|3559/7098|1187/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3895T>C|||||34779|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3042T>C|||||10292|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3895T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3493T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3042T>C||||||
22	38122170	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3607A>G|p.Thr1203Ala|3862/10129|3607/7098|1203/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3943A>G|||||34827|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3090A>G|||||10340|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3943A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3541A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3090A>G||||||
22	38122198	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3635T>A|p.Leu1212Gln|3890/10129|3635/7098|1212/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3971T>A|||||34855|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3118T>A|||||10368|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*3971T>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3569T>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3118T>A||||||
22	38122252	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3689C>T|p.Pro1230Leu|3944/10129|3689/7098|1230/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4025C>T|||||34909|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3172C>T|||||10422|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4025C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3623C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3172C>T||||||
22	38122462	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|7/24|c.3899A>G|p.His1300Arg|4154/10129|3899/7098|1300/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4235A>G|||||35119|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3382A>G|||||10632|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|13/28|n.*4235A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000492485|retained_intron|5/5|n.3833A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|5/22|n.*3382A>G||||||
22	38130442	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4099C>T|p.Arg1367Trp|4354/10129|4099/7098|1367/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4320C>T|||||43099|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3582C>T|||||18612|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4320C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3582C>T||||||
22	38130446	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4103G>A|p.Arg1368Gln|4358/10129|4103/7098|1368/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4324G>A|||||43103|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3586G>A|||||18616|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4324G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3586G>A||||||
22	38130459	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4116G>T|p.Glu1372Asp|4371/10129|4116/7098|1372/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4337G>T|||||43116|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3599G>T|||||18629|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4337G>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3599G>T||||||
22	38130472	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4129T>C|p.Trp1377Arg|4384/10129|4129/7098|1377/2365||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4350T>C|||||43129|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3612T>C|||||18642|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4350T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3612T>C||||||
22	38130508	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4165C>A|p.Leu1389Ile|4420/10129|4165/7098|1389/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4386C>A|||||43165|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3648C>A|||||18678|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4386C>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3648C>A||||||
22	38130521	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4178C>T|p.Pro1393Leu|4433/10129|4178/7098|1393/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4399C>T|||||43178|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3661C>T|||||18691|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4399C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3661C>T||||||
22	38130676	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4333A>G|p.Arg1445Gly|4588/10129|4333/7098|1445/2365||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4554A>G|||||43333|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3816A>G|||||18846|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4554A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3816A>G||||||
22	38130827	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4484A>T|p.Glu1495Val|4739/10129|4484/7098|1495/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4705A>T|||||43484|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3967A>T|||||18997|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4705A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*3967A>T||||||
22	38130910	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4567G>A|p.Ala1523Thr|4822/10129|4567/7098|1523/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4788G>A|||||43567|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4050G>A|||||19080|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4788G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4050G>A||||||
22	38130986	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4643C>T|p.Pro1548Leu|4898/10129|4643/7098|1548/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4864C>T|||||43643|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4126C>T|||||19156|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4864C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4126C>T||||||
22	38131043	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.4700G>A|p.Arg1567Gln|4955/10129|4700/7098|1567/2365||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4921G>A|||||43700|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4183G>A|||||19213|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*4921G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4183G>A||||||
22	38131373	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|9/24|c.5030C>T|p.Thr1677Ile|5285/10129|5030/7098|1677/2365||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5251C>T|||||44030|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4513C>T|||||19543|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|14/28|n.*5251C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|7/22|n.*4513C>T||||||
22	38136941	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|11/24|c.5224C>T|p.Leu1742Phe|5479/10129|5224/7098|1742/2365||,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/22|n.*4707C>T|||||25111|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|15/27|n.*5405+2215C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|9/22|n.*4707C>T||||||
22	38150908	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|13/24|c.5404A>T|p.Thr1802Ser|5659/10129|5404/7098|1802/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|3/8|c.265A>T|p.Thr89Ser|275/2125|265/1296|89/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|3/14|c.265A>T|p.Thr89Ser|270/2324|265/1959|89/652||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|3/6|c.142A>T|p.Thr48Ser|286/939|142/795|48/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|3/5|c.52A>T|p.Thr18Ser|388/586|52/250|18/82||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|3/6|c.52A>T|p.Thr18Ser|201/919|52/770|18/255||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5404A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.265A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.265A>T||||||,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|11/22|n.*4887A>T|||||39078|,T|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|16/27|n.*5463-15A>T||||||,T|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|2/4|c.208-200A>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|11/22|n.*4887A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|4/7|n.270A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron|1/2|n.20A>T||||||
22	38151567	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|15/24|c.5588C>T|p.Ala1863Val|5843/10129|5588/7098|1863/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|5/8|c.449C>T|p.Ala150Val|459/2125|449/1296|150/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|5/14|c.449C>T|p.Ala150Val|454/2324|449/1959|150/652||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|4/5|c.308C>T|p.Ala103Val|309/931|308/930|103/309||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|5/6|c.326C>T|p.Ala109Val|470/939|326/795|109/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding|5/5|c.236C>T|p.Ala79Val|572/586|236/250|79/82||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|5/6|c.236C>T|p.Ala79Val|385/919|236/770|79/255||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5588C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.449C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.449C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5632C>T|||||64224|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5071C>T|||||39737|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*145C>T|||||620|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||50|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5632C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5071C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*145C>T||||||
22	38151606	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|15/24|c.5627G>A|p.Arg1876Gln|5882/10129|5627/7098|1876/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|5/8|c.488G>A|p.Arg163Gln|498/2125|488/1296|163/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|5/14|c.488G>A|p.Arg163Gln|493/2324|488/1959|163/652||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|4/5|c.347G>A|p.Arg116Gln|348/931|347/930|116/309||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|5/6|c.365G>A|p.Arg122Gln|509/939|365/795|122/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|5/6|c.275G>A|p.Arg92Gln|424/919|275/770|92/255||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|15/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|13/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|12/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000406386|protein_coding|14/24|c.5627G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|5/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|3/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|2/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000407319|protein_coding|4/8|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|5/14|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|3/14|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|2/14|c.488G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|domain:PH|ENST00000403663|protein_coding|4/14|c.488G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5671G>A|||||64263|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5110G>A|||||39776|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*184G>A|||||659|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||89|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|19/28|n.*5671G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|13/22|n.*5110G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|6/7|n.*184G>A||||||
22	38153696	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5764C>T|p.Arg1922Trp|6019/10129|5764/7098|1922/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.625C>T|p.Arg209Trp|635/2125|625/1296|209/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.625C>T|p.Arg209Trp|630/2324|625/1959|209/652||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.484C>T|p.Arg162Trp|485/931|484/930|162/309||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.502C>T|p.Arg168Trp|646/939|502/795|168/264||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.412C>T|p.Arg138Trp|561/919|412/770|138/255||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5805C>T|||||66353|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5247C>T|||||41866|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*321C>T|||||2749|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||2115|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||2179|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5805C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5247C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*321C>T||||||
22	38153699	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5767G>A|p.Ala1923Thr|6022/10129|5767/7098|1923/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.628G>A|p.Ala210Thr|638/2125|628/1296|210/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.628G>A|p.Ala210Thr|633/2324|628/1959|210/652||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.487G>A|p.Ala163Thr|488/931|487/930|163/309||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.505G>A|p.Ala169Thr|649/939|505/795|169/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.415G>A|p.Ala139Thr|564/919|415/770|139/255||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5808G>A|||||66356|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5250G>A|||||41869|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*324G>A|||||2752|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||2118|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||2182|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5808G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5250G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*324G>A||||||
22	38153835	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|16/24|c.5903G>A|p.Arg1968His|6158/10129|5903/7098|1968/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|6/8|c.764G>A|p.Arg255His|774/2125|764/1296|255/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|6/14|c.764G>A|p.Arg255His|769/2324|764/1959|255/652||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding|5/5|c.623G>A|p.Arg208His|624/931|623/930|208/309||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding|6/6|c.641G>A|p.Arg214His|785/939|641/795|214/264||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding|6/6|c.551G>A|p.Arg184His|700/919|551/770|184/255||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5944G>A|||||66492|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5386G>A|||||42005|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*460G>A|||||2888|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||2254|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||2318|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|20/28|n.*5944G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|14/22|n.*5386G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay|7/7|n.*460G>A||||||
22	38155195	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6248G>A|p.Arg2083His|6503/10129|6248/7098|2083/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1109G>A|p.Arg370His|1119/2125|1109/1296|370/431||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1109G>A|p.Arg370His|1114/2324|1109/1959|370/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6248G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1109G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1109G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6289G>A|||||67852|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5731G>A|||||43365|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>A|||||1053|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>A|||||1225|,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>A|||||1206|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>A|||||3614|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>A|||||1141|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>A|||||3678|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6289G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5731G>A||||||
22	38155219	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6272G>C|p.Ser2091Thr|6527/10129|6272/7098|2091/2365||,C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1133G>C|p.Ser378Thr|1143/2125|1133/1296|378/431||,C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1133G>C|p.Ser378Thr|1138/2324|1133/1959|378/652||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6272G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1133G>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1133G>C||||||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6313G>C|||||67876|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5755G>C|||||43389|,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931G>C|||||1077|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309G>C|||||1249|,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939G>C|||||1230|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586G>C|||||3638|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919G>C|||||1165|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513G>C|||||3702|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6313G>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5755G>C||||||
22	38155255	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/24|c.6308C>T|p.Pro2103Leu|6563/10129|6308/7098|2103/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|7/8|c.1169C>T|p.Pro390Leu|1179/2125|1169/1296|390/431||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/14|c.1169C>T|p.Pro390Leu|1174/2324|1169/1959|390/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6308C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1169C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1169C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6349C>T|||||67912|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5791C>T|||||43425|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931C>T|||||1113|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309C>T|||||1285|,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939C>T|||||1266|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586C>T|||||3674|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919C>T|||||1201|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513C>T|||||3738|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/28|n.*6349C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/22|n.*5791C>T||||||
22	38155497	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000407319|protein_coding|8/8|c.1259A>G|p.Lys420Arg|1269/2125|1259/1296|420/431||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6324+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1185+226A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1185+226A>G||||||,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000428075|protein_coding||c.*931A>G|||||1355|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000413051|nonsense_mediated_decay||n.*309A>G|||||1527|,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000418339|protein_coding||c.*939A>G|||||1508|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000452519|protein_coding||c.*586A>G|||||3916|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000417857|protein_coding||c.*919A>G|||||1443|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000331103|retained_intron||n.*513A>G|||||3980|,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|17/23|c.6324+226A>G||||||,G|intron_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|21/27|n.*6365+226A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|15/21|n.*5807+226A>G||||||,G|intron_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|7/13|c.1185+226A>G||||||
22	38164164	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|19/24|c.6556G>A|p.Gly2186Ser|6811/10129|6556/7098|2186/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|9/14|c.1417G>A|p.Gly473Ser|1422/2324|1417/1959|473/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6556G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1417G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1417G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6597G>A|||||76821|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6039G>A|||||52334|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6597G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6039G>A||||||
22	38164179	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|19/24|c.6571C>T|p.His2191Tyr|6826/10129|6571/7098|2191/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|9/14|c.1432C>T|p.His478Tyr|1437/2324|1432/1959|478/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6571C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1432C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1432C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6612C>T|||||76836|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6054C>T|||||52349|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|23/28|n.*6612C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|17/22|n.*6054C>T||||||
22	38165091	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/24|c.6632A>T|p.Gln2211Leu|6887/10129|6632/7098|2211/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/14|c.1493A>T|p.Gln498Leu|1498/2324|1493/1959|498/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6632A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1493A>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1493A>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6673A>T|||||77748|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6115A>T|||||53261|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6673A>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6115A>T||||||
22	38165151	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/24|c.6692G>A|p.Arg2231His|6947/10129|6692/7098|2231/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/14|c.1553G>A|p.Arg518His|1558/2324|1553/1959|518/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6692G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1553G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1553G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6733G>A|||||77808|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6175G>A|||||53321|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6733G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6175G>A||||||
22	38165153	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|20/24|c.6694C>T|p.Arg2232Cys|6949/10129|6694/7098|2232/2365||,T|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|10/14|c.1555C>T|p.Arg519Cys|1560/2324|1555/1959|519/652||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|18/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|17/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|19/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|20/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|16/24|c.6694C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|8/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|7/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|9/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|10/14|c.1555C>T||||||,T|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|6/14|c.1555C>T||||||,T|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6735C>T|||||77810|,T|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6177C>T|||||53323|,T|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|24/28|n.*6735C>T||||||,T|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|18/22|n.*6177C>T||||||
22	38165302	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/24|c.6769C>G|p.Gln2257Glu|7024/10129|6769/7098|2257/2365||,G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/14|c.1630C>G|p.Gln544Glu|1635/2324|1630/1959|544/652||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6810C>G|||||77959|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6252C>G|||||53472|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6810C>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6252C>G||||||
22	38165339	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|21/24|c.6806A>G|p.Asn2269Ser|7061/10129|6806/7098|2269/2365||,G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|11/14|c.1667A>G|p.Asn556Ser|1672/2324|1667/1959|556/652||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6847A>G|||||77996|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6289A>G|||||53509|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|25/28|n.*6847A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|19/22|n.*6289A>G||||||
22	38167669	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/24|c.6862G>A|p.Val2288Ile|7117/10129|6862/7098|2288/2365||,A|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/14|c.1723G>A|p.Val575Ile|1728/2324|1723/1959|575/652||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6862G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6862G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6862G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1723G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1723G>A||||||,A|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1723G>A||||||,A|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6903G>A|||||80326|,A|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6345G>A|||||55839|,A|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6903G>A||||||,A|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6345G>A||||||
22	38167706	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|22/24|c.6899T>C|p.Val2300Ala|7154/10129|6899/7098|2300/2365||,C|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|12/14|c.1760T>C|p.Val587Ala|1765/2324|1760/1959|587/652||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6899T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6899T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6899T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1760T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1760T>C||||||,C|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1760T>C||||||,C|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6940T>C|||||80363|,C|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6382T>C|||||55876|,C|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|26/28|n.*6940T>C||||||,C|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|20/22|n.*6382T>C||||||
22	38168645	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000406386|protein_coding|23/24|c.6974A>G|p.Tyr2325Cys|7229/10129|6974/7098|2325/2365||,G|missense_variant|MODERATE|TRIOBP|ENSG00000100106|transcript|ENST00000403663|protein_coding|13/14|c.1835A>G|p.Tyr612Cys|1840/2324|1835/1959|612/652||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|21/24|c.6974A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|22/24|c.6974A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000406386|protein_coding|23/24|c.6974A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|11/14|c.1835A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|12/14|c.1835A>G||||||,G|sequence_feature|LOW|TRIOBP|ENSG00000100106|coiled-coil_region|ENST00000403663|protein_coding|13/14|c.1835A>G||||||,G|3_prime_UTR_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|27/28|n.*7015A>G|||||81302|,G|3_prime_UTR_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|21/22|n.*6457A>G|||||56815|,G|non_coding_exon_variant|MODIFIER|NOL12|ENSG00000100101|transcript|ENST00000455236|nonsense_mediated_decay|27/28|n.*7015A>G||||||,G|non_coding_exon_variant|MODIFIER|TRIOBP|ENSG00000100106|transcript|ENST00000344404|nonsense_mediated_decay|21/22|n.*6457A>G||||||
22	38202015	.	A	G	.	.	ANN=G|missense_variant|MODERATE|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding|1/1|c.464A>G|p.Lys155Arg|902/2329|464/585|155/194||,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding||c.-64A>G|||||1897|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding||c.-57A>G|||||1904|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.-53A>G|||||1908|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.-1A>G|||||1915|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.-1A>G|||||1926|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.-31A>G|||||1930|,G|upstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.-3A>G|||||2006|WARNING_TRANSCRIPT_NO_START_CODON
22	38204029	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.55C>T|p.Arg19Cys|118/1656|55/1338|19/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.55C>T|p.Arg19Cys|111/1495|55/1260|19/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.55C>T|p.Arg19Cys|107/583|55/531|19/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.7C>T|p.Arg3Cys|9/716|7/714|3/237||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000323205|protein_coding|1/10|c.55C>T||||||,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000248924|protein_coding|1/9|c.55C>T||||||,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||587|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.100C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.89C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.55C>T||||||
22	38204033	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.59C>T|p.Ala20Val|122/1656|59/1338|20/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.59C>T|p.Ala20Val|115/1495|59/1260|20/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.59C>T|p.Ala20Val|111/583|59/531|20/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.11C>T|p.Ala4Val|13/716|11/714|4/237||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000323205|protein_coding|1/10|c.59C>T||||||,T|sequence_feature|LOW|GCAT|ENSG00000100116|transit_peptide:Mitochondrion|ENST00000248924|protein_coding|1/9|c.59C>T||||||,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||591|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.104C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.93C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.59C>T||||||
22	38204089	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|1/10|c.115C>T|p.Arg39Cys|178/1656|115/1338|39/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/9|c.115C>T|p.Arg39Cys|171/1495|115/1260|39/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|1/4|c.115C>T|p.Arg39Cys|167/583|115/531|39/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/4|c.67C>T|p.Arg23Cys|69/716|67/714|23/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||647|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/3|n.160C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/3|n.149C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/4|n.115C>T||||||
22	38205989	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/10|c.230T>C|p.Leu77Ser|293/1656|230/1338|77/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/4|c.230T>C|p.Leu77Ser|282/583|230/531|77/176||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023T>C|||||2547|,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|1/8|c.197-45T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+1819T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|1/2|n.231-45T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+1819T>C||||||,C|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|1/3|c.149-45T>C||||||WARNING_TRANSCRIPT_NO_START_CODON
22	38206081	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/10|c.322C>T|p.Pro108Ser|385/1656|322/1338|108/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|2/9|c.244C>T|p.Pro82Ser|300/1495|244/1260|82/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/4|c.322C>T|p.Pro108Ser|374/583|322/531|108/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|2/4|c.196C>T|p.Pro66Ser|198/716|196/714|66/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023C>T|||||2639|,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+1911C>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+1911C>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|2/3|n.278C>T||||||
22	38206124	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|2/10|c.365G>T|p.Gly122Val|428/1656|365/1338|122/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|2/9|c.287G>T|p.Gly96Val|343/1495|287/1260|96/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|2/4|c.365G>T|p.Gly122Val|417/583|365/531|122/176||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|2/4|c.239G>T|p.Gly80Val|241/716|239/714|80/237||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|H1F0|ENSG00000189060|transcript|ENST00000340857|protein_coding||c.*1023G>T|||||2682|,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|1/2|n.241+1954G>T||||||,T|intron_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|1/3|n.196+1954G>T||||||,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|2/3|n.321G>T||||||
22	38208984	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|3/10|c.496G>C|p.Gly166Arg|559/1656|496/1338|166/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|3/9|c.418G>C|p.Gly140Arg|474/1495|418/1260|140/419||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding|3/4|c.496G>C|p.Gly166Arg|548/583|496/531|166/176||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|3/4|c.370G>C|p.Gly124Arg|372/716|370/714|124/237||WARNING_TRANSCRIPT_NO_START_CODON,C|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|2/4|n.*11G>C|||||11|,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript|2/3|n.332G>C||||||,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron|3/3|n.452G>C||||||,C|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|2/4|n.*11G>C||||||
22	38209527	.	A	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|4/10|c.565A>T|p.Ile189Phe|628/1656|565/1338|189/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|4/9|c.487A>T|p.Ile163Phe|543/1495|487/1260|163/419||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding|4/4|c.625A>T|p.Ile209Phe|627/716|625/714|209/237||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*80A>T|||||554|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583A>T|||||220|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552A>T|||||35|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551A>T|||||444|,T|non_coding_exon_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay|3/4|n.*80A>T||||||
22	38211281	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|5/10|c.803C>G|p.Thr268Arg|866/1656|803/1338|268/445||,G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|5/9|c.725C>G|p.Thr242Arg|781/1495|725/1260|242/419||,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>G|||||1974|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>G|||||1789|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>G|||||2198|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>G|||||66|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>G|||||1665|WARNING_TRANSCRIPT_NO_START_CODON
22	38211445	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|6/10|c.830G>A|p.Gly277Asp|893/1656|830/1338|277/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|6/9|c.752G>A|p.Gly251Asp|808/1495|752/1260|251/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||2138|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||1953|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||2362|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||230|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||1829|WARNING_TRANSCRIPT_NO_START_CODON
22	38211711	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|7/10|c.934C>T|p.Arg312Trp|997/1656|934/1338|312/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|7/9|c.856C>T|p.Arg286Trp|912/1495|856/1260|286/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||2404|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2219|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||2628|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||496|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2095|WARNING_TRANSCRIPT_NO_START_CODON
22	38212243	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1101C>G|p.Ile367Met|1164/1656|1101/1338|367/445||,G|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1023C>G|p.Ile341Met|1079/1495|1023/1260|341/419||,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>G|||||2936|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>G|||||2751|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>G|||||3160|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>G|||||1028|,G|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>G|||||2627|WARNING_TRANSCRIPT_NO_START_CODON
22	38212254	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1112G>A|p.Ser371Asn|1175/1656|1112/1338|371/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1034G>A|p.Ser345Asn|1090/1495|1034/1260|345/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||2947|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||2762|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3171|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1039|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||2638|WARNING_TRANSCRIPT_NO_START_CODON
22	38212289	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1147C>T|p.Arg383Trp|1210/1656|1147/1338|383/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1069C>T|p.Arg357Trp|1125/1495|1069/1260|357/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||2982|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||2797|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||3206|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||1074|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||2673|WARNING_TRANSCRIPT_NO_START_CODON
22	38212302	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|8/10|c.1160G>C|p.Arg387Pro|1223/1656|1160/1338|387/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|8/9|c.1082G>C|p.Arg361Pro|1138/1495|1082/1260|361/419||,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>C|||||2995|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>C|||||2810|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>C|||||3219|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>C|||||1087|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>C|||||2686|WARNING_TRANSCRIPT_NO_START_CODON
22	38212588	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1201G>A|p.Gly401Arg|1264/1656|1201/1338|401/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1123G>A|p.Gly375Arg|1179/1495|1123/1260|375/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||3281|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||3096|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3505|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1373|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||2972|WARNING_TRANSCRIPT_NO_START_CODON
22	38212624	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1237C>T|p.Arg413Trp|1300/1656|1237/1338|413/445||,T|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1159C>T|p.Arg387Trp|1215/1495|1159/1260|387/419||,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583C>T|||||3317|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552C>T|||||3132|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551C>T|||||3541|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306C>T|||||1409|,T|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716C>T|||||3008|WARNING_TRANSCRIPT_NO_START_CODON
22	38212654	.	A	C	.	.	ANN=C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1267A>C|p.Ser423Arg|1330/1656|1267/1338|423/445||,C|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1189A>C|p.Ser397Arg|1245/1495|1189/1260|397/419||,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583A>C|||||3347|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552A>C|||||3162|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551A>C|||||3571|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306A>C|||||1439|,C|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716A>C|||||3038|WARNING_TRANSCRIPT_NO_START_CODON
22	38212673	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000323205|protein_coding|9/10|c.1286G>A|p.Arg429His|1349/1656|1286/1338|429/445||,A|missense_variant|MODERATE|GCAT|ENSG00000100116|transcript|ENST00000248924|protein_coding|9/9|c.1208G>A|p.Arg403His|1264/1495|1208/1260|403/419||,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000445195|protein_coding||c.*583G>A|||||3366|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000415371|processed_transcript||n.*552G>A|||||3181|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000478203|retained_intron||n.*551G>A|||||3590|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000426858|nonsense_mediated_decay||n.*306G>A|||||1458|,A|downstream_gene_variant|MODIFIER|GCAT|ENSG00000100116|transcript|ENST00000451984|protein_coding||c.*716G>A|||||3057|WARNING_TRANSCRIPT_NO_START_CODON
22	38219421	.	A	C	.	.	ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.8A>C|p.Asp3Ala|33/1157|8/1107|3/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.8A>C||||||
22	38219455	.	T	A,C,G	.	.	ANN=A|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.42T>A|p.Ser14Arg|67/1157|42/1107|14/368||,G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.42T>G|p.Ser14Arg|67/1157|42/1107|14/368||,C|synonymous_variant|LOW|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.42T>C|p.Ser14Ser|67/1157|42/1107|14/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.42T>A||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.42T>C||||||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.42T>G||||||
22	38219465	.	G	A,T	.	.	ANN=A|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.52G>A|p.Val18Met|77/1157|52/1107|18/368||,T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.52G>T|p.Val18Leu|77/1157|52/1107|18/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.52G>A||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.52G>T||||||
22	38219570	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.157C>G|p.Pro53Ala|182/1157|157/1107|53/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|1/2|c.157C>G||||||
22	38219622	.	G	A,C,T	.	.	ANN=A|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.209G>A|p.Cys70Tyr|234/1157|209/1107|70/368||,C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.209G>C|p.Cys70Ser|234/1157|209/1107|70/368||,T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.209G>T|p.Cys70Phe|234/1157|209/1107|70/368||,A|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.209G>A||||||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.209G>C||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.209G>T||||||
22	38219639	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.226G>C|p.Val76Leu|251/1157|226/1107|76/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|1/2|c.226G>C||||||
22	38219664	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.251C>T|p.Thr84Met|276/1157|251/1107|84/368||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.251C>T||||||
22	38219690	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|1/2|c.277C>G|p.Leu93Val|302/1157|277/1107|93/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Extracellular|ENST00000249041|protein_coding|1/2|c.277C>G||||||
22	38220948	.	A	C	.	.	ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.578A>C|p.Tyr193Ser|603/1157|578/1107|193/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.578A>C||||||
22	38221122	.	A	C	.	.	ANN=C|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.752A>C|p.His251Pro|777/1157|752/1107|251/368||,C|sequence_feature|LOW|GALR3|ENSG00000128310|transmembrane_region:Transmembrane_region|ENST00000249041|protein_coding|2/2|c.752A>C||||||
22	38221461	.	C	G,T	.	.	ANN=G|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.1091C>G|p.Ala364Gly|1116/1157|1091/1107|364/368||,T|missense_variant|MODERATE|GALR3|ENSG00000128310|transcript|ENST00000249041|protein_coding|2/2|c.1091C>T|p.Ala364Val|1116/1157|1091/1107|364/368||,G|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.1091C>G||||||,T|sequence_feature|LOW|GALR3|ENSG00000128310|topological_domain:Cytoplasmic|ENST00000249041|protein_coding|2/2|c.1091C>T||||||
22	38228673	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|7/8|c.799C>T|p.Arg267Cys|992/2184|799/903|267/300||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|7/8|c.439C>T|p.Arg147Cys|732/954|439/543|147/180||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|5/6|c.220C>T|p.Arg74Cys|638/825|220/324|74/107||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|6/7|c.751C>T|p.Arg251Cys|834/946|751/855|251/284||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|6/7|c.544C>T|p.Arg182Cys|546/623|544/621|182/206||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript||n.*456C>T|||||10|,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536C>T|||||327|,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597C>T|||||343|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735C>T|||||375|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|4/5|n.1212C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|7/8|n.400C>T||||||
22	38228981	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.704G>A|p.Arg235His|897/2184|704/903|235/300||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.344G>A|p.Arg115His|637/954|344/543|115/180||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.656G>A|p.Arg219His|739/946|656/855|219/284||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.449G>A|p.Arg150His|451/623|449/621|150/206||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.704G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.704G>A||||||,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay||n.*536G>A|||||19|,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding||c.*597G>A|||||35|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735G>A|||||67|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+185G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1117G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.305G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.371G>A||||||
22	38229019	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.666C>G|p.Ile222Met|859/2184|666/903|222/300||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.306C>G|p.Ile102Met|599/954|306/543|102/180||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.618C>G|p.Ile206Met|701/946|618/855|206/284||,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.411C>G|p.Ile137Met|413/623|411/621|137/206||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.267C>G|p.Ile89Met|594/597|267/270|89/89||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.666C>G||||||,C|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.666C>G||||||,C|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*239C>G|||||716|,C|downstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding||c.*735C>G|||||29|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+147C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1079C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.267C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.333C>G||||||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*239C>G||||||
22	38229057	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.628C>T|p.Arg210Cys|821/2184|628/903|210/300||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.268C>T|p.Arg90Cys|561/954|268/543|90/180||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.580C>T|p.Arg194Cys|663/946|580/855|194/284||,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.373C>T|p.Arg125Cys|375/623|373/621|125/206||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.229C>T|p.Arg77Cys|556/597|229/270|77/89||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|6/6|c.641C>T|p.Ser214Leu|726/735|641/650|214/215||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.628C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.628C>T||||||,A|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*201C>T|||||678|,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+109C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1041C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.229C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.295C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*201C>T||||||
22	38229061	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|6/6|c.637T>C|p.Trp213Arg|722/735|637/650|213/215||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.624T>C|p.Ala208Ala|817/2184|624/903|208/300||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.264T>C|p.Ala88Ala|557/954|264/543|88/180||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.576T>C|p.Ala192Ala|659/946|576/855|192/284||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.369T>C|p.Ala123Ala|371/623|369/621|123/206||WARNING_TRANSCRIPT_NO_START_CODON,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.225T>C|p.Ala75Ala|552/597|225/270|75/89||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|7/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_4|ENST00000215941|protein_coding|6/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.624T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.624T>C||||||,G|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*197T>C|||||674|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+105T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1037T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.225T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.291T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*197T>C||||||
22	38229083	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|6/8|c.602G>A|p.Arg201His|795/2184|602/903|201/300||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|6/8|c.242G>A|p.Arg81His|535/954|242/543|81/180||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|5/7|c.554G>A|p.Arg185His|637/946|554/855|185/284||,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|5/7|c.347G>A|p.Arg116His|349/623|347/621|116/206||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|6/6|c.203G>A|p.Arg68His|530/597|203/270|68/89||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|6/6|c.615G>A|p.Pro205Pro|700/735|615/650|205/215||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|4/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|5/8|c.602G>A||||||,T|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|6/8|c.602G>A||||||,T|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*175G>A|||||652|,T|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/5|c.141+83G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.1015G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|6/8|n.203G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|5/6|n.269G>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*175G>A||||||
22	38229191	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|4/6|c.116T>C|p.Leu39Pro|534/825|116/324|39/107||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|5/8|c.570T>C|p.Pro190Pro|763/2184|570/903|190/300||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|5/8|c.210T>C|p.Pro70Pro|503/954|210/543|70/180||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|4/7|c.522T>C|p.Pro174Pro|605/946|522/855|174/284||,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|5/6|c.171T>C|p.Pro57Pro|498/597|171/270|57/89||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|5/6|c.570T>C|p.Pro190Pro|655/735|570/650|190/215||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|4/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|5/8|c.570T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_3|ENST00000215941|protein_coding|6/8|c.570T>C||||||,G|3_prime_UTR_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*67T>C|||||544|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|4/6|c.314-75T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|3/5|n.907T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|5/8|n.171T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|4/6|n.237T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|5/5|n.*67T>C||||||
22	38229752	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|3/6|c.32C>T|p.Ser11Phe|450/825|32/324|11/107||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|4/8|c.486C>T|p.Leu162Leu|679/2184|486/903|162/300||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|4/8|c.126C>T|p.Leu42Leu|419/954|126/543|42/180||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|3/7|c.438C>T|p.Leu146Leu|521/946|438/855|146/284||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|4/7|c.252C>T|p.Leu84Leu|254/623|252/621|84/206||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|4/6|c.87C>T|p.Leu29Leu|414/597|87/270|29/89||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|4/6|c.486C>T|p.Leu162Leu|571/735|486/650|162/215||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|4/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|3/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|7/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|5/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|region_of_interest:LYN-binding|ENST00000215941|protein_coding|6/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_2|ENST00000215941|protein_coding|4/8|c.486C>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_2|ENST00000215941|protein_coding|3/8|c.486C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript|2/5|n.823C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|4/8|n.87C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|3/6|n.153C>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|4/5|n.517C>T||||||
22	38234573	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|3/8|c.409T>C|p.Cys137Arg|602/2184|409/903|137/300||,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|3/8|c.49T>C|p.Cys17Arg|342/954|49/543|17/180||,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|2/7|c.361T>C|p.Cys121Arg|444/946|361/855|121/284||,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|3/7|c.175T>C|p.Cys59Arg|177/623|175/621|59/206||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|3/6|c.409T>C|p.Cys137Arg|494/735|409/650|137/215||WARNING_TRANSCRIPT_INCOMPLETE,G|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|3/6|c.15T>C|p.Pro5Pro|342/597|15/270|5/89||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.409T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.409T>C||||||,G|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.409T>C||||||,G|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript||n.-1T>C|||||3838|,G|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|2/5|c.21+1621T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|3/8|n.15T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|2/6|n.76T>C||||||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|3/5|n.445T>C||||||
22	38234580	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ANKRD54|ENSG00000100124|transcript|ENST00000424350|protein_coding|3/6|c.8G>T|p.Arg3Leu|335/597|8/270|3/89||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000215941|protein_coding|3/8|c.402G>T|p.Ala134Ala|595/2184|402/903|134/300||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000406423|protein_coding|3/8|c.42G>T|p.Ala14Ala|335/954|42/543|14/180||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000411961|protein_coding|2/7|c.354G>T|p.Ala118Ala|437/946|354/855|118/284||,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000458278|protein_coding|3/7|c.168G>T|p.Ala56Ala|170/623|168/621|56/206||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|ANKRD54|ENSG00000100124|transcript|ENST00000434930|protein_coding|3/6|c.402G>T|p.Ala134Ala|487/735|402/650|134/215||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|3/8|c.402G>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|2/8|c.402G>T||||||,A|sequence_feature|LOW|ANKRD54|ENSG00000100124|repeat:ANK_1|ENST00000215941|protein_coding|1/8|c.402G>T||||||,A|upstream_gene_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000498417|processed_transcript||n.-1G>T|||||3845|,A|intron_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000609454|protein_coding|2/5|c.21+1614G>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000407117|nonsense_mediated_decay|3/8|n.8G>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000464849|processed_transcript|2/6|n.69G>T||||||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ENSG00000100124|transcript|ENST00000413497|nonsense_mediated_decay|3/5|n.438G>T||||||
22	38302469	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|1/16|c.40C>T|p.Arg14Cys|166/4710|40/2592|14/863||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.40C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.40C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.-1C>T|||||420|,T|intron_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|1/5|c.-107+736C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	38307970	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|2/16|c.158C>T|p.Ser53Leu|284/4710|158/2592|53/863||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-95C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.158C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.158C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.158C>T||||||,T|5_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-95C>T|||||445|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|2/4|n.609C>T||||||
22	38307992	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|2/16|c.180C>G|p.Phe60Leu|306/4710|180/2592|60/863||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-73C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.180C>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.180C>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.180C>G||||||,G|5_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|2/6|c.-73C>G|||||423|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|2/4|n.631C>G||||||
22	38308394	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|3/16|c.232G>A|p.Ala78Thr|358/4710|232/2592|78/863||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|2/16|c.232G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|1/16|c.232G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:CH|ENST00000215957|protein_coding|3/16|c.232G>A||||||,A|5_prime_UTR_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|3/6|c.-21G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|3/4|n.683G>A||||||
22	38318029	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.620C>T|p.Pro207Leu|746/4710|620/2592|207/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.368C>T|p.Pro123Leu|544/808|368/632|123/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|5/16|c.620C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|domain:LIM_zinc-binding|ENST00000215957|protein_coding|6/16|c.620C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3825|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4541|,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript|4/4|n.839C>T||||||
22	38318176	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.767G>A|p.Gly256Asp|893/4710|767/2592|256/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.515G>A|p.Gly172Asp|691/808|515/632|172/209||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.767G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.767G>A||||||,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2G>A|||||3678|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1G>A|||||4394|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853G>A|||||133|
22	38318238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.829C>T|p.Arg277Trp|955/4710|829/2592|277/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.577C>T|p.Arg193Trp|753/808|577/632|193/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.829C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.829C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3616|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4332|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||195|
22	38318262	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.853C>T|p.Arg285Trp|979/4710|853/2592|285/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.601C>T|p.Arg201Trp|777/808|601/632|201/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.853C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.853C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3592|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4308|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||219|
22	38318268	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.859C>T|p.Pro287Ser|985/4710|859/2592|287/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding|6/6|c.607C>T|p.Pro203Ser|783/808|607/632|203/209||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.859C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.859C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3586|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4302|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||225|
22	38318367	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|6/16|c.958C>T|p.Arg320Trp|1084/4710|958/2592|320/863||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.958C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.958C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2C>T|||||3487|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||4203|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||74|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||324|
22	38320673	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|7/16|c.1031T>G|p.Leu344Arg|1157/4710|1031/2592|344/863||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1031T>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1031T>G||||||,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.-2T>G|||||1181|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1T>G|||||1897|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808T>G|||||2380|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853T>G|||||2630|
22	38322014	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|8/16|c.1429C>T|p.Arg477Cys|1555/4710|1429/2592|477/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|1/7|c.160C>T|p.Arg54Cys|161/1108|160/1107|54/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1429C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1429C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.-1C>T|||||556|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000445494|protein_coding||c.*808C>T|||||3721|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000489812|processed_transcript||n.*853C>T|||||3971|
22	38323475	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1523C>T|p.Ala508Val|1649/4710|1523/2592|508/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.254C>T|p.Ala85Val|255/1108|254/1107|85/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1523C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1523C>T||||||,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.622C>T||||||
22	38323483	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1531G>A|p.Val511Met|1657/4710|1531/2592|511/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.262G>A|p.Val88Met|263/1108|262/1107|88/368||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1531G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1531G>A||||||,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.630G>A||||||
22	38323507	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1555G>T|p.Ala519Ser|1681/4710|1555/2592|519/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.286G>T|p.Ala96Ser|287/1108|286/1107|96/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1555G>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1555G>T||||||,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.654G>T||||||
22	38323700	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1748C>T|p.Pro583Leu|1874/4710|1748/2592|583/863||,T|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.479C>T|p.Pro160Leu|480/1108|479/1107|160/368||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1748C>T||||||,T|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1748C>T||||||,T|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1C>T|||||4902|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.847C>T||||||
22	38323784	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|9/16|c.1832G>A|p.Arg611Lys|1958/4710|1832/2592|611/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|2/7|c.563G>A|p.Arg188Lys|564/1108|563/1107|188/368||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1832G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1832G>A||||||,A|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1G>A|||||4818|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|2/10|n.931G>A||||||
22	38327867	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.1943A>C|p.Lys648Thr|2069/4710|1943/2592|648/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.668A>C|p.Lys223Thr|669/1108|668/1107|223/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1943A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1943A>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1A>C|||||735|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1042A>C||||||
22	38327893	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.1969G>C|p.Val657Leu|2095/4710|1969/2592|657/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.694G>C|p.Val232Leu|695/1108|694/1107|232/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.1969G>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.1969G>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1G>C|||||709|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1068G>C||||||
22	38327894	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.1970T>C|p.Val657Ala|2096/4710|1970/2592|657/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.695T>C|p.Val232Ala|696/1108|695/1107|232/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|6/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|7/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|8/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|10/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|compositionally_biased_region:Pro-rich|ENST00000215957|protein_coding|9/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.1970T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.1970T>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1T>C|||||708|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1069T>C||||||
22	38327929	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|10/16|c.2005A>C|p.Ile669Leu|2131/4710|2005/2592|669/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|3/7|c.730A>C|p.Ile244Leu|731/1108|730/1107|244/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2005A>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2005A>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1A>C|||||673|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|3/10|n.1104A>C||||||
22	38328575	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2032T>C|p.Tyr678His|2158/4710|2032/2592|678/863||,C|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.757T>C|p.Tyr253His|758/1108|757/1107|253/368||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2032T>C||||||,C|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2032T>C||||||,C|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1T>C|||||27|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1131T>C||||||
22	38328597	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2054A>G|p.His685Arg|2180/4710|2054/2592|685/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.779A>G|p.His260Arg|780/1108|779/1107|260/368||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2054A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|11/16|c.2054A>G||||||,G|upstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.-1A>G|||||5|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1153A>G||||||
22	38328618	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|11/16|c.2075A>G|p.Glu692Gly|2201/4710|2075/2592|692/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|4/7|c.800A>G|p.Glu267Gly|801/1108|800/1107|267/368||WARNING_TRANSCRIPT_NO_START_CODON,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|1/6|c.17A>G|p.Glu6Gly|17/918|17/561|6/186||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2075A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|11/16|c.2075A>G||||||,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|4/10|n.1174A>G||||||
22	38329072	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|13/16|c.2261G>A|p.Arg754His|2387/4710|2261/2592|754/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding|6/7|c.986G>A|p.Arg329His|987/1108|986/1107|329/368||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|3/6|c.203G>A|p.Arg68His|203/918|203/561|68/186||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2261G>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2261G>A||||||,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|6/10|n.1360G>A||||||
22	38333177	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|14/16|c.2399A>G|p.Asn800Ser|2525/4710|2399/2592|800/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|4/6|c.341A>G|p.Asn114Ser|341/918|341/561|114/186||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|16/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|14/16|c.2399A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|15/16|c.2399A>G||||||,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108A>G|||||17|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|7/10|n.1498A>G||||||
22	38336720	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|16/16|c.2475C>A|p.Phe825Leu|2601/4710|2475/2592|825/863||,A|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|6/6|c.444C>A|p.Phe148Leu|444/918|444/561|148/186||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|16/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|14/16|c.2475C>A||||||,A|sequence_feature|LOW|MICALL1|ENSG00000100139|coiled-coil_region|ENST00000215957|protein_coding|15/16|c.2475C>A||||||,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911G>T|||||2813|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108C>A|||||3560|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863G>T|||||2808|,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715G>T|||||3412|,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563G>T|||||3800|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>T|||||4448|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|9/10|n.1574C>A||||||
22	38336794	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding|16/16|c.2549A>G|p.Asn850Ser|2675/4710|2549/2592|850/863||,G|missense_variant|MODERATE|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding|6/6|c.518A>G|p.Asn173Ser|518/918|518/561|173/186||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|16/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|14/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|12/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|13/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|15/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|10/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:RAB-binding_domain__RBD_|ENST00000215957|protein_coding|11/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|16/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|14/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|12/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|13/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|15/16|c.2549A>G||||||,G|sequence_feature|LOW|MICALL1|ENSG00000100139|region_of_interest:Necessary_and_sufficient_to_associate_with_tubular_recycling_endosome_membranes_mediate_phosphatidic_acid-binding_and_membrane_tubulation|ENST00000215957|protein_coding|11/16|c.2549A>G||||||,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding||c.*911T>C|||||2739|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000454685|protein_coding||c.*1108A>G|||||3634|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding||c.*863T>C|||||2734|,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding||c.*715T>C|||||3338|,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563T>C|||||3726|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758T>C|||||4374|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript|9/10|n.1648A>G||||||
22	38340186	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|7/7|c.650C>T|p.Thr217Ile|907/1560|650/654|217/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|7/7|c.650C>T|p.Thr217Ile|859/1517|650/654|217/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|7/7|c.650C>T|p.Thr217Ile|711/765|650/654|217/217||,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718G>A|||||1357|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734G>A|||||2170|,A|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561G>A|||||2992|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563C>T|||||334|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758C>T|||||982|WARNING_TRANSCRIPT_INCOMPLETE
22	38340452	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|6/7|c.554G>A|p.Arg185Gln|811/1560|554/654|185/217||,T|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|6/7|c.554G>A|p.Arg185Gln|763/1517|554/654|185/217||,T|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|6/7|c.554G>A|p.Arg185Gln|615/765|554/654|185/217||,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718C>T|||||1623|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734C>T|||||2436|,T|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561C>T|||||3258|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding||c.*563G>A|||||68|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758G>A|||||716|WARNING_TRANSCRIPT_INCOMPLETE
22	38341124	.	T	G	.	.	ANN=G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|5/7|c.406A>C|p.Met136Leu|663/1560|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|5/7|c.406A>C|p.Met136Leu|615/1517|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|5/7|c.406A>C|p.Met136Leu|467/765|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|5/6|c.406A>C|p.Met136Leu|483/563|406/486|136/161||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000215957|protein_coding||c.*2718T>G|||||2295|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000402631|processed_transcript||n.*2734T>G|||||3108|,G|downstream_gene_variant|MODIFIER|MICALL1|ENSG00000100139|transcript|ENST00000424008|protein_coding||c.*561T>G|||||3930|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding||c.*758A>C|||||44|WARNING_TRANSCRIPT_INCOMPLETE
22	38347490	.	C	A	.	.	ANN=A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|3/7|c.143G>T|p.Arg48Leu|400/1560|143/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|3/7|c.143G>T|p.Arg48Leu|352/1517|143/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|3/7|c.143G>T|p.Arg48Leu|204/765|143/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|3/6|c.143G>T|p.Arg48Leu|220/563|143/486|48/161||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|2/4|c.143G>T|p.Arg48Leu|539/758|143/362|48/119||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92C>A|||||2214|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.-1C>A|||||1124|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126C>A|||||2180|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92C>A|||||2214|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90C>A|||||2216|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215C>A|||||2216|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90C>A|||||2216|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90C>A|||||2216|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78C>A|||||2228|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78C>A|||||2228|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130C>A|||||2244|,A|non_coding_exon_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense|1/1|n.519C>A||||||
22	38347491	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|3/7|c.142C>T|p.Arg48Cys|399/1560|142/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|3/7|c.142C>T|p.Arg48Cys|351/1517|142/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|3/7|c.142C>T|p.Arg48Cys|203/765|142/654|48/217||,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|3/6|c.142C>T|p.Arg48Cys|219/563|142/486|48/161||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|2/4|c.142C>T|p.Arg48Cys|538/758|142/362|48/119||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92G>A|||||2213|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript||n.-1G>A|||||1123|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126G>A|||||2179|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92G>A|||||2213|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90G>A|||||2215|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215G>A|||||2215|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90G>A|||||2215|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90G>A|||||2215|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78G>A|||||2227|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78G>A|||||2227|,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130G>A|||||2243|,A|non_coding_exon_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense|1/1|n.520G>A||||||
22	38349068	.	C	G	.	.	ANN=G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|2/7|c.89G>C|p.Cys30Ser|346/1560|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|2/7|c.89G>C|p.Cys30Ser|298/1517|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|2/7|c.89G>C|p.Cys30Ser|150/765|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|2/6|c.89G>C|p.Cys30Ser|166/563|89/486|30/161||WARNING_TRANSCRIPT_NO_STOP_CODON,G|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|1/4|c.89G>C|p.Cys30Ser|485/758|89/362|30/119||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92C>G|||||636|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126C>G|||||602|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92C>G|||||636|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90C>G|||||638|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215C>G|||||638|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90C>G|||||638|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90C>G|||||638|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78C>G|||||650|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78C>G|||||650|,G|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130C>G|||||666|,G|downstream_gene_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense||n.*814C>G|||||1283|,G|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|1/4|n.209+246C>G||||||
22	38349099	.	G	C	.	.	ANN=C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000249079|protein_coding|2/7|c.58C>G|p.Pro20Ala|315/1560|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403305|protein_coding|2/7|c.58C>G|p.Pro20Ala|267/1517|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000403026|protein_coding|2/7|c.58C>G|p.Pro20Ala|119/765|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000418863|protein_coding|2/6|c.58C>G|p.Pro20Ala|135/563|58/486|20/161||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|C22orf23|ENSG00000128346|transcript|ENST00000422191|protein_coding|1/4|c.58C>G|p.Pro20Ala|454/758|58/362|20/119||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding||c.-92G>C|||||605|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding||c.-126G>C|||||571|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.-92G>C|||||605|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.-90G>C|||||607|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding||c.-215G>C|||||607|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay||n.-90G>C|||||607|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay||n.-90G>C|||||607|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.-78G>C|||||619|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding||c.-78G>C|||||619|,C|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding||c.-130G>C|||||635|,C|downstream_gene_variant|MODIFIER|RP5-1039K5.17|ENSG00000272582|transcript|ENST00000609976|antisense||n.*814G>C|||||1314|,C|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|1/4|n.209+277G>C||||||
22	38355403	.	C	T	.	.	ANN=T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding|3/4|c.200C>T|p.Pro67Leu|289/564|200/231|67/76||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|3/6|c.141C>T|p.Ala47Ala|232/582|141/477|47/158||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|3/5|c.141C>T|p.Ala47Ala|266/2106|141/384|47/127||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|4/6|c.114C>T|p.Ala38Ala|328/550|114/336|38/111||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding|3/4|c.141C>T|p.Ala47Ala|218/760|141/297|47/98||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|3/5|c.141C>T|p.Ala47Ala|218/560|141/381|47/126||,T|synonymous_variant|LOW|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|3/5|c.126C>T|p.Ala42Ala|255/584|126/369|42/122||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding|2/2|c.149+2495C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|3/5|n.330C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|3/5|n.200C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|3/8|n.141C>T||||||
22	38363660	.	C	T	.	.	ANN=T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000442738|protein_coding|5/5|c.322C>T|p.Arg108Cys|447/2106|322/384|108/127||,T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000492213|protein_coding|6/6|c.295C>T|p.Arg99Cys|509/550|295/336|99/111||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|POLR2F|ENSG00000100142|transcript|ENST00000470701|protein_coding|5/5|c.307C>T|p.Arg103Cys|436/584|307/369|103/122||,T|sequence_feature|LOW|POLR2F|ENSG00000100142|beta_strand|ENST00000442738|protein_coding|5/5|c.322C>T||||||,T|3_prime_UTR_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|5/5|n.*150C>T|||||8226|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding||c.*1666G>A|||||4647|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000460648|protein_coding||c.*316C>T|||||277|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000488684|protein_coding||c.*320C>T|||||360|,T|downstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000606538|protein_coding||c.*374C>T|||||93|,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.*539G>A|||||3033|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding||c.*1684G>A|||||4647|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.293+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000484894|processed_transcript|4/4|n.482+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|4/7|n.293+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+483C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000483713|nonsense_mediated_decay|5/5|n.*150C>T||||||
22	38373967	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|4/5|c.604G>A|p.Ala202Thr|869/2861|604/1401|202/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|2/4|c.232G>A|p.Ala78Thr|234/1095|232/537|78/178||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|3/4|c.604G>A|p.Ala202Thr|887/2879|604/1401|202/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|3/3|c.604G>A|p.Ala202Thr|836/873|604/641|202/212||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||122|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-8194C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+5650C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+10790C>T||||||
22	38373997	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|4/5|c.574G>A|p.Gly192Ser|839/2861|574/1401|192/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding|2/4|c.202G>A|p.Gly68Ser|204/1095|202/537|68/178||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|3/4|c.574G>A|p.Gly192Ser|857/2879|574/1401|192/466||,T|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|3/3|c.574G>A|p.Gly192Ser|806/873|574/641|192/212||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript||n.*124G>A|||||92|,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-8164C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*38+5680C>T||||||,T|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+10820C>T||||||
22	38379670	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000360880|protein_coding|3/5|c.122G>T|p.Gly41Val|387/2861|122/1401|41/466||,A|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000396884|protein_coding|2/4|c.122G>T|p.Gly41Val|405/2879|122/1401|41/466||,A|missense_variant|MODERATE|SOX10|ENSG00000100146|transcript|ENST00000427770|protein_coding|2/3|c.122G>T|p.Gly41Val|354/873|122/641|41/212||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SOX10|ENSG00000100146|compositionally_biased_region:Poly-Gly|ENST00000360880|protein_coding|3/5|c.122G>T||||||,A|upstream_gene_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000446929|protein_coding||c.-3G>T|||||249|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000333418|protein_coding||c.-2C>A|||||2530|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000427034|protein_coding||c.-3C>A|||||2536|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000407936|protein_coding|4/5|c.294-2491C>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000443002|nonsense_mediated_decay|5/7|n.*39-1389C>A||||||,A|intron_variant|MODIFIER|POLR2F|ENSG00000100142|transcript|ENST00000405557|protein_coding|4/4|c.293+16493C>A||||||,A|intron_variant|MODIFIER|SOX10|ENSG00000100146|transcript|ENST00000470555|processed_transcript|1/1|n.70+676G>T||||||
22	38468504	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|9/13|c.577G>A|p.Val193Met|815/2055|577/1248|193/415||,A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|9/13|c.577G>A|p.Val193Met|924/2164|577/1248|193/415||,A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding|9/9|c.577G>A|p.Val193Met|843/954|577/688|193/228||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.577G>A||||||,A|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.577G>A||||||,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000437453|protein_coding||c.*544G>A|||||4383|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||1606|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||1606|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000466374|retained_intron||n.*826G>A|||||4412|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000435166|protein_coding||c.*559G>A|||||3412|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||769|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||490|,A|intron_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense|1/1|n.76+1368C>T||||||,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|9/12|n.816G>A||||||,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron|5/5|n.522G>A||||||
22	38470909	.	A	T	.	.	ANN=T|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|13/13|c.1018A>T|p.Thr340Ser|1256/2055|1018/1248|340/415||,T|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|13/13|c.1018A>T|p.Thr340Ser|1365/2164|1018/1248|340/415||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|6/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|13/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|11/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|12/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|7/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|10/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|8/13|c.1018A>T||||||,T|sequence_feature|LOW|PICK1|ENSG00000100151|domain:AH|ENST00000356976|protein_coding|9/13|c.1018A>T||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1T>A|||||962|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624T>A|||||3232|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954A>T|||||2294|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397A>T|||||4011|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569A>T|||||4011|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310A>T|||||3174|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555A>T|||||2895|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559A>T|||||2368|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677T>A|||||3232|,T|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|12/12|n.1740A>T||||||
22	38471068	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding|13/13|c.1177G>A|p.Gly393Arg|1415/2055|1177/1248|393/415||,A|missense_variant|MODERATE|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding|13/13|c.1177G>A|p.Gly393Arg|1524/2164|1177/1248|393/415||,A|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1C>T|||||1121|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.*1624C>T|||||3073|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000424694|protein_coding||c.*954G>A|||||2453|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000426258|nonsense_mediated_decay||n.*397G>A|||||4170|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000468288|processed_transcript||n.*569G>A|||||4170|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000432756|nonsense_mediated_decay||n.*310G>A|||||3333|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000472724|retained_intron||n.*555G>A|||||3054|,A|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000494434|retained_intron||n.*559G>A|||||2527|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.*677C>T|||||3073|,A|non_coding_exon_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron|12/12|n.1899G>A||||||
22	38474406	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1504G>A|p.Glu502Lys|1613/1878|1504/1515|502/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|5/5|c.1504G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1G>A|||||4459|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486C>T|||||2698|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595C>T|||||2698|,T|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531C>T|||||2706|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||3556|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.412G>A||||||
22	38474696	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|5/5|c.1214T>C|p.Val405Ala|1323/1878|1214/1515|405/504||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.1214T>C||||||,G|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|5/5|c.1214T>C||||||,G|upstream_gene_variant|MODIFIER|RP5-1039K5.13|ENSG00000233739|transcript|ENST00000445483|antisense||n.-1T>C|||||4749|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000356976|protein_coding||c.*1486A>G|||||2988|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000404072|protein_coding||c.*1595A>G|||||2988|,G|downstream_gene_variant|MODIFIER|PICK1|ENSG00000100151|transcript|ENST00000484021|retained_intron||n.*2531A>G|||||2996|,G|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726T>C|||||3266|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|2/2|n.122T>C||||||
22	38476946	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.1099G>A|p.Val367Met|1208/1878|1099/1515|367/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.1099G>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>A|||||3950|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>A|||||1016|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>A|||||4226|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2235G>A||||||
22	38477137	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.908G>T|p.Arg303Leu|1017/1878|908/1515|303/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.908G>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735G>T|||||3759|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726G>T|||||825|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591G>T|||||4035|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2426G>T||||||
22	38477156	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.889T>G|p.Phe297Val|998/1878|889/1515|297/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.889T>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735T>G|||||3740|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726T>G|||||806|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591T>G|||||4016|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2445T>G||||||
22	38477188	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.857C>G|p.Thr286Ser|966/1878|857/1515|286/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Extracellular|ENST00000320521|protein_coding|4/5|c.857C>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>G|||||3708|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>G|||||774|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>G|||||3984|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2477C>G||||||
22	38477275	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.770C>T|p.Ala257Val|879/1878|770/1515|257/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.770C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||3621|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||687|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||3897|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2564C>T||||||
22	38477342	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.703A>T|p.Arg235Trp|812/1878|703/1515|235/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.703A>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735A>T|||||3554|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726A>T|||||620|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591A>T|||||3830|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.107-2631A>T||||||
22	38477371	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.674C>G|p.Ala225Gly|783/1878|674/1515|225/504||,C|sequence_feature|LOW|SLC16A8|ENSG00000100156|topological_domain:Cytoplasmic|ENST00000320521|protein_coding|4/5|c.674C>G||||||,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>G|||||3525|,C|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>G|||||591|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>G|||||3801|WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2624C>G||||||
22	38477558	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|4/5|c.487C>T|p.Leu163Phe|596/1878|487/1515|163/504||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|4/5|c.487C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||3338|,A|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>T|||||404|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||3614|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2437C>T||||||
22	38477937	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|3/5|c.317C>A|p.Thr106Lys|426/1878|317/1515|106/504||,T|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.317C>A||||||,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>A|||||2959|,T|downstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.*726C>A|||||25|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>A|||||3235|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+2058C>A||||||
22	38478679	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding|2/5|c.202C>T|p.Leu68Phe|311/1878|202/1515|68/504||,A|missense_variant|MODERATE|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding|3/4|c.202C>T|p.Leu68Phe|636/726|202/292|68/96||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|3/5|c.202C>T||||||,A|sequence_feature|LOW|SLC16A8|ENSG00000100156|transmembrane_region:Transmembrane_region|ENST00000320521|protein_coding|2/5|c.202C>T||||||,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.*1735C>T|||||2217|,A|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.*591C>T|||||2493|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript|1/1|n.106+1316C>T||||||
22	38481311	.	C	A	.	.	ANN=A|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.1586G>T|p.Arg529Leu|1731/2146|1586/1590|529/529||,A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.*21G>T|||||21|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>T|||||2162|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>A|||||4823|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>T|||||1211|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>T|||||1211|WARNING_TRANSCRIPT_INCOMPLETE
22	38481347	.	G	C	.	.	ANN=C|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|14/14|c.1550C>G|p.Pro517Arg|1695/2146|1550/1590|517/529||,C|synonymous_variant|LOW|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|4/4|c.576C>G|p.Ser192Ser|576/751|576/591|192/196||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>G|||||2198|,C|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>C|||||4787|,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>G|||||1247|,C|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>G|||||1247|WARNING_TRANSCRIPT_INCOMPLETE
22	38482355	.	C	G	.	.	ANN=G|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1361G>C|p.Arg454Pro|1506/2146|1361/1590|454/529||,G|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.434G>C|p.Arg145Pro|434/751|434/591|145/196||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>C|||||3206|,G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>G|||||3779|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>C|||||2255|,G|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>C|||||2255|WARNING_TRANSCRIPT_INCOMPLETE
22	38482409	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1307G>A|p.Arg436Gln|1452/2146|1307/1590|436/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.380G>A|p.Arg127Gln|380/751|380/591|127/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||3260|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||3725|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||2309|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||2309|WARNING_TRANSCRIPT_INCOMPLETE
22	38482449	.	G	T	.	.	ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|12/14|c.1267C>A|p.Pro423Thr|1412/2146|1267/1590|423/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|3/4|c.340C>A|p.Pro114Thr|340/751|340/591|114/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>A|||||3300|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>T|||||3685|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>A|||||2349|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>A|||||2349|WARNING_TRANSCRIPT_INCOMPLETE
22	38483171	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1219C>T|p.Pro407Ser|1364/2146|1219/1590|407/529||,A|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.292C>T|p.Pro98Ser|292/751|292/591|98/196||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>T|||||4022|,A|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>A|||||2963|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>T|||||3071|,A|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>T|||||3071|WARNING_TRANSCRIPT_INCOMPLETE
22	38483215	.	G	T	.	.	ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1175C>A|p.Pro392His|1320/2146|1175/1590|392/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.248C>A|p.Pro83His|248/751|248/591|83/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110C>A|||||4066|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1G>T|||||2919|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1C>A|||||3115|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435C>A|||||3115|WARNING_TRANSCRIPT_INCOMPLETE
22	38483222	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|11/14|c.1168G>A|p.Val390Met|1313/2146|1168/1590|390/529||,T|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding|2/4|c.241G>A|p.Val81Met|241/751|241/591|81/196||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000320521|protein_coding||c.-110G>A|||||4073|,T|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1C>T|||||2912|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000469516|processed_transcript||n.-1G>A|||||3122|,T|upstream_gene_variant|MODIFIER|SLC16A8|ENSG00000100156|transcript|ENST00000427592|protein_coding||c.-435G>A|||||3122|WARNING_TRANSCRIPT_INCOMPLETE
22	38485540	.	A	G	.	.	ANN=G|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|8/14|c.754T>C|p.Cys252Arg|899/2146|754/1590|252/529||,G|upstream_gene_variant|MODIFIER|CTA-228A9.3|ENSG00000272720|transcript|ENST00000609162|lincRNA||n.-1A>G|||||594|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000428572|protein_coding||c.-1T>C|||||595|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.*804T>C|||||4381|
22	38493078	.	G	C	.	.	ANN=C|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding|7/14|c.573C>G|p.His191Gln|718/2146|573/1590|191/529||,C|missense_variant|MODERATE|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding|7/8|c.573C>G|p.His191Gln|717/804|573/660|191/219||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|7/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|1/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|2/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|4/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|3/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|8/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|6/14|c.573C>G||||||,C|sequence_feature|LOW|BAIAP2L2|ENSG00000128298|domain:IMD|ENST00000381669|protein_coding|5/14|c.573C>G||||||
22	38508172	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|17/17|c.2417C>G|p.Pro806Arg|2601/3271|2417/2421|806/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|16/16|c.2255C>G|p.Pro752Arg|2391/3060|2255/2259|752/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|16/16|c.2255C>G|p.Pro752Arg|2346/3011|2255/2259|752/752||,C|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146C>G|||||1495|,C|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145C>G|||||1496|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron||n.*859C>G|||||1373|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505C>G|||||3391|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682C>G|||||3929|,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron|2/2|n.493C>G||||||
22	38509647	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|15/17|c.2049G>C|p.Lys683Asn|2233/3271|2049/2421|683/806||,G|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|14/16|c.1887G>C|p.Lys629Asn|2023/3060|1887/2259|629/752||,G|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|14/16|c.1887G>C|p.Lys629Asn|1978/3011|1887/2259|629/752||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|14/17|c.2049G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000332509|protein_coding|15/17|c.2049G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|13/16|c.1887G>C||||||,G|sequence_feature|LOW|PLA2G6|ENSG00000184381|region_of_interest:Calmodulin-binding|ENST00000402064|protein_coding|14/16|c.1887G>C||||||,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000381669|protein_coding||c.-146G>C|||||2970|,G|upstream_gene_variant|MODIFIER|BAIAP2L2|ENSG00000128298|transcript|ENST00000332536|protein_coding||c.-145G>C|||||2971|,G|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000463287|retained_intron||n.-1G>C|||||785|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.*505G>C|||||1916|,G|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.*682G>C|||||2454|,G|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|4/4|n.757G>C||||||
22	38516893	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|12/17|c.1615G>A|p.Gly539Ser|1799/3271|1615/2421|539/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|11/16|c.1453G>A|p.Gly485Ser|1589/3060|1453/2259|485/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|11/16|c.1453G>A|p.Gly485Ser|1544/3011|1453/2259|485/752||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|11/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|13/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|14/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000332509|protein_coding|12/17|c.1615G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|10/16|c.1453G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|12/16|c.1453G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|13/16|c.1453G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|domain:Patatin|ENST00000402064|protein_coding|11/16|c.1453G>A||||||,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*220G>A|||||4785|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.*601G>A|||||2318|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000496409|retained_intron|1/4|n.155G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|3/6|n.259G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|9/10|n.*220G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|4/4|n.626G>A||||||
22	38522424	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|10/17|c.1381C>T|p.Arg461Trp|1565/3271|1381/2421|461/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|9/16|c.1219C>T|p.Arg407Trp|1355/3060|1219/2259|407/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|9/16|c.1219C>T|p.Arg407Trp|1310/3011|1219/2259|407/752||,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.*374C>T|||||579|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.*323C>T|||||1744|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||1926|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||3101|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||3124|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay|1/6|n.25C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|6/10|n.614C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron|1/4|n.339C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript|2/3|n.500C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|5/5|n.523C>T||||||
22	38524338	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|9/17|c.1286C>T|p.Ala429Val|1470/3271|1286/2421|429/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|3/4|c.254C>T|p.Ala85Val|256/781|254/372|85/123||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2C>T|||||1889|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1C>T|||||1576|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1C>T|||||1103|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.*688C>T|||||12|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.*473C>T|||||1187|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.*591C>T|||||1210|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/15|c.1186+1123C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/15|c.1186+1123C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-1804C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|4/10|n.467C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron|2/2|n.153C>T||||||
22	38525561	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|5/5|c.461C>T|p.Thr154Met|463/499|461/471|154/156||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|8/17|c.1086C>T|p.Asn362Asn|1270/3271|1086/2421|362/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|8/16|c.1086C>T|p.Asn362Asn|1222/3060|1086/2259|362/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|8/16|c.1086C>T|p.Asn362Asn|1177/3011|1086/2259|362/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding|2/4|c.54C>T|p.Asn18Asn|56/781|54/372|18/123||WARNING_TRANSCRIPT_NO_START_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|5/6|c.498C>T|p.Asn166Asn|500/688|498/686|166/227||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|5/5|c.576C>T|p.Asn192Asn|578/591|576/589|192/195||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000332509|protein_coding|8/17|c.1086C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000332509|protein_coding|7/17|c.1086C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000402064|protein_coding|8/16|c.1086C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_7|ENST00000402064|protein_coding|7/16|c.1086C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000454670|nonsense_mediated_decay||n.-2C>T|||||3112|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000491986|retained_intron||n.-1C>T|||||2799|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000490473|processed_transcript||n.-1C>T|||||2326|,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1C>T|||||48|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-3027C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|3/10|n.267C>T||||||
22	38528888	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|7/17|c.1027G>A|p.Ala343Thr|1211/3271|1027/2421|343/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|7/16|c.1027G>A|p.Ala343Thr|1163/3060|1027/2259|343/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|7/16|c.1027G>A|p.Ala343Thr|1118/3011|1027/2259|343/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|4/6|c.439G>A|p.Ala147Thr|441/688|439/686|147/227||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|3/5|c.280G>A|p.Ala94Thr|282/499|280/471|94/156||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|4/5|c.517G>A|p.Ala173Thr|519/591|517/589|173/195||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000332509|protein_coding|7/17|c.1027G>A||||||,T|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000402064|protein_coding|7/16|c.1027G>A||||||,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3G>A|||||4|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1G>A|||||3375|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675G>A|||||2107|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-6354G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|2/10|n.208G>A||||||
22	38528913	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|7/17|c.1002A>G|p.Ile334Met|1186/3271|1002/2421|334/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|7/16|c.1002A>G|p.Ile334Met|1138/3060|1002/2259|334/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|7/16|c.1002A>G|p.Ile334Met|1093/3011|1002/2259|334/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|4/6|c.414A>G|p.Ile138Met|416/688|414/686|138/227||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|3/5|c.255A>G|p.Ile85Met|257/499|255/471|85/156||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|4/5|c.492A>G|p.Ile164Met|494/591|492/589|164/195||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000332509|protein_coding|7/17|c.1002A>G||||||,C|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_6|ENST00000402064|protein_coding|7/16|c.1002A>G||||||,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3A>G|||||29|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000480154|retained_intron||n.-1A>G|||||3400|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.*675A>G|||||2082|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.413-6379A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|2/10|n.183A>G||||||
22	38531036	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|6/17|c.853C>T|p.Arg285Cys|1037/3271|853/2421|285/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|6/16|c.853C>T|p.Arg285Cys|989/3060|853/2259|285/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|6/16|c.853C>T|p.Arg285Cys|944/3011|853/2259|285/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|3/6|c.265C>T|p.Arg89Cys|267/688|265/686|89/227||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|2/5|c.106C>T|p.Arg36Cys|108/499|106/471|36/156||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|3/5|c.343C>T|p.Arg115Cys|345/591|343/589|115/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|3/3|c.319C>T|p.Arg107Cys|634/675|319/360|107/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452794|protein_coding||c.-3C>T|||||2152|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+5105C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay|1/10|n.34C>T||||||
22	38536013	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|5/17|c.773C>T|p.Ser258Leu|957/3271|773/2421|258/806||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|5/16|c.773C>T|p.Ser258Leu|909/3060|773/2259|258/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|5/16|c.773C>T|p.Ser258Leu|864/3011|773/2259|258/752||,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding|1/5|c.26C>T|p.Ser9Leu|28/499|26/471|9/156||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|2/5|c.263C>T|p.Ser88Leu|265/591|263/589|88/195||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|2/3|c.239C>T|p.Ser80Leu|554/675|239/360|80/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|6/17|c.773C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000332509|protein_coding|5/17|c.773C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|6/16|c.773C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_4|ENST00000402064|protein_coding|5/16|c.773C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000448094|nonsense_mediated_decay||n.-2C>T|||||4943|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding||c.*656C>T|||||59|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.*571C>T|||||128|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding||c.*548C>T|||||129|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||3223|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||3231|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|4/4|n.412+128C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/5|c.209+3099C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	38539157	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|2/6|c.164C>T|p.Pro55Leu|166/688|164/686|55/227||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|4/17|c.564C>T|p.Thr188Thr|748/3271|564/2421|188/806||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|4/16|c.564C>T|p.Thr188Thr|700/3060|564/2259|188/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|4/16|c.564C>T|p.Thr188Thr|655/3011|564/2259|188/752||,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding|1/5|c.63C>T|p.Thr21Thr|65/591|63/589|21/195||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding|1/3|c.30C>T|p.Thr10Thr|345/675|30/360|10/119||WARNING_TRANSCRIPT_NO_STOP_CODON,A|synonymous_variant|LOW|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|3/4|c.348C>T|p.Thr116Thr|506/656|348/498|116/165||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000332509|protein_coding|4/17|c.564C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000332509|protein_coding|5/17|c.564C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000402064|protein_coding|4/16|c.564C>T||||||,A|sequence_feature|LOW|PLA2G6|ENSG00000184381|repeat:ANK_2|ENST00000402064|protein_coding|5/16|c.564C>T||||||,A|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427453|protein_coding||c.-3C>T|||||3117|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript||n.*534C>T|||||79|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.*524C>T|||||87|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding||c.*366C>T|||||2343|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510C>T|||||2442|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413C>T|||||2456|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364C>T|||||2474|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>T|||||4218|,A|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>T|||||4229|,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+2413C>T||||||,A|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/3|c.425+2288C>T||||||,A|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|3/4|n.490C>T||||||
22	38541463	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/17|c.407A>G|p.His136Arg|591/3271|407/2421|136/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/16|c.407A>G|p.His136Arg|543/3060|407/2259|136/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/16|c.407A>G|p.His136Arg|498/3011|407/2259|136/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding|1/6|c.7A>G|p.Ile3Val|9/688|7/686|3/227||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/4|c.407A>G|p.His136Arg|499/552|407/456|136/151||,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3A>G|||||2242|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316A>G|||||1962|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding||c.*366A>G|||||37|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510A>G|||||136|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413A>G|||||150|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364A>G|||||168|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539A>G|||||1912|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471A>G|||||1923|,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+107A>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2168A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/4|n.333A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/3|n.456A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/4|n.371A>G||||||
22	38541545	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/17|c.325C>G|p.His109Asp|509/3271|325/2421|109/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/16|c.325C>G|p.His109Asp|461/3060|325/2259|109/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/16|c.325C>G|p.His109Asp|416/3011|325/2259|109/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/4|c.325C>G|p.His109Asp|417/552|325/456|109/151||,C|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|4/4|c.*156C>G|||||2995|,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.-3C>G|||||74|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3C>G|||||2324|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316C>G|||||2044|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding||c.*510C>G|||||54|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413C>G|||||68|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364C>G|||||86|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>G|||||1830|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>G|||||1841|,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/4|n.376+25C>G||||||,C|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2250C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/4|n.251C>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/3|n.374C>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/4|n.289C>G||||||
22	38541604	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|3/17|c.266C>A|p.Ser89Tyr|450/3271|266/2421|89/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|3/16|c.266C>A|p.Ser89Tyr|402/3060|266/2259|89/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|3/16|c.266C>A|p.Ser89Tyr|357/3011|266/2259|89/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|3/4|c.266C>A|p.Ser89Tyr|358/552|266/456|89/151||,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|4/4|c.*97C>A|||||2936|,T|3_prime_UTR_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|4/4|c.*97C>A|||||2936|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000427114|protein_coding||c.-3C>A|||||133|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452542|protein_coding||c.-3C>A|||||2383|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000498338|protein_coding||c.-316C>A|||||2103|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding||c.*413C>A|||||9|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding||c.*364C>A|||||27|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript||n.*539C>A|||||1771|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript||n.*471C>A|||||1782|,T|intron_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/3|c.210-2309C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|3/5|n.342C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript|2/4|n.192C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000445591|processed_transcript|2/3|n.315C>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript|2/4|n.230C>A||||||
22	38565247	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.187A>G|p.Arg63Gly|371/3271|187/2421|63/806||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.187A>G|p.Arg63Gly|323/3060|187/2259|63/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.187A>G|p.Arg63Gly|278/3011|187/2259|63/752||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.187A>G|p.Arg63Gly|345/656|187/498|63/165||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.187A>G|p.Arg63Gly|279/552|187/456|63/151||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.187A>G|p.Arg63Gly|253/567|187/300|63/99||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.187A>G|p.Arg63Gly|397/612|187/300|63/99||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.187A>G|p.Arg63Gly|300/501|187/300|63/99||,C|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.187A>G|p.Arg63Gly|312/364|187/239|63/78||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1A>G|||||1163|,C|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1A>G|||||1150|,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595A>G|||||35|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.263A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.278A>G||||||,C|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.352A>G||||||
22	38565262	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.172G>A|p.Val58Ile|356/3271|172/2421|58/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.172G>A|p.Val58Ile|308/3060|172/2259|58/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.172G>A|p.Val58Ile|263/3011|172/2259|58/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.172G>A|p.Val58Ile|330/656|172/498|58/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.172G>A|p.Val58Ile|264/552|172/456|58/151||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.172G>A|p.Val58Ile|238/567|172/300|58/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.172G>A|p.Val58Ile|382/612|172/300|58/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.172G>A|p.Val58Ile|285/501|172/300|58/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.172G>A|p.Val58Ile|297/364|172/239|58/78||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1G>A|||||1178|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1G>A|||||1165|,T|downstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding||c.*595G>A|||||20|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.248G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.263G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.337G>A||||||
22	38565343	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000332509|protein_coding|2/17|c.91G>A|p.Asp31Asn|275/3271|91/2421|31/806||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000335539|protein_coding|2/16|c.91G>A|p.Asp31Asn|227/3060|91/2259|31/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000402064|protein_coding|2/16|c.91G>A|p.Asp31Asn|182/3011|91/2259|31/752||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000430886|protein_coding|2/4|c.91G>A|p.Asp31Asn|249/656|91/498|31/165||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000436218|protein_coding|2/4|c.91G>A|p.Asp31Asn|183/552|91/456|31/151||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000447598|protein_coding|2/4|c.91G>A|p.Asp31Asn|157/567|91/300|31/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000435484|protein_coding|2/4|c.91G>A|p.Asp31Asn|301/612|91/300|31/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000417303|protein_coding|2/4|c.91G>A|p.Asp31Asn|204/501|91/300|31/99||,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000455341|protein_coding|2/3|c.91G>A|p.Asp31Asn|216/364|91/239|31/78||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PLA2G6|ENSG00000184381|transcript|ENST00000594306|protein_coding|2/2|c.91G>A|p.Asp31Asn|534/595|91/152|31/49||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000479641|processed_transcript||n.-1G>A|||||1259|,T|upstream_gene_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000452972|processed_transcript||n.-1G>A|||||1246|,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000471636|retained_intron|2/5|n.167G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000420435|processed_transcript|2/4|n.182G>A||||||,T|non_coding_exon_variant|MODIFIER|PLA2G6|ENSG00000184381|transcript|ENST00000426674|processed_transcript|2/3|n.256G>A||||||
22	38609876	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000338483|protein_coding|2/3|c.16C>G|p.Leu6Val|378/2490|16/495|6/164||,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000538320|protein_coding|2/3|c.16C>G|p.Leu6Val|354/2458|16/495|6/164||,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000417948|protein_coding|2/3|c.16C>G|p.Leu6Val|336/697|16/377|6/124||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000426621|protein_coding|2/3|c.16C>G|p.Leu6Val|112/2216|16/495|6/164||,G|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000407965|protein_coding|2/3|c.16C>G|p.Leu6Val|219/2325|16/495|6/164||,G|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538999|protein_coding|1/1|c.-51-551C>G||||||,G|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000441709|protein_coding|1/1|c.-51-551C>G||||||WARNING_TRANSCRIPT_INCOMPLETE
22	38609892	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000338483|protein_coding|2/3|c.32T>C|p.Leu11Pro|394/2490|32/495|11/164||,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000538320|protein_coding|2/3|c.32T>C|p.Leu11Pro|370/2458|32/495|11/164||,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000417948|protein_coding|2/3|c.32T>C|p.Leu11Pro|352/697|32/377|11/124||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000426621|protein_coding|2/3|c.32T>C|p.Leu11Pro|128/2216|32/495|11/164||,C|missense_variant|MODERATE|MAFF|ENSG00000185022|transcript|ENST00000407965|protein_coding|2/3|c.32T>C|p.Leu11Pro|235/2325|32/495|11/164||,C|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000538999|protein_coding|1/1|c.-51-535T>C||||||,C|intron_variant|MODIFIER|MAFF|ENSG00000185022|transcript|ENST00000441709|protein_coding|1/1|c.-51-535T>C||||||WARNING_TRANSCRIPT_INCOMPLETE
22	38617522	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.1178G>A|p.Arg393His|1402/3593|1178/1224|393/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.1178G>A|p.Arg393His|1387/3611|1178/1224|393/407||,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1060G>A|||||25343|,T|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1G>A|||||402|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430G>A|||||4005|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566G>A|||||4865|,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1060G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.523G>A||||||
22	38617570	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|9/9|c.1130G>A|p.Arg377His|1354/3593|1130/1224|377/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|9/9|c.1130G>A|p.Arg377His|1339/3611|1130/1224|377/407||,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1012G>A|||||25295|,T|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1G>A|||||450|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430G>A|||||3957|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566G>A|||||4817|,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|10/10|n.*1012G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript|2/2|n.475G>A||||||
22	38620930	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|8/9|c.844C>T|p.Arg282Cys|1068/3593|844/1224|282/407||,A|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|8/9|c.844C>T|p.Arg282Cys|1053/3611|844/1224|282/407||,A|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*726C>T|||||21935|,A|upstream_gene_variant|MODIFIER|AL021977.1|ENSG00000256873|transcript|ENST00000541788|pseudogene||n.-1C>T|||||3810|,A|upstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000504337|processed_transcript||n.-1C>T|||||1991|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000464059|processed_transcript||n.*430C>T|||||597|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000488844|retained_intron||n.*566C>T|||||1457|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000474416|retained_intron||n.*561C>T|||||1676|,A|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding||c.*570C>T|||||1856|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|9/10|n.*726C>T||||||
22	38641959	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361684|protein_coding|3/9|c.340G>A|p.Val114Ile|564/3593|340/1224|114/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000361906|protein_coding|3/9|c.340G>A|p.Val114Ile|549/3611|340/1224|114/407||,T|missense_variant|MODERATE|TMEM184B|ENSG00000198792|transcript|ENST00000403210|protein_coding|2/5|c.142G>A|p.Val48Ile|293/570|142/419|48/138||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/10|n.*222G>A|||||906|,T|3_prime_UTR_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|4/4|n.*201G>A|||||906|,T|downstream_gene_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000466117|retained_intron||n.*542G>A|||||763|,T|intron_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000457534|nonsense_mediated_decay|2/3|n.192+1817G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000436674|nonsense_mediated_decay|4/10|n.*222G>A||||||,T|non_coding_exon_variant|MODIFIER|TMEM184B|ENSG00000198792|transcript|ENST00000411679|nonsense_mediated_decay|4/4|n.*201G>A||||||
22	38689321	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|10/11|c.1223G>A|p.Ser408Asn|1334/2642|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|10/11|c.1223G>A|p.Ser408Asn|1484/2791|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|14/15|c.1223G>A|p.Ser408Asn|1689/2321|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding|3/4|c.329G>A|p.Ser110Asn|331/1005|329/357|110/118||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding|4/5|c.404G>A|p.Ser135Asn|405/763|404/432|135/143||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|10/10|c.1223G>A|p.Ser408Asn|1515/1580|1223/1251|408/416||,T|3_prime_UTR_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*404G>A|||||5475|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.*539G>A|||||588|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding||c.*1275G>A|||||2890|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding||c.*1228G>A|||||2891|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript||n.*381G>A|||||3311|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay||n.*275G>A|||||4287|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding||c.*812G>A|||||4714|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron|3/3|n.263G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|7/7|n.*404G>A||||||
22	38694909	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000359867|protein_coding|7/11|c.767G>A|p.Arg256His|878/2642|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000396832|protein_coding|7/11|c.767G>A|p.Arg256His|1028/2791|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000400206|protein_coding|11/15|c.767G>A|p.Arg256His|1233/2321|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000403904|protein_coding|7/10|c.767G>A|p.Arg256His|1059/1580|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000413574|protein_coding|7/8|c.767G>A|p.Arg256His|1031/1631|767/1011|256/336||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000405675|protein_coding|7/8|c.767G>A|p.Arg256His|1059/2127|767/936|256/311||,T|missense_variant|MODERATE|CSNK1E|ENSG00000213923|transcript|ENST00000451964|protein_coding|4/5|c.578G>A|p.Arg193His|580/873|578/810|193/269||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|4/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|3/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|6/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|7/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|2/10|c.767G>A||||||,T|sequence_feature|LOW|CSNK1E|ENSG00000213923|domain:Protein_kinase|ENST00000403904|protein_coding|5/10|c.767G>A||||||,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000366216|protein_coding||c.-3G>A|||||4376|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431632|protein_coding||c.-2G>A|||||52|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000495232|retained_intron||n.-1G>A|||||4444|,T|upstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000494610|retained_intron||n.-1G>A|||||4369|,T|downstream_gene_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000430335|protein_coding||c.*996G>A|||||1052|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000431611|nonsense_mediated_decay|3/7|n.241G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000498529|processed_transcript|2/3|n.202G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000442216|nonsense_mediated_decay|2/4|n.160G>A||||||,T|non_coding_exon_variant|MODIFIER|CSNK1E|ENSG00000213923|transcript|ENST00000467976|retained_intron|4/4|n.561G>A||||||
22	38822894	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1244G>A|p.Arg415Gln|1503/2065|1244/1338|415/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1244G>A||||||,T|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-188C>T||||||
22	38822957	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.1181C>T|p.Ala394Val|1440/2065|1181/1338|394/445||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Cytoplasmic|ENST00000303592|protein_coding|2/2|c.1181C>T||||||,A|sequence_feature|LOW|KCNJ4|ENSG00000168135|compositionally_biased_region:Poly-Ala|ENST00000303592|protein_coding|2/2|c.1181C>T||||||,A|intron_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense|2/2|n.297-125G>A||||||
22	38823828	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.310G>A|p.Gly104Ser|569/2065|310/1338|104/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|topological_domain:Extracellular|ENST00000303592|protein_coding|2/2|c.310G>A||||||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|region_of_interest:Val/Gly/Ala/Pro_stretch|ENST00000303592|protein_coding|2/2|c.310G>A||||||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|compositionally_biased_region:Poly-Gly|ENST00000303592|protein_coding|2/2|c.310G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>T|||||487|
22	38823948	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KCNJ4|ENSG00000168135|transcript|ENST00000303592|protein_coding|2/2|c.190G>A|p.Ala64Thr|449/2065|190/1338|64/445||,T|sequence_feature|LOW|KCNJ4|ENSG00000168135|transmembrane_region:Transmembrane_region|ENST00000303592|protein_coding|2/2|c.190G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-434P1.6|ENSG00000228620|transcript|ENST00000433230|antisense||n.*556C>T|||||607|
22	38864300	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|1/4|c.62G>A|p.Gly21Glu|218/931|62/663|21/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|1/5|c.62G>A|p.Gly21Glu|234/1728|62/645|21/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|1/4|c.62G>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|1/5|c.62G>A||||||
22	38875632	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.227A>G|p.Tyr76Cys|383/931|227/663|76/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.227A>G|p.Tyr76Cys|399/1728|227/645|76/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|2/4|c.227A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|3/4|c.227A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|2/5|c.227A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|3/5|c.227A>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296T>C|||||3813|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158T>C|||||3837|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299T>C|||||3837|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.166A>G||||||
22	38875653	.	G	T	.	.	ANN=T|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.248G>T|p.Arg83Leu|404/931|248/663|83/220||,T|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.248G>T|p.Arg83Leu|420/1728|248/645|83/214||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000409006|protein_coding|3/4|c.248G>T||||||,T|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000216014|protein_coding|3/5|c.248G>T||||||,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296C>A|||||3792|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158C>A|||||3816|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299C>A|||||3816|,T|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.187G>T||||||
22	38875664	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.259G>A|p.Asp87Asn|415/931|259/663|87/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.259G>A|p.Asp87Asn|431/1728|259/645|87/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000409006|protein_coding|3/4|c.259G>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000216014|protein_coding|3/5|c.259G>A||||||,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296C>T|||||3781|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158C>T|||||3805|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299C>T|||||3805|,A|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.198G>A||||||
22	38875735	.	C	A	.	.	ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|3/4|c.330C>A|p.Asn110Lys|486/931|330/663|110/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|3/5|c.330C>A|p.Asn110Lys|502/1728|330/645|110/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|3/4|c.330C>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|3/5|c.330C>A||||||,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296G>T|||||3710|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158G>T|||||3734|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299G>T|||||3734|,A|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|3/5|n.269C>A||||||
22	38877231	.	C	A	.	.	ANN=A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.366C>A|p.Phe122Leu|522/931|366/663|122/220||,A|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.366C>A|p.Phe122Leu|538/1728|366/645|122/214||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|4/4|c.366C>A||||||,A|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|4/5|c.366C>A||||||,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296G>T|||||2214|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158G>T|||||2238|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299G>T|||||2238|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853G>T|||||4451|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441G>T|||||4455|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265G>T|||||4652|,A|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.305C>A||||||
22	38877251	.	T	G	.	.	ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.386T>G|p.Val129Gly|542/931|386/663|129/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.386T>G|p.Val129Gly|558/1728|386/645|129/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|4/4|c.386T>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|4/5|c.386T>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296A>C|||||2194|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158A>C|||||2218|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299A>C|||||2218|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853A>C|||||4431|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441A>C|||||4435|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265A>C|||||4632|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.325T>G||||||
22	38877304	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.439A>G|p.Ile147Val|595/931|439/663|147/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.439A>G|p.Ile147Val|611/1728|439/645|147/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000409006|protein_coding|4/4|c.439A>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|topological_domain:Cytoplasmic|ENST00000216014|protein_coding|4/5|c.439A>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296T>C|||||2141|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158T>C|||||2165|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299T>C|||||2165|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853T>C|||||4378|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441T>C|||||4382|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265T>C|||||4579|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.378A>G||||||
22	38877461	.	T	G	.	.	ANN=G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding|4/4|c.596T>G|p.Val199Gly|752/931|596/663|199/220||,G|missense_variant|MODERATE|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding|4/5|c.596T>G|p.Val199Gly|768/1728|596/645|199/214||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000409006|protein_coding|4/4|c.596T>G||||||,G|sequence_feature|LOW|KDELR3|ENSG00000100196|transmembrane_region:Transmembrane_region|ENST00000216014|protein_coding|4/5|c.596T>G||||||,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding||c.*2296A>C|||||1984|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding||c.*1158A>C|||||2008|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding||c.*2299A>C|||||2008|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron||n.*1853A>C|||||4221|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron||n.*6441A>C|||||4225|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding||c.*2265A>C|||||4422|,G|non_coding_exon_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript|4/5|n.535T>G||||||
22	38881951	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.2185T>C|p.Ser729Pro|2285/4791|2185/2196|729/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.535T>C|p.Ser179Pro|1147/3629|535/546|179/181||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1948T>C|p.Ser650Pro|2288/4770|1948/1959|650/652||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.2179T>C|p.Ser727Pro|2254/2322|2179/2190|727/729||,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819A>G|||||4311|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817A>G|||||2499|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970A>G|||||3024|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404T>C|||||3231|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354T>C|||||4367|,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1584T>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.6176T>C||||||
22	38882187	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.1949G>C|p.Ser650Thr|2049/4791|1949/2196|650/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.299G>C|p.Ser100Thr|911/3629|299/546|100/181||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1712G>C|p.Ser571Thr|2052/4770|1712/1959|571/652||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.1943G>C|p.Ser648Thr|2018/2322|1943/2190|648/729||,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819C>G|||||4547|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817C>G|||||2735|,G|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970C>G|||||3260|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404G>C|||||2995|,G|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354G>C|||||4131|,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1348G>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.5940G>C||||||
22	38882277	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|13/13|c.1859G>A|p.Gly620Asp|1959/4791|1859/2196|620/731||,T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000444597|protein_coding|2/2|c.209G>A|p.Gly70Asp|821/3629|209/546|70/181||,T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|14/14|c.1622G>A|p.Gly541Asp|1962/4770|1622/1959|541/652||,T|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|13/13|c.1853G>A|p.Gly618Asp|1928/2322|1853/2190|618/729||,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000409006|protein_coding||c.*819C>T|||||4637|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000216014|protein_coding||c.*817C>T|||||2825|,T|downstream_gene_variant|MODIFIER|KDELR3|ENSG00000100196|transcript|ENST00000471268|processed_transcript||n.*970C>T|||||3350|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.*404G>A|||||2905|,T|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript||n.*1354G>A|||||4041|,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000431312|retained_intron|2/2|n.1258G>A||||||,T|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|12/12|n.5850G>A||||||
22	38891022	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|7/13|c.910C>T|p.Arg304Cys|1010/4791|910/2196|304/731||,A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|7/14|c.673C>T|p.Arg225Cys|1013/4770|673/1959|225/652||,A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|7/13|c.910C>T|p.Arg304Cys|985/2322|910/2190|304/729||,A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000475004|processed_transcript||n.-1C>T|||||1246|,A|downstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.*712C>T|||||3536|,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|7/12|n.967C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|7/12|n.693C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000497196|retained_intron|1/4|n.30C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000477112|retained_intron|1/2|n.30C>T||||||
22	38902052	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/13|c.191G>C|p.Ser64Thr|291/4791|191/2196|64/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/13|c.191G>C|p.Ser64Thr|266/2322|191/2190|64/729||,G|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-47G>C|||||47|,G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.-1G>C|||||146|,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.70+1544G>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/12|n.248G>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript|1/2|n.260G>C||||||
22	38902067	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/13|c.176C>T|p.Pro59Leu|276/4791|176/2196|59/731||,A|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/13|c.176C>T|p.Pro59Leu|251/2322|176/2190|59/729||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-62C>T||||||,A|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-62C>T|||||62|,A|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.-1C>T|||||161|,A|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.70+1529C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/12|n.233C>T||||||,A|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript|1/2|n.245C>T||||||
22	38902217	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000396821|protein_coding|1/13|c.26T>C|p.Ile9Thr|126/4791|26/2196|9/731||,G|missense_variant|MODERATE|DDX17|ENSG00000100201|transcript|ENST00000403230|protein_coding|1/13|c.26T>C|p.Ile9Thr|101/2322|26/2190|9/729||,G|5_prime_UTR_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000381633|protein_coding|1/14|c.-212T>C|||||212|,G|upstream_gene_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000467279|processed_transcript||n.-1T>C|||||311|,G|intron_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000432525|processed_transcript|1/11|n.70+1379T>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000216019|retained_intron|1/12|n.83T>C||||||,G|non_coding_exon_variant|MODIFIER|DDX17|ENSG00000100201|transcript|ENST00000479734|processed_transcript|1/2|n.95T>C||||||
22	38917703	.	A	G	.	.	ANN=G|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|13/14|c.863T>C|p.Ile288Thr|1140/2371|863/1023|288/340||,G|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|10/11|c.698T>C|p.Ile233Thr|851/1056|698/858|233/285||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000216024|protein_coding|13/14|c.863T>C||||||,G|sequence_feature|LOW|DMC1|ENSG00000100206|beta_strand|ENST00000428462|protein_coding|10/11|c.698T>C||||||
22	38934606	.	T	C	.	.	ANN=C|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|10/14|c.598A>G|p.Met200Val|875/2371|598/1023|200/340||,C|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|7/11|c.433A>G|p.Met145Val|586/1056|433/858|145/285||,C|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|8/9|c.433A>G|p.Met145Val|544/721|433/610|145/202||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|10/14|c.598A>G||||||,C|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|9/14|c.598A>G||||||
22	38935406	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|9/14|c.506G>A|p.Arg169His|783/2371|506/1023|169/340||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|9/14|c.506G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.422-789G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.422-789G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	38945975	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DMC1|ENSG00000100206|transcript|ENST00000216024|protein_coding|8/14|c.449G>A|p.Gly150Asp|726/2371|449/1023|150/340||,T|sequence_feature|LOW|DMC1|ENSG00000100206|helix|ENST00000216024|protein_coding|8/14|c.449G>A||||||,T|downstream_gene_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000415483|protein_coding||c.*569G>A|||||2701|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000428462|protein_coding|6/10|c.421+2696G>A||||||,T|intron_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000439567|protein_coding|7/8|c.421+2696G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|DMC1|ENSG00000100206|transcript|ENST00000478820|retained_intron|8/8|n.624G>A||||||
22	39066934	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|3/5|c.124T>G|p.Ser42Ala|258/1133|124/381|42/126||,G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding|5/5|c.124T>G|p.Ser42Ala|555/615|124/184|42/60||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|4/6|c.124T>G|p.Ser42Ala|402/1269|124/381|42/126||,G|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|5/6|c.124T>G|p.Ser42Ala|565/744|124/303|42/100||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1A>C|||||2179|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1A>C|||||626|,G|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566T>G|||||2462|,G|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738A>C|||||4885|,G|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2604A>C||||||,G|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.864A>C||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.277T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|3/4|n.242T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.377T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|3/5|n.342T>G||||||,G|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron|2/2|n.400T>G||||||
22	39067083	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/5|c.193G>A|p.Val65Ile|327/1133|193/381|65/126||,A|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/6|c.193G>A|p.Val65Ile|471/1269|193/381|65/126||,A|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|6/6|c.193G>A|p.Val65Ile|634/744|193/303|65/100||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.193G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.193G>A||||||,A|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.193G>A||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1C>T|||||2328|,A|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1C>T|||||775|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566G>A|||||2611|,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615G>A|||||89|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416G>A|||||133|,A|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738C>T|||||4736|,A|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2753C>T||||||,A|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.715C>T||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.426G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.311G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.526G>A||||||,A|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/5|n.411G>A||||||
22	39067128	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000216029|protein_coding|4/5|c.238C>T|p.Arg80Trp|372/1133|238/381|80/126||,T|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000396811|protein_coding|5/6|c.238C>T|p.Arg80Trp|516/1269|238/381|80/126||,T|missense_variant|MODERATE|CBY1|ENSG00000100211|transcript|ENST00000416285|protein_coding|6/6|c.238C>T|p.Arg80Trp|679/744|238/303|80/100||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|3/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|5/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|region_of_interest:Minimal_region_for_the_interaction_with_PKD2|ENST00000216029|protein_coding|4/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|5/5|c.238C>T||||||,T|sequence_feature|LOW|CBY1|ENSG00000100211|coiled-coil_region|ENST00000216029|protein_coding|4/5|c.238C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.10|ENSG00000230912|transcript|ENST00000423346|antisense||n.-1G>A|||||2373|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000422408|antisense||n.-1G>A|||||820|,T|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000475924|retained_intron||n.*566C>T|||||2656|,T|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000411557|protein_coding||c.*615C>T|||||134|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000467118|retained_intron||n.*416C>T|||||178|,T|downstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.*738G>A|||||4691|,T|intron_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense|1/1|n.46-2798G>A||||||,T|non_coding_exon_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense|2/2|n.670G>A||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000485501|retained_intron|3/3|n.471C>T||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492537|retained_intron|4/4|n.356C>T||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000492576|retained_intron|4/4|n.571C>T||||||,T|non_coding_exon_variant|MODIFIER|CBY1|ENSG00000100211|transcript|ENST00000489847|retained_intron|4/5|n.456C>T||||||
22	39078421	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|2/4|c.211C>T|p.Leu71Phe|242/1432|211/429|71/142||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|1/4|c.211C>T||||||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|3/4|c.211C>T||||||,T|sequence_feature|LOW|TOMM22|ENSG00000100216|topological_domain:Cytoplasmic|ENST00000216034|protein_coding|2/4|c.211C>T||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1G>A|||||596|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1G>A|||||646|,T|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1G>A|||||629|,T|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289G>A|||||3127|,T|non_coding_exon_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron|1/3|n.245C>T||||||
22	39078948	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding|3/4|c.301T>G|p.Phe101Val|332/1432|301/429|101/142||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|region_of_interest:TMD|ENST00000216034|protein_coding|3/4|c.301T>G||||||,G|sequence_feature|LOW|TOMM22|ENSG00000100216|transmembrane_region:Transmembrane_region|ENST00000216034|protein_coding|3/4|c.301T>G||||||,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000444381|antisense||n.-1A>C|||||1123|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000431924|antisense||n.-1A>C|||||1173|,G|upstream_gene_variant|MODIFIER|RP3-508I15.9|ENSG00000228274|transcript|ENST00000412067|antisense||n.-1A>C|||||1156|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding||c.*1289A>C|||||2600|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding||c.*463A>C|||||4775|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron||n.*467A>C|||||4981|,G|non_coding_exon_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron|2/3|n.335T>G||||||
22	39084951	.	C	G	.	.	ANN=G|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|3/4|c.498G>C|p.Glu166Asp|1178/3648|498/609|166/202||,G|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|2/3|c.351G>C|p.Glu117Asp|352/647|351/462|117/153||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.498G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.498G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.498G>C||||||,G|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.498G>C||||||,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000216034|protein_coding||c.*460C>G|||||4133|,G|downstream_gene_variant|MODIFIER|TOMM22|ENSG00000100216|transcript|ENST00000492561|retained_intron||n.*782C>G|||||4786|,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding||c.*571G>C|||||128|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding||c.*529G>C|||||350|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000482442|retained_intron|1/2|n.378G>C||||||
22	39095849	.	G	C	.	.	ANN=C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000216039|protein_coding|1/4|c.144C>G|p.Ser48Arg|824/3648|144/609|48/202||,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000545590|protein_coding|1/3|c.126C>G|p.Ser42Arg|127/647|126/462|42/153||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000427389|protein_coding|2/4|c.144C>G|p.Ser48Arg|345/571|144/370|48/122||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000412832|protein_coding|2/3|c.144C>G|p.Ser48Arg|359/529|144/314|48/103||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000417712|protein_coding|2/2|c.144C>G|p.Ser48Arg|580/623|144/187|48/61||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|JOSD1|ENSG00000100221|transcript|ENST00000456626|protein_coding|2/2|c.144C>G|p.Ser48Arg|802/843|144/185|48/60||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|1/4|c.144C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|2/4|c.144C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|4/4|c.144C>G||||||,C|sequence_feature|LOW|JOSD1|ENSG00000100221|domain:Josephin|ENST00000216039|protein_coding|3/4|c.144C>G||||||,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000462610|processed_transcript||n.*525C>G|||||317|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000490169|processed_transcript||n.*505C>G|||||432|,C|downstream_gene_variant|MODIFIER|JOSD1|ENSG00000100221|transcript|ENST00000493939|processed_transcript||n.*480C>G|||||438|
22	39104896	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|2/12|c.239G>C|p.Arg80Pro|472/5126|239/2010|80/669||,C|5_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|2/4|c.-5G>C|||||5|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding|2/4|c.-5G>C|||||5|WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding|2/3|c.-5G>C|||||5|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|1/3|n.192+2744G>C||||||,C|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron|2/3|n.77G>C||||||
22	39112062	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|3/12|c.455G>A|p.Arg152Gln|688/5126|455/2010|152/669||,A|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|3/4|c.212G>A|p.Arg71Gln|339/585|212/458|71/151||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding|3/4|c.212G>A|p.Arg71Gln|534/582|212/260|71/85||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|2/4|n.*130G>A|||||130|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505G>A|||||95|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|2/4|n.*130G>A||||||,A|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron|3/3|n.293G>A||||||
22	39112834	.	A	T	.	.	ANN=T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|4/12|c.663A>T|p.Glu221Asp|896/5126|663/2010|221/669||,T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000484657|protein_coding|4/4|c.420A>T|p.Glu140Asp|547/585|420/458|140/151||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|3/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|4/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|6/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|5/12|c.663A>T||||||,T|sequence_feature|LOW|GTPBP1|ENSG00000100226|domain:tr-type_G|ENST00000216044|protein_coding|7/12|c.663A>T||||||,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*338A>T|||||902|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000461428|retained_intron||n.*476A>T|||||589|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000488787|protein_coding||c.*582A>T|||||160|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000470836|protein_coding||c.*505A>T|||||867|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000418601|nonsense_mediated_decay|3/4|n.*338A>T||||||
22	39125549	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/12|c.1799C>T|p.Thr600Met|2032/5126|1799/2010|600/669||,T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/8|c.533C>T|p.Thr178Met|533/1350|533/1050|178/349||,T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2229|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3365|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||1069|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4780|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4781|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||3116|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3156|,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1289C>T||||||
22	39125573	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding|11/12|c.1823C>T|p.Ser608Phe|2056/5126|1823/2010|608/669||,T|missense_variant|MODERATE|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|4/8|c.557C>T|p.Ser186Phe|557/1350|557/1050|186/349||,T|upstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.-1C>T|||||2205|,T|upstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.-1C>T|||||3341|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.-3C>T|||||1045|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.-1C>T|||||4756|,T|upstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.-3C>T|||||4757|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000460605|processed_transcript||n.*581C>T|||||3140|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000475959|retained_intron||n.*475C>T|||||3180|,T|non_coding_exon_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron|1/2|n.1313C>T||||||
22	39132280	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|18/18|c.2209G>A|p.Ala737Thr|2483/4022|2209/2217|737/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|19/19|c.2146G>A|p.Ala716Thr|2505/4055|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|18/18|c.2146G>A|p.Ala716Thr|2363/3908|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|19/19|c.2146G>A|p.Ala716Thr|2359/2725|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|18/18|c.2113G>A|p.Ala705Thr|2164/2486|2113/2121|705/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2209G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2146G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2146G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1C>T|||||2728|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243C>T|||||2688|,T|downstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.*746C>T|||||3749|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674C>T|||||2692|,T|downstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.*183G>A|||||335|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.*3035C>T|||||4036|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||91|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||100|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.*597G>A|||||1485|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571G>A|||||1963|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914G>A|||||2651|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351G>A|||||3066|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||4017|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.317+1234C>T||||||,T|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.85+1461C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|7/7|c.1001+19C>T||||||,T|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|1/1|c.72-1676C>T||||||WARNING_TRANSCRIPT_NO_START_CODON
22	39132369	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|18/18|c.2120C>T|p.Thr707Met|2394/4022|2120/2217|707/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|19/19|c.2057C>T|p.Thr686Met|2416/4055|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|18/18|c.2057C>T|p.Thr686Met|2274/3908|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|19/19|c.2057C>T|p.Thr686Met|2270/2725|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|18/18|c.2024C>T|p.Thr675Met|2075/2486|2024/2121|675/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2120C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2057C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2057C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>A|||||2639|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243G>A|||||2777|,A|downstream_gene_variant|MODIFIER|AL021707.2|ENSG00000257034|transcript|ENST00000544928|pseudogene||n.*746G>A|||||3838|,A|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674G>A|||||2781|,A|downstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.*183C>T|||||246|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000462332|retained_intron||n.*3035G>A|||||4125|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||180|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||189|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.*597C>T|||||1396|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571C>T|||||1874|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>T|||||2562|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>T|||||2977|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||3928|,A|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.317+1323G>A||||||,A|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.85+1550G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|7/7|c.1001+108G>A||||||,A|intron_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|1/1|c.72-1587G>A||||||WARNING_TRANSCRIPT_NO_START_CODON
22	39134207	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|17/18|c.2074G>A|p.Gly692Ser|2348/4022|2074/2217|692/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|18/19|c.2011G>A|p.Gly671Ser|2370/4055|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|17/18|c.2011G>A|p.Gly671Ser|2228/3908|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|18/19|c.2011G>A|p.Gly671Ser|2224/2725|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|17/18|c.1978G>A|p.Gly660Ser|2029/2486|1978/2121|660/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|4/4|c.430G>A|p.Gly144Ser|430/872|430/597|144/198||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|17/18|c.2074G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.2011G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|18/19|c.2011G>A||||||,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding|8/8|c.*203C>T|||||203|,T|3_prime_UTR_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding|2/2|c.*203C>T|||||203|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||1410|,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1C>T|||||801|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||4423|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000216044|protein_coding||c.*2243C>T|||||4615|,T|downstream_gene_variant|MODIFIER|AL021707.1|ENSG00000203583|transcript|ENST00000366392|pseudogene||n.*674C>T|||||4619|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||2018|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||2027|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.*571G>A|||||36|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914G>A|||||724|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351G>A|||||1139|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||2090|,T|intron_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|1/1|n.318-420C>T||||||,T|intron_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|1/2|n.86-225C>T||||||
22	39134699	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|16/18|c.1903C>A|p.Arg635Ser|2177/4022|1903/2217|635/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|17/19|c.1840C>A|p.Arg614Ser|2199/4055|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|16/18|c.1840C>A|p.Arg614Ser|2057/3908|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|17/19|c.1840C>A|p.Arg614Ser|2053/2725|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|16/18|c.1807C>A|p.Arg603Ser|1858/2486|1807/2121|603/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding|3/4|c.259C>A|p.Arg87Ser|259/872|259/597|87/198||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|16/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|17/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|18/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|15/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000405018|protein_coding|14/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000405018|protein_coding|16/18|c.1903C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|17/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|18/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|19/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|16/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|domain:SUN|ENST00000406622|protein_coding|15/19|c.1840C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|beta_strand|ENST00000406622|protein_coding|17/19|c.1840C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>A|||||1902|,T|upstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.-1G>T|||||309|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||3931|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||4801|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||395|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>T|||||2510|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>T|||||2519|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||399|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.*914C>A|||||232|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.*1351C>A|||||647|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>A|||||1598|,T|non_coding_exon_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense|2/2|n.390G>T||||||,T|non_coding_exon_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense|2/3|n.353G>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron|2/3|n.436C>A||||||
22	39135783	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/18|c.1585G>A|p.Ala529Thr|1859/4022|1585/2217|529/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/19|c.1522G>A|p.Ala508Thr|1881/4055|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/18|c.1522G>A|p.Ala508Thr|1739/3908|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/19|c.1522G>A|p.Ala508Thr|1735/2725|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/18|c.1489G>A|p.Ala497Thr|1540/2486|1489/2121|497/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1585G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1522G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1522G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||2986|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2847|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3717|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||355|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||531|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1013|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||788|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1479|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||3594|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||3603|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1483|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||514|,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+611C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/7|n.710G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/5|n.1209G>A||||||
22	39135888	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/18|c.1480G>A|p.Val494Met|1754/4022|1480/2217|494/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/19|c.1417G>A|p.Val473Met|1776/4055|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/18|c.1417G>A|p.Val473Met|1634/3908|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/19|c.1417G>A|p.Val473Met|1630/2725|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/18|c.1384G>A|p.Val462Met|1435/2486|1384/2121|462/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1480G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1417G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1417G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||3091|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2742|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3612|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||460|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||636|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1118|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||893|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1584|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||3699|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||3708|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1588|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||409|,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+716C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/7|n.605G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/5|n.1104G>A||||||
22	39135933	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|13/18|c.1435C>T|p.Pro479Ser|1709/4022|1435/2217|479/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|14/19|c.1372C>T|p.Pro458Ser|1731/4055|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|13/18|c.1372C>T|p.Pro458Ser|1589/3908|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|14/19|c.1372C>T|p.Pro458Ser|1585/2725|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|13/18|c.1339C>T|p.Pro447Ser|1390/2486|1339/2121|447/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1435C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1372C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1372C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||3136|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||2697|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||3567|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||505|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||681|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||1163|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||938|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||1629|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||3744|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||3753|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||1633|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541C>T|||||364|,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+761G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|5/7|n.560C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|4/5|n.1059C>T||||||
22	39136283	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|12/18|c.1408G>A|p.Val470Met|1682/4022|1408/2217|470/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|13/19|c.1345G>A|p.Val449Met|1704/4055|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|12/18|c.1345G>A|p.Val449Met|1562/3908|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|13/19|c.1345G>A|p.Val449Met|1558/2725|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|12/18|c.1312G>A|p.Val438Met|1363/2486|1312/2121|438/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1408G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1345G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1345G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||3486|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||2347|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||3217|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||855|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||1031|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||1513|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||1288|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||1979|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92C>T|||||4094|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273C>T|||||4103|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||1983|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.*541G>A|||||14|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||4797|WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1111C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|4/7|n.533G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.1032G>A||||||
22	39136423	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|12/18|c.1268C>T|p.Ser423Phe|1542/4022|1268/2217|423/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|13/19|c.1205C>T|p.Ser402Phe|1564/4055|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|12/18|c.1205C>T|p.Ser402Phe|1422/3908|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|13/19|c.1205C>T|p.Ser402Phe|1418/2725|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|12/18|c.1172C>T|p.Ser391Phe|1223/2486|1172/2121|391/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1268C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1205C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1205C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>T|||||3626|,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||2207|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||3077|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||995|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||1171|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||1653|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||1428|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||2119|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>A|||||4234|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>A|||||4243|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||2123|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||4657|WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1251G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|4/7|n.393C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.892C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|4/4|n.415C>T||||||
22	39137043	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|11/18|c.1222C>A|p.Arg408Ser|1496/4022|1222/2217|408/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|12/19|c.1159C>A|p.Arg387Ser|1518/4055|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|11/18|c.1159C>A|p.Arg387Ser|1376/3908|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|12/19|c.1159C>A|p.Arg387Ser|1372/2725|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|11/18|c.1126C>A|p.Arg376Ser|1177/2486|1126/2121|376/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1222C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1159C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1159C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1C>A|||||4246|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||1587|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||2457|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>A|||||1615|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>A|||||1791|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>T|||||2273|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>T|||||2048|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||2739|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000484971|nonsense_mediated_decay||n.*92G>T|||||4854|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000487538|nonsense_mediated_decay||n.*273G>T|||||4863|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||2743|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>A|||||4037|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>A|||||4649|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+1871G>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|3/7|n.229C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|3/5|n.272C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|3/4|n.369C>A||||||
22	39137513	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|10/18|c.1195G>A|p.Val399Ile|1469/4022|1195/2217|399/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|11/19|c.1132G>A|p.Val378Ile|1491/4055|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|10/18|c.1132G>A|p.Val378Ile|1349/3908|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|11/19|c.1132G>A|p.Val378Ile|1345/2725|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|10/18|c.1099G>A|p.Val367Ile|1150/2486|1099/2121|367/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1195G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1132G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1132G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.20|ENSG00000273096|transcript|ENST00000609428|sense_intronic||n.-1G>A|||||4716|,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||1117|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||1987|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||2085|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||2261|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||2743|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||2518|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||3209|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||3213|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||3567|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012G>A|||||4179|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+2341C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|2/7|n.202G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|2/5|n.245G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|2/4|n.342G>A||||||
22	39138331	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1106G>A|p.Arg369His|1380/4022|1106/2217|369/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.1043G>A|p.Arg348His|1402/4055|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.1043G>A|p.Arg348His|1260/3908|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.1043G>A|p.Arg348His|1256/2725|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.1010G>A|p.Arg337His|1061/2486|1010/2121|337/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1106G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1043G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1043G>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1C>T|||||299|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1C>T|||||1169|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1G>A|||||2903|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1G>A|||||3079|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461C>T|||||3561|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527C>T|||||3336|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050C>T|||||4027|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122C>T|||||4031|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431G>A|||||2749|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012G>A|||||3361|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3159C>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.113G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.156G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.253G>A||||||
22	39138332	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1105C>T|p.Arg369Cys|1379/4022|1105/2217|369/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.1042C>T|p.Arg348Cys|1401/4055|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.1042C>T|p.Arg348Cys|1259/3908|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.1042C>T|p.Arg348Cys|1255/2725|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.1009C>T|p.Arg337Cys|1060/2486|1009/2121|337/706||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|9/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|11/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|10/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000405018|protein_coding|12/18|c.1105C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|10/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|12/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|11/19|c.1042C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|coiled-coil_region|ENST00000406622|protein_coding|13/19|c.1042C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>A|||||298|,A|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>A|||||1168|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>T|||||2904|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>T|||||3080|,A|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>A|||||3562|,A|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>A|||||3337|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>A|||||4028|,A|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>A|||||4032|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>T|||||2748|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>T|||||3360|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3160G>A||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.112C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.155C>T||||||,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.252C>T||||||
22	39138376	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1061A>G|p.Glu354Gly|1335/4022|1061/2217|354/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.998A>G|p.Glu333Gly|1357/4055|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.998A>G|p.Glu333Gly|1215/3908|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.998A>G|p.Glu333Gly|1211/2725|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.965A>G|p.Glu322Gly|1016/2486|965/2121|322/706||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1061A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.998A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.998A>G||||||,C|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1T>C|||||254|,C|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1T>C|||||1124|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1A>G|||||2948|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1A>G|||||3124|,C|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461T>C|||||3606|,C|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527T>C|||||3381|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050T>C|||||4072|,C|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122T>C|||||4076|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431A>G|||||2704|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012A>G|||||3316|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3204T>C||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.68A>G||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.111A>G||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.208A>G||||||
22	39138389	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|9/18|c.1048C>A|p.Leu350Met|1322/4022|1048/2217|350/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|10/19|c.985C>A|p.Leu329Met|1344/4055|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|9/18|c.985C>A|p.Leu329Met|1202/3908|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|10/19|c.985C>A|p.Leu329Met|1198/2725|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|9/18|c.952C>A|p.Leu318Met|1003/2486|952/2121|318/706||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.1048C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.985C>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.985C>A||||||,T|upstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.-1G>T|||||241|,T|upstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.-1G>T|||||1111|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000455125|protein_coding||c.-1C>A|||||2961|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000470642|retained_intron||n.-1C>A|||||3137|,T|downstream_gene_variant|MODIFIER|RP3-508I15.18|ENSG00000244491|transcript|ENST00000420118|antisense||n.*461G>T|||||3619|,T|downstream_gene_variant|MODIFIER|RP3-508I15.19|ENSG00000230149|transcript|ENST00000418803|antisense||n.*527G>T|||||3394|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000458073|protein_coding||c.*1050G>T|||||4085|,T|downstream_gene_variant|MODIFIER|GTPBP1|ENSG00000100226|transcript|ENST00000489527|protein_coding||c.*122G>T|||||4089|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.*431C>A|||||2691|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding||c.*1012C>A|||||3303|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.165+3217G>T||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron|1/7|n.55C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron|1/5|n.98C>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron|1/4|n.195C>A||||||
22	39141702	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.863C>T|p.Ser288Leu|1137/4022|863/2217|288/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.800C>T|p.Ser267Leu|1159/4055|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.800C>T|p.Ser267Leu|1017/3908|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.800C>T|p.Ser267Leu|1013/2725|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.767C>T|p.Ser256Leu|818/2486|767/2121|256/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.368C>T|p.Ser123Leu|370/454|368/429|123/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.662C>T|p.Ser221Leu|1002/1012|662/672|221/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.863C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.800C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.800C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1C>T|||||3259|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1C>T|||||3216|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1C>T|||||3119|,A|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491G>A|||||2582|,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||1787|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||4068|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||4069|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||4528|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-3010G>A||||||
22	39141729	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.836A>G|p.Asp279Gly|1110/4022|836/2217|279/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.773A>G|p.Asp258Gly|1132/4055|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.773A>G|p.Asp258Gly|990/3908|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.773A>G|p.Asp258Gly|986/2725|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.740A>G|p.Asp247Gly|791/2486|740/2121|247/706||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.341A>G|p.Asp114Gly|343/454|341/429|114/142||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.635A>G|p.Asp212Gly|975/1012|635/672|212/223||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.836A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.773A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.773A>G||||||,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1A>G|||||3286|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1A>G|||||3243|,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1A>G|||||3146|,C|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491T>C|||||2609|,C|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416T>C|||||1814|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004A>G|||||4041|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560A>G|||||4042|,C|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538A>G|||||4501|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-2983T>C||||||
22	39141766	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.799G>A|p.Val267Ile|1073/4022|799/2217|267/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.736G>A|p.Val246Ile|1095/4055|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.736G>A|p.Val246Ile|953/3908|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.736G>A|p.Val246Ile|949/2725|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.703G>A|p.Val235Ile|754/2486|703/2121|235/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.304G>A|p.Val102Ile|306/454|304/429|102/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.598G>A|p.Val200Ile|938/1012|598/672|200/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.799G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.736G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.736G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1G>A|||||3323|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1G>A|||||3280|,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1G>A|||||3183|,T|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491C>T|||||2646|,T|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416C>T|||||1851|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004G>A|||||4004|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560G>A|||||4005|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||4464|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-2946C>T||||||
22	39141778	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|8/18|c.787C>T|p.His263Tyr|1061/4022|787/2217|263/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|9/19|c.724C>T|p.His242Tyr|1083/4055|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|8/18|c.724C>T|p.His242Tyr|941/3908|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|9/19|c.724C>T|p.His242Tyr|937/2725|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|8/18|c.691C>T|p.His231Tyr|742/2486|691/2121|231/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|4/5|c.292C>T|p.His98Tyr|294/454|292/429|98/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|8/8|c.586C>T|p.His196Tyr|926/1012|586/672|196/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|16/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|9/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|17/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|11/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|18/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|8/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|15/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|14/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|10/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|12/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000405018|protein_coding|13/18|c.787C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|17/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|10/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|18/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|12/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|19/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|9/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|16/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|15/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|11/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|13/19|c.724C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Perinuclear_space|ENST00000406622|protein_coding|14/19|c.724C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000477262|retained_intron||n.-1C>T|||||3335|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000469086|retained_intron||n.-1C>T|||||3292|,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000464202|retained_intron||n.-1C>T|||||3195|,A|downstream_gene_variant|MODIFIER|RP3-508I15.21|ENSG00000272669|transcript|ENST00000609212|antisense||n.*491G>A|||||2658|,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||1863|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||3992|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||3993|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||4452|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|1/1|n.166-2934G>A||||||
22	39144747	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|7/18|c.719C>T|p.Pro240Leu|993/4022|719/2217|240/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|8/19|c.656C>T|p.Pro219Leu|1015/4055|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|7/18|c.656C>T|p.Pro219Leu|873/3908|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|8/19|c.656C>T|p.Pro219Leu|869/2725|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|7/18|c.623C>T|p.Pro208Leu|674/2486|623/2121|208/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|3/5|c.224C>T|p.Pro75Leu|226/454|224/429|75/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|7/8|c.518C>T|p.Pro173Leu|858/1012|518/672|173/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000405018|protein_coding|8/18|c.719C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000405018|protein_coding|7/18|c.719C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000406622|protein_coding|9/19|c.656C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|transmembrane_region:Transmembrane_region|ENST00000406622|protein_coding|8/19|c.656C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||4832|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||1023|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||1024|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||1483|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||2146|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||2156|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||2250|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||2265|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||2278|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|2/2|n.201G>A||||||
22	39144768	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|7/18|c.698C>T|p.Thr233Met|972/4022|698/2217|233/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|8/19|c.635C>T|p.Thr212Met|994/4055|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|7/18|c.635C>T|p.Thr212Met|852/3908|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|8/19|c.635C>T|p.Thr212Met|848/2725|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|7/18|c.602C>T|p.Thr201Met|653/2486|602/2121|201/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|3/5|c.203C>T|p.Thr68Met|205/454|203/429|68/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|7/8|c.497C>T|p.Thr166Met|837/1012|497/672|166/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.635C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.635C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.22|ENSG00000273076|transcript|ENST00000607991|antisense||n.*416G>A|||||4853|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding||c.*1004C>T|||||1002|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.*560C>T|||||1003|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538C>T|||||1462|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||2125|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||2135|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||2229|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||2244|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||2257|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense|2/2|n.222G>A||||||
22	39145816	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|6/18|c.632G>A|p.Arg211His|906/4022|632/2217|211/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|7/19|c.569G>A|p.Arg190His|928/4055|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|6/18|c.569G>A|p.Arg190His|786/3908|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|7/19|c.569G>A|p.Arg190His|782/2725|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|6/18|c.536G>A|p.Arg179His|587/2486|536/2121|179/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|2/5|c.137G>A|p.Arg46His|139/454|137/429|46/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|6/8|c.431G>A|p.Arg144His|771/1012|431/672|144/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|6/6|c.569G>A|p.Arg190His|958/1004|569/615|190/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.569G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.569G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||770|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding||c.*538G>A|||||414|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||1077|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||1087|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||1181|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||1196|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||1209|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|4/4|n.515G>A||||||
22	39146265	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.548C>T|p.Ala183Val|822/4022|548/2217|183/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.485C>T|p.Ala162Val|844/4055|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.485C>T|p.Ala162Val|702/3908|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.485C>T|p.Ala162Val|698/2725|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.452C>T|p.Ala151Val|503/2486|452/2121|151/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.53C>T|p.Ala18Val|55/454|53/429|18/142||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.347C>T|p.Ala116Val|687/1012|347/672|116/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.485C>T|p.Ala162Val|874/1004|485/615|162/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.347C>T|p.Ala116Val|503/538|347/382|116/126||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.485C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.485C>T||||||,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||1219|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621C>T|||||628|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746C>T|||||638|,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444C>T|||||732|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545C>T|||||747|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546C>T|||||760|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.431C>T||||||
22	39146275	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.538G>A|p.Val180Ile|812/4022|538/2217|180/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.475G>A|p.Val159Ile|834/4055|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.475G>A|p.Val159Ile|692/3908|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.475G>A|p.Val159Ile|688/2725|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.442G>A|p.Val148Ile|493/2486|442/2121|148/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.43G>A|p.Val15Ile|45/454|43/429|15/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.337G>A|p.Val113Ile|677/1012|337/672|113/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.475G>A|p.Val159Ile|864/1004|475/615|159/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.337G>A|p.Val113Ile|493/538|337/382|113/126||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.475G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.475G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1229|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||618|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||628|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||722|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||737|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||750|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.421G>A||||||
22	39146283	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.530G>A|p.Arg177Gln|804/4022|530/2217|177/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.467G>A|p.Arg156Gln|826/4055|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.467G>A|p.Arg156Gln|684/3908|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.467G>A|p.Arg156Gln|680/2725|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.434G>A|p.Arg145Gln|485/2486|434/2121|145/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.35G>A|p.Arg12Gln|37/454|35/429|12/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.329G>A|p.Arg110Gln|669/1012|329/672|110/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.467G>A|p.Arg156Gln|856/1004|467/615|156/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.329G>A|p.Arg110Gln|485/538|329/382|110/126||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.467G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.467G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1237|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||610|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||620|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||714|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||729|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||742|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.413G>A||||||
22	39146314	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|5/18|c.499G>A|p.Val167Met|773/4022|499/2217|167/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|6/19|c.436G>A|p.Val146Met|795/4055|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|5/18|c.436G>A|p.Val146Met|653/3908|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|6/19|c.436G>A|p.Val146Met|649/2725|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|5/18|c.403G>A|p.Val135Met|454/2486|403/2121|135/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding|1/5|c.4G>A|p.Val2Met|6/454|4/429|2/142||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|5/8|c.298G>A|p.Val100Met|638/1012|298/672|100/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|5/6|c.436G>A|p.Val146Met|825/1004|436/615|146/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|5/5|c.298G>A|p.Val100Met|454/538|298/382|100/126||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.436G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.436G>A||||||,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1268|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding||c.*621G>A|||||579|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron||n.*746G>A|||||589|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||683|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||698|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||711|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|3/4|n.382G>A||||||
22	39146965	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|4/18|c.362G>A|p.Arg121His|636/4022|362/2217|121/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|5/19|c.362G>A|p.Arg121His|721/4055|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|4/18|c.362G>A|p.Arg121His|579/3908|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|5/19|c.362G>A|p.Arg121His|575/2725|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|4/6|c.362G>A|p.Arg121His|751/1004|362/615|121/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|5/5|c.362G>A|p.Arg121His|549/621|362/434|121/143||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.362G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.362G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3G>A|||||646|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||1919|,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding||c.*444G>A|||||32|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding||c.*545G>A|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding||c.*546G>A|||||60|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/17|c.391+250G>A||||||,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/7|c.286+250G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/4|c.286+250G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|2/4|n.308G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.684G>A||||||
22	39147235	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/18|c.266T>G|p.Leu89Arg|540/4022|266/2217|89/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/19|c.266T>G|p.Leu89Arg|625/4055|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/18|c.266T>G|p.Leu89Arg|483/3908|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/19|c.266T>G|p.Leu89Arg|479/2725|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/18|c.371T>G|p.Leu124Arg|422/2486|371/2121|124/706||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/8|c.266T>G|p.Leu89Arg|606/1012|266/672|89/223||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/6|c.266T>G|p.Leu89Arg|655/1004|266/615|89/204||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/5|c.266T>G|p.Leu89Arg|422/538|266/382|89/126||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/5|c.266T>G|p.Leu89Arg|453/621|266/434|89/143||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/4|c.266T>G|p.Leu89Arg|380/444|266/330|89/109||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/4|c.266T>G|p.Leu89Arg|437/545|266/374|89/123||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/5|c.266T>G|p.Leu89Arg|510/546|266/302|89/99||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.266T>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.266T>G||||||,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3T>G|||||916|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500A>C|||||2189|,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/4|n.212T>G||||||,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.414T>G||||||
22	39147346	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|3/18|c.155G>A|p.Arg52His|429/4022|155/2217|52/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|4/19|c.155G>A|p.Arg52His|514/4055|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|3/18|c.155G>A|p.Arg52His|372/3908|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|4/19|c.155G>A|p.Arg52His|368/2725|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|4/18|c.260G>A|p.Arg87His|311/2486|260/2121|87/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|4/8|c.155G>A|p.Arg52His|495/1012|155/672|52/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|3/6|c.155G>A|p.Arg52His|544/1004|155/615|52/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|4/5|c.155G>A|p.Arg52His|311/538|155/382|52/126||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|4/5|c.155G>A|p.Arg52His|342/621|155/434|52/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|3/4|c.155G>A|p.Arg52His|269/444|155/330|52/109||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|3/4|c.155G>A|p.Arg52His|326/545|155/374|52/123||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|4/5|c.155G>A|p.Arg52His|399/546|155/302|52/99||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.155G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.155G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3G>A|||||1027|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||2300|,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron|1/4|n.101G>A||||||,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|4/4|n.303G>A||||||
22	39148537	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.97A>G|p.Thr33Ala|371/4022|97/2217|33/738||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.97A>G|p.Thr33Ala|456/4055|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.97A>G|p.Thr33Ala|314/3908|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.97A>G|p.Thr33Ala|310/2725|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.202A>G|p.Thr68Ala|253/2486|202/2121|68/706||,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.97A>G|p.Thr33Ala|437/1012|97/672|33/223||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.97A>G|p.Thr33Ala|486/1004|97/615|33/204||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.97A>G|p.Thr33Ala|253/538|97/382|33/126||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.97A>G|p.Thr33Ala|284/621|97/434|33/143||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.97A>G|p.Thr33Ala|211/444|97/330|33/109||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.97A>G|p.Thr33Ala|268/545|97/374|33/123||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.97A>G|p.Thr33Ala|341/546|97/302|33/99||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.97A>G||||||,C|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.97A>G||||||,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3A>G|||||2218|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1A>G|||||1091|,C|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500T>C|||||3491|,C|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.245A>G||||||
22	39148588	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.46G>A|p.Asp16Asn|320/4022|46/2217|16/738||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.46G>A|p.Asp16Asn|405/4055|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.46G>A|p.Asp16Asn|263/3908|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.46G>A|p.Asp16Asn|259/2725|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.151G>A|p.Asp51Asn|202/2486|151/2121|51/706||,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.46G>A|p.Asp16Asn|386/1012|46/672|16/223||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.46G>A|p.Asp16Asn|435/1004|46/615|16/204||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.46G>A|p.Asp16Asn|202/538|46/382|16/126||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.46G>A|p.Asp16Asn|233/621|46/434|16/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.46G>A|p.Asp16Asn|160/444|46/330|16/109||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.46G>A|p.Asp16Asn|217/545|46/374|16/123||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.46G>A|p.Asp16Asn|290/546|46/302|16/99||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.46G>A||||||,T|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.46G>A||||||,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3G>A|||||2269|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1G>A|||||1142|,T|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500C>T|||||3542|,T|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.194G>A||||||
22	39148606	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.28C>T|p.Arg10Cys|302/4022|28/2217|10/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.28C>T|p.Arg10Cys|387/4055|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.28C>T|p.Arg10Cys|245/3908|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.28C>T|p.Arg10Cys|241/2725|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.133C>T|p.Arg45Cys|184/2486|133/2121|45/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.28C>T|p.Arg10Cys|368/1012|28/672|10/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.28C>T|p.Arg10Cys|417/1004|28/615|10/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.28C>T|p.Arg10Cys|184/538|28/382|10/126||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.28C>T|p.Arg10Cys|215/621|28/434|10/143||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.28C>T|p.Arg10Cys|142/444|28/330|10/109||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.28C>T|p.Arg10Cys|199/545|28/374|10/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.28C>T|p.Arg10Cys|272/546|28/302|10/99||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.28C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.28C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2287|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1160|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3560|,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.176C>T||||||
22	39148608	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405018|protein_coding|2/18|c.26C>T|p.Thr9Met|300/4022|26/2217|9/738||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000405510|protein_coding|3/19|c.26C>T|p.Thr9Met|385/4055|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000216064|protein_coding|2/18|c.26C>T|p.Thr9Met|243/3908|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|3/19|c.26C>T|p.Thr9Met|239/2725|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000411587|protein_coding|3/18|c.131C>T|p.Thr44Met|182/2486|131/2121|44/706||,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000438058|protein_coding|3/8|c.26C>T|p.Thr9Met|366/1012|26/672|9/223||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000456894|protein_coding|2/6|c.26C>T|p.Thr9Met|415/1004|26/615|9/204||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000420859|protein_coding|3/5|c.26C>T|p.Thr9Met|182/538|26/382|9/126||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000452294|protein_coding|3/5|c.26C>T|p.Thr9Met|213/621|26/434|9/143||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000433561|protein_coding|2/4|c.26C>T|p.Thr9Met|140/444|26/330|9/109||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000417332|protein_coding|2/4|c.26C>T|p.Thr9Met|197/545|26/374|9/123||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SUN2|ENSG00000100242|transcript|ENST00000439339|protein_coding|3/5|c.26C>T|p.Thr9Met|270/546|26/302|9/99||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|4/18|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|2/18|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000405018|protein_coding|3/18|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|5/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|3/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|7/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|4/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|8/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|topological_domain:Nuclear|ENST00000406622|protein_coding|6/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|5/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|3/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|4/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|compositionally_biased_region:Ser-rich|ENST00000406622|protein_coding|6/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|5/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|3/19|c.26C>T||||||,A|sequence_feature|LOW|SUN2|ENSG00000100242|region_of_interest:LMNA-binding|ENST00000406622|protein_coding|4/19|c.26C>T||||||,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000430185|protein_coding||c.-3C>T|||||2289|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000480307|retained_intron||n.-1C>T|||||1162|,A|downstream_gene_variant|MODIFIER|RP3-508I15.14|ENSG00000225450|transcript|ENST00000416406|antisense||n.*500G>A|||||3562|,A|non_coding_exon_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000494273|retained_intron|3/4|n.174C>T||||||
22	39176911	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|3/3|c.173C>T|p.Ala58Val|443/631|173/207|58/68||,A|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758C>T|||||4399|,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|3/3|c.153+20C>T||||||,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+13162C>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-1293C>T||||||
22	39176976	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DNAL4|ENSG00000100246|transcript|ENST00000216068|protein_coding|3/4|c.108G>T|p.Met36Ile|353/1504|108/318|36/105||,A|missense_variant|MODERATE|DNAL4|ENSG00000100246|transcript|ENST00000406199|protein_coding|3/3|c.108G>T|p.Met36Ile|378/631|108/207|36/68||,A|downstream_gene_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000475512|processed_transcript||n.*758G>T|||||4334|,A|intron_variant|MODIFIER|SUN2|ENSG00000100242|transcript|ENST00000406622|protein_coding|1/18|c.-138+13097G>T||||||,A|intron_variant|MODIFIER|DNAL4|ENSG00000100246|transcript|ENST00000486019|processed_transcript|1/1|n.82-1358G>T||||||
22	39218763	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.1354G>A|p.Ala452Thr|1478/5784|1354/1503|452/500||
22	39218819	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|5/5|c.1298T>C|p.Phe433Ser|1422/5784|1298/1503|433/500||
22	39219213	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|4/5|c.1153G>A|p.Ala385Thr|1277/5784|1153/1503|385/500||
22	39222512	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.1091A>G|p.Asn364Ser|1215/5784|1091/1503|364/500||
22	39222627	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.976C>T|p.Arg326Trp|1100/5784|976/1503|326/500||
22	39222635	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|3/5|c.968T>C|p.Met323Thr|1092/5784|968/1503|323/500||
22	39224312	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.830G>A|p.Arg277His|954/5784|830/1503|277/500||
22	39224357	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.785G>A|p.Arg262Gln|909/5784|785/1503|262/500||
22	39224453	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NPTXR|ENSG00000221890|transcript|ENST00000333039|protein_coding|2/5|c.689G>A|p.Gly230Asp|813/5784|689/1503|230/500||
22	39262225	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1228G>C|p.Ala410Pro|1352/6122|1228/1239|410/412||,G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.1174G>C|p.Ala392Pro|1200/3191|1174/1185|392/394||,G|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>C|||||3352|
22	39262240	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1213G>A|p.Gly405Ser|1337/6122|1213/1239|405/412||,T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.1159G>A|p.Gly387Ser|1185/3191|1159/1185|387/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||3337|
22	39262378	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1075C>T|p.Arg359Cys|1199/6122|1075/1239|359/412||,A|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.1021C>T|p.Arg341Cys|1047/3191|1021/1185|341/394||,A|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>T|||||3199|
22	39262411	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.1042G>A|p.Gly348Ser|1166/6122|1042/1239|348/412||,T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.988G>A|p.Gly330Ser|1014/3191|988/1185|330/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||3166|
22	39262740	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.713C>G|p.Pro238Arg|837/6122|713/1239|238/412||,C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.659C>G|p.Pro220Arg|685/3191|659/1185|220/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>G|||||2837|
22	39262800	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.653G>A|p.Ser218Asn|777/6122|653/1239|218/412||,T|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.599G>A|p.Ser200Asn|625/3191|599/1185|200/394||,T|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>A|||||2777|
22	39262852	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.601A>G|p.Lys201Glu|725/6122|601/1239|201/412||,C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.547A>G|p.Lys183Glu|573/3191|547/1185|183/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213A>G|||||2725|
22	39263032	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.421G>C|p.Gly141Arg|545/6122|421/1239|141/412||,G|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.367G>C|p.Gly123Arg|393/3191|367/1185|123/394||,G|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213G>C|||||2545|
22	39263050	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000407418|protein_coding|5/5|c.403C>G|p.Pro135Ala|527/6122|403/1239|135/412||,C|missense_variant|MODERATE|CBX6|ENSG00000183741|transcript|ENST00000216083|protein_coding|5/5|c.349C>G|p.Pro117Ala|375/3191|349/1185|117/394||,C|downstream_gene_variant|MODIFIER|CBX6|ENSG00000183741|transcript|ENST00000469420|retained_intron||n.*2213C>G|||||2527|
22	39355572	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|2/5|c.55A>G|p.Thr19Ala|225/1444|55/600|19/199||,G|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|3/6|c.55A>G|p.Thr19Ala|259/1478|55/600|19/199||,G|sequence_feature|LOW|APOBEC3A|ENSG00000128383|helix|ENST00000249116|protein_coding|2/5|c.55A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|2/2|n.225A>G||||||
22	39355632	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000249116|protein_coding|2/5|c.115C>T|p.Arg39Cys|285/1444|115/600|39/199||,T|missense_variant|MODERATE|APOBEC3A|ENSG00000128383|transcript|ENST00000402255|protein_coding|3/6|c.115C>T|p.Arg39Cys|319/1478|115/600|39/199||,T|sequence_feature|LOW|APOBEC3A|ENSG00000128383|beta_strand|ENST00000249116|protein_coding|2/5|c.115C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3A|ENSG00000128383|transcript|ENST00000488758|retained_intron|2/2|n.285C>T||||||
22	39382079	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|3/7|c.437C>A|p.Thr146Lys|492/1844|437/1473|146/490||,A|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|3/8|c.437C>A|p.Thr146Lys|544/1282|437/1074|146/357||,A|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|3/8|c.437C>A|p.Thr146Lys|482/1533|437/1149|146/382||,A|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|3/7|n.437C>A||||||
22	39382081	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|3/7|c.439A>G|p.Ile147Val|494/1844|439/1473|147/490||,G|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|3/8|c.439A>G|p.Ile147Val|546/1282|439/1074|147/357||,G|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|3/8|c.439A>G|p.Ile147Val|484/1533|439/1149|147/382||,G|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|3/7|n.439A>G||||||
22	39382348	.	A	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.500A>C|p.Gln167Pro|555/1844|500/1473|167/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.500A>C|p.Gln167Pro|607/1282|500/1074|167/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.500A>C|p.Gln167Pro|545/1533|500/1149|167/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.500A>C||||||
22	39382376	.	A	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.528A>C|p.Glu176Asp|583/1844|528/1473|176/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.528A>C|p.Glu176Asp|635/1282|528/1074|176/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.528A>C|p.Glu176Asp|573/1533|528/1149|176/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.528A>C||||||
22	39382387	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.539T>C|p.Phe180Ser|594/1844|539/1473|180/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.539T>C|p.Phe180Ser|646/1282|539/1074|180/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.539T>C|p.Phe180Ser|584/1533|539/1149|180/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.539T>C||||||
22	39382414	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|4/7|c.566T>C|p.Leu189Pro|621/1844|566/1473|189/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|4/8|c.566T>C|p.Leu189Pro|673/1282|566/1074|189/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|4/8|c.566T>C|p.Leu189Pro|611/1533|566/1149|189/382||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|4/7|n.566T>C||||||
22	39388046	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000402182|protein_coding|7/7|c.1026G>C|p.Glu342Asp|1081/1844|1026/1473|342/490||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000407298|protein_coding|7/8|c.951G>C|p.Glu317Asp|1058/1282|951/1074|317/357||,C|missense_variant|MODERATE|APOBEC3B|ENSG00000179750|transcript|ENST00000333467|protein_coding|7/8|c.1026G>C|p.Glu342Asp|1071/1533|1026/1149|342/382||,C|3_prime_UTR_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|6/7|n.*116G>C|||||523|,C|intron_variant|MODIFIER|APOBEC3B-AS1|ENSG00000249310|transcript|ENST00000513758|antisense|4/4|n.631+357C>G||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3B|ENSG00000179750|transcript|ENST00000335760|nonsense_mediated_decay|6/7|n.*116G>C||||||
22	39411619	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/4|c.37T>C|p.Tyr13His|317/2818|37/573|13/190||,C|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1235T>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1235T>C||||||
22	39411711	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|2/4|c.129G>C|p.Lys43Asn|409/2818|129/573|43/190||,C|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|2/4|c.129G>C||||||,C|intron_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|1/2|n.17+1327G>C||||||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+1327G>C||||||
22	39413782	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.186G>C|p.Glu62Asp|466/2818|186/573|62/190||,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>C|||||3336|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>C|||||3675|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3398G>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.29G>C||||||
22	39413784	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.188C>T|p.Thr63Ile|468/2818|188/573|63/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.188C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408C>T|||||3334|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69C>T|||||3673|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3400C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.31C>T||||||
22	39413871	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.275C>T|p.Thr92Ile|555/2818|275/573|92/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000361441|protein_coding|3/4|c.275C>T||||||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|3/4|c.275C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408C>T|||||3247|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69C>T|||||3586|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3487C>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.118C>T||||||
22	39414026	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.430G>A|p.Ala144Thr|710/2818|430/573|144/190||,A|sequence_feature|LOW|APOBEC3C|ENSG00000244509|beta_strand|ENST00000361441|protein_coding|3/4|c.430G>A||||||,A|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*87G>A|||||87|,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>A|||||3092|,A|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>A|||||3431|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3642G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*87G>A||||||
22	39414042	.	A	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|3/4|c.446A>C|p.Asp149Ala|726/2818|446/573|149/190||,C|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*103A>C|||||103|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408A>C|||||3076|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69A>C|||||3415|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3658A>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|2/3|n.*103A>C||||||
22	39414282	.	T	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|4/4|c.463T>C|p.Tyr155His|743/2818|463/573|155/190||,C|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|3/4|c.463T>C||||||,C|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.463T>C||||||,C|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*120T>C|||||343|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408T>C|||||2836|,C|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69T>C|||||3175|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3898T>C||||||,C|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*120T>C||||||
22	39414382	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding|4/4|c.563G>T|p.Ser188Ile|843/2818|563/573|188/190||,T|sequence_feature|LOW|APOBEC3C|ENSG00000244509|helix|ENST00000361441|protein_coding|4/4|c.563G>T||||||,T|3_prime_UTR_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*220G>T|||||443|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding||c.-408G>T|||||2736|,T|upstream_gene_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding||c.-69G>T|||||3075|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|1/6|c.17+3998G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000428892|nonsense_mediated_decay|3/3|n.*220G>T||||||
22	39421112	.	T	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.248T>G|p.Phe83Cys|655/2528|248/1161|83/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.248T>G|p.Phe83Cys|248/1161|248/1161|83/386||,G|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.248T>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853T>G|||||4755|,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2093T>G||||||
22	39421118	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.254C>T|p.Ser85Phe|661/2528|254/1161|85/386||,T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.254C>T|p.Ser85Phe|254/1161|254/1161|85/386||,T|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.254C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853C>T|||||4761|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2099C>T||||||
22	39421122	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.258G>C|p.Trp86Cys|665/2528|258/1161|86/386||,C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.258G>C|p.Trp86Cys|258/1161|258/1161|86/386||,C|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.258G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>C|||||4765|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2103G>C||||||
22	39421136	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.272G>C|p.Arg91Pro|679/2528|272/1161|91/386||,C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.272G>C|p.Arg91Pro|272/1161|272/1161|91/386||,C|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.272G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>C|||||4779|,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2117G>C||||||
22	39421153	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.289C>T|p.Arg97Cys|696/2528|289/1161|97/386||,T|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.289C>T|p.Arg97Cys|289/1161|289/1161|97/386||,T|sequence_feature|LOW|APOBEC3D|ENSG00000243811|domain:CMP/dCMP_deaminase_zinc-binding_1|ENST00000381568|protein_coding|3/7|c.289C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853C>T|||||4796|,T|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2134C>T||||||
22	39421201	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.337G>A|p.Val113Met|744/2528|337/1161|113/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.337G>A|p.Val113Met|337/1161|337/1161|113/386||,A|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>A|||||4844|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2182G>A||||||
22	39421240	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|3/7|c.376G>A|p.Val126Ile|783/2528|376/1161|126/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|3/7|c.376G>A|p.Val126Ile|376/1161|376/1161|126/386||,A|downstream_gene_variant|MODIFIER|APOBEC3C|ENSG00000244509|transcript|ENST00000361441|protein_coding||c.*853G>A|||||4883|,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2221G>A||||||
22	39421586	.	T	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.515T>G|p.Phe172Cys|922/2528|515/1161|172/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.515T>G|p.Phe172Cys|515/1161|515/1161|172/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2567T>G||||||
22	39421592	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.521G>A|p.Cys174Tyr|928/2528|521/1161|174/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.521G>A|p.Cys174Tyr|521/1161|521/1161|174/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2573G>A||||||
22	39421595	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.524A>G|p.Asn175Ser|931/2528|524/1161|175/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.524A>G|p.Asn175Ser|524/1161|524/1161|175/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2576A>G||||||
22	39421607	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.536C>A|p.Pro179Gln|943/2528|536/1161|179/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.536C>A|p.Pro179Gln|536/1161|536/1161|179/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2588C>A||||||
22	39421612	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.541A>G|p.Met181Val|948/2528|541/1161|181/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.541A>G|p.Met181Val|541/1161|541/1161|181/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2593A>G||||||
22	39421622	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|4/7|c.551A>G|p.Tyr184Cys|958/2528|551/1161|184/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|4/7|c.551A>G|p.Tyr184Cys|551/1161|551/1161|184/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.210+2603A>G||||||
22	39425443	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.681C>A|p.Asn227Lys|1088/2528|681/1161|227/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.681C>A|p.Asn227Lys|681/1161|681/1161|227/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2256C>A||||||
22	39425474	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.712A>G|p.Thr238Ala|1119/2528|712/1161|238/386||,G|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.712A>G|p.Thr238Ala|712/1161|712/1161|238/386||,G|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2225A>G||||||
22	39425505	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.743G>A|p.Arg248Lys|1150/2528|743/1161|248/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.743G>A|p.Arg248Lys|743/1161|743/1161|248/386||,A|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2194G>A||||||
22	39425510	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|5/7|c.748G>C|p.Val250Leu|1155/2528|748/1161|250/386||,C|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|5/7|c.748G>C|p.Val250Leu|748/1161|748/1161|250/386||,C|intron_variant|MODIFIER|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|2/3|c.211-2189G>C||||||
22	39428289	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|7/7|c.1129C>A|p.Leu377Met|1536/2528|1129/1161|377/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|7/7|c.1129C>A|p.Leu377Met|1129/1161|1129/1161|377/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|4/4|c.577C>A|p.Leu193Met|645/728|577/609|193/202||
22	39428305	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000216099|protein_coding|7/7|c.1145G>A|p.Arg382Gln|1552/2528|1145/1161|382/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000381568|protein_coding|7/7|c.1145G>A|p.Arg382Gln|1145/1161|1145/1161|382/386||,A|missense_variant|MODERATE|APOBEC3D|ENSG00000243811|transcript|ENST00000427494|protein_coding|4/4|c.593G>A|p.Arg198Gln|661/728|593/609|198/202||
22	39440149	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.233C>T|p.Ala78Val|337/616|233/306|78/101||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3167C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3167C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3167C>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1C>T|||||1040|,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-797C>T||||||,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-797C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3167C>T||||||
22	39440176	.	A	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.260A>T|p.Gln87Leu|364/616|260/306|87/101||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3194A>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3194A>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3194A>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1A>T|||||1013|,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-770A>T||||||,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-770A>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3194A>T||||||
22	39440199	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding|3/3|c.283G>T|p.Gly95Cys|387/616|283/306|95/101||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+3217G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+3217G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+3217G>T||||||,T|upstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.-1G>T|||||990|,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|2/6|c.172-747G>T||||||,T|intron_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript|2/2|n.319-747G>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+3217G>T||||||
22	39441449	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/7|c.468G>T|p.Trp156Cys|825/2694|468/1122|156/373||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4467G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4467G>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4467G>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>T|||||252|,T|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410G>T|||||1021|,T|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4467G>T||||||,T|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.261G>T||||||
22	39441451	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/7|c.470A>G|p.Glu157Gly|827/2694|470/1122|157/373||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4469A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4469A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4469A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570A>G|||||254|,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410A>G|||||1023|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4469A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.263A>G||||||
22	39441478	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|4/7|c.497C>A|p.Pro166Gln|854/2694|497/1122|166/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+4496C>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+4496C>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+4496C>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570C>A|||||281|,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000381565|protein_coding||c.*410C>A|||||1050|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+4496C>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|1/3|n.290C>A||||||
22	39445449	.	T	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|5/7|c.586T>A|p.Tyr196Asn|943/2694|586/1122|196/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8467T>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8467T>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8467T>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570T>A|||||4252|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8467T>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|2/3|n.379T>A||||||
22	39445554	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|5/7|c.691G>A|p.Val231Ile|1048/2694|691/1122|231/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+8572G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+8572G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+8572G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000491387|processed_transcript||n.*570G>A|||||4357|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+8572G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron|2/3|n.484G>A||||||
22	39448615	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|7/7|c.1037A>G|p.Asn346Ser|1394/2694|1037/1122|346/373||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11633A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11633A>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11633A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730A>G|||||323|,G|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11633A>G||||||
22	39448695	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3F|ENSG00000128394|transcript|ENST00000308521|protein_coding|7/7|c.1117G>A|p.Glu373Lys|1474/2694|1117/1122|373/373||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|2/8|c.17+11713G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|3/8|c.17+11713G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Essential_for_cytoplasmic_localization|ENST00000452957|protein_coding|1/8|c.17+11713G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3F|ENSG00000128394|transcript|ENST00000476513|retained_intron||n.*730G>A|||||403|,A|intron_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|1/7|c.17+11713G>A||||||
22	39477173	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|3/8|c.407G>A|p.Arg136His|764/1834|407/1155|136/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|3/8|c.407G>A|p.Arg136His|449/1506|407/1155|136/384||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081G>A|||||1468|,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|2/3|n.536G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|3/5|n.475G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript|3/3|n.517G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|1/2|n.1507G>A||||||,A|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|1/2|n.534G>A||||||
22	39477566	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|4/8|c.557A>G|p.His186Arg|914/1834|557/1155|186/384||,G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|4/8|c.557A>G|p.His186Arg|599/1506|557/1155|186/384||,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000463934|retained_intron||n.*1081A>G|||||1861|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000486357|processed_transcript||n.*543A>G|||||367|,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron|3/3|n.686A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript|4/5|n.625A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron|2/2|n.1657A>G||||||,G|non_coding_exon_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron|2/2|n.684A>G||||||
22	39482314	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.766C>T|p.Arg256Cys|1123/1834|766/1155|256/384||,T|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.766C>T|p.Arg256Cys|808/1506|766/1155|256/384||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.766C>T||||||,T|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.766C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>T|||||4622|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>T|||||2425|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>T|||||3630|,T|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>T|||||3095|
22	39482315	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.767G>A|p.Arg256His|1124/1834|767/1155|256/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.767G>A|p.Arg256His|809/1506|767/1155|256/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.767G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.767G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4623|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2426|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3631|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3096|
22	39482359	.	C	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.811C>G|p.Leu271Val|1168/1834|811/1155|271/384||,G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.811C>G|p.Leu271Val|853/1506|811/1155|271/384||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.811C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.811C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|domain:CMP/dCMP_deaminase_zinc-binding_2|ENST00000452957|protein_coding|6/8|c.811C>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>G|||||4667|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>G|||||2470|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>G|||||3675|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>G|||||3140|
22	39482371	.	C	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.823C>G|p.Gln275Glu|1180/1834|823/1155|275/384||,G|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.823C>G|p.Gln275Glu|865/1506|823/1155|275/384||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.823C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.823C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|domain:CMP/dCMP_deaminase_zinc-binding_2|ENST00000452957|protein_coding|6/8|c.823C>G||||||,G|sequence_feature|LOW|APOBEC3G|ENSG00000239713|beta_strand|ENST00000452957|protein_coding|6/8|c.823C>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812C>G|||||4679|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803C>G|||||2482|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775C>G|||||3687|,G|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337C>G|||||3152|
22	39482461	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.913G>A|p.Val305Met|1270/1834|913/1155|305/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.913G>A|p.Val305Met|955/1506|913/1155|305/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.913G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.913G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|beta_strand|ENST00000452957|protein_coding|6/8|c.913G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4769|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2572|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3777|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3242|
22	39482536	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000407997|protein_coding|6/8|c.988G>A|p.Glu330Lys|1345/1834|988/1155|330/384||,A|missense_variant|MODERATE|APOBEC3G|ENSG00000239713|transcript|ENST00000452957|protein_coding|6/8|c.988G>A|p.Glu330Lys|1030/1506|988/1155|330/384||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|5/8|c.988G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|region_of_interest:Necessary_for_homooligomerization|ENST00000452957|protein_coding|6/8|c.988G>A||||||,A|sequence_feature|LOW|APOBEC3G|ENSG00000239713|helix|ENST00000452957|protein_coding|6/8|c.988G>A||||||,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000480000|retained_intron||n.*812G>A|||||4844|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000461827|processed_transcript||n.*803G>A|||||2647|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000494150|retained_intron||n.*2775G>A|||||3852|,A|downstream_gene_variant|MODIFIER|APOBEC3G|ENSG00000239713|transcript|ENST00000481958|retained_intron||n.*2337G>A|||||3317|
22	39496336	.	G	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.53G>T|p.Arg18Leu|129/1023|53/603|18/200||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.53G>T|p.Arg18Leu|180/639|53/465|18/154||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.53G>T|p.Arg18Leu|180/1047|53/552|18/183||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.53G>T|p.Arg18Leu|180/1046|53/549|18/182||,T|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.133G>T||||||
22	39496357	.	C	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|2/6|c.74C>G|p.Pro25Arg|150/1023|74/603|25/200||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|2/4|c.74C>G|p.Pro25Arg|201/639|74/465|25/154||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|2/5|c.74C>G|p.Pro25Arg|201/1047|74/552|25/183||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|2/5|c.74C>G|p.Pro25Arg|201/1046|74/549|25/182||,G|non_coding_exon_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron|2/2|n.154C>G||||||
22	39497300	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.209A>G|p.Glu70Gly|285/1023|209/603|70/200||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.209A>G|p.Glu70Gly|336/639|209/465|70/154||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.209A>G|p.Glu70Gly|336/1047|209/552|70/183||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.209A>G|p.Glu70Gly|336/1046|209/549|70/182||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000401756|protein_coding|3/6|c.209A>G||||||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000421988|protein_coding|3/4|c.209A>G||||||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000442487|protein_coding|3/5|c.209A>G||||||,G|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000348946|protein_coding|3/5|c.209A>G||||||,G|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338A>G|||||759|
22	39497303	.	C	T	.	.	ANN=T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.212C>T|p.Thr71Met|288/1023|212/603|71/200||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.212C>T|p.Thr71Met|339/639|212/465|71/154||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.212C>T|p.Thr71Met|339/1047|212/552|71/183||,T|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.212C>T|p.Thr71Met|339/1046|212/549|71/182||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000401756|protein_coding|3/6|c.212C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000421988|protein_coding|3/4|c.212C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000442487|protein_coding|3/5|c.212C>T||||||,T|sequence_feature|LOW|APOBEC3H|ENSG00000100298|domain:CMP/dCMP_deaminase_zinc-binding|ENST00000348946|protein_coding|3/5|c.212C>T||||||,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||762|
22	39497389	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.298G>C|p.Asp100His|374/1023|298/603|100/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.298G>C|p.Asp100His|425/639|298/465|100/154||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.298G>C|p.Asp100His|425/1047|298/552|100/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.298G>C|p.Asp100His|425/1046|298/549|100/182||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||848|
22	39497404	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.313G>C|p.Gly105Arg|389/1023|313/603|105/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.313G>C|p.Gly105Arg|440/639|313/465|105/154||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.313G>C|p.Gly105Arg|440/1047|313/552|105/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.313G>C|p.Gly105Arg|440/1046|313/549|105/182||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||863|
22	39497412	.	C	A,T	.	.	ANN=A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.321C>A|p.Phe107Leu|397/1023|321/603|107/200||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.321C>A|p.Phe107Leu|448/639|321/465|107/154||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.321C>A|p.Phe107Leu|448/1047|321/552|107/183||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.321C>A|p.Phe107Leu|448/1046|321/549|107/182||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.321C>T|p.Phe107Phe|397/1023|321/603|107/200||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.321C>T|p.Phe107Phe|448/639|321/465|107/154||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.321C>T|p.Phe107Phe|448/1047|321/552|107/183||,T|synonymous_variant|LOW|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.321C>T|p.Phe107Phe|448/1046|321/549|107/182||,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>A|||||871|,T|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>T|||||871|
22	39497452	.	A	G	.	.	ANN=G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.361A>G|p.Lys121Glu|437/1023|361/603|121/200||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.361A>G|p.Lys121Glu|488/639|361/465|121/154||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.361A>G|p.Lys121Glu|488/1047|361/552|121/183||,G|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.361A>G|p.Lys121Glu|488/1046|361/549|121/182||,G|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338A>G|||||911|
22	39497454	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|3/6|c.363G>C|p.Lys121Asn|439/1023|363/603|121/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/4|c.363G>C|p.Lys121Asn|490/639|363/465|121/154||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|3/5|c.363G>C|p.Lys121Asn|490/1047|363/552|121/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|3/5|c.363G>C|p.Lys121Asn|490/1046|363/549|121/182||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||913|
22	39497952	.	G	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|4/6|c.448G>A|p.Asp150Asn|524/1023|448/603|150/200||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|4/5|c.448G>A|p.Asp150Asn|575/1047|448/552|150/183||,A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|4/5|c.448G>A|p.Asp150Asn|575/1046|448/549|150/182||,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>A|||||1411|,A|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.418+443G>A||||||
22	39498038	.	G	C	.	.	ANN=C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|4/6|c.534G>C|p.Glu178Asp|610/1023|534/603|178/200||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|4/5|c.534G>C|p.Glu178Asp|661/1047|534/552|178/183||,C|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|4/5|c.534G>C|p.Glu178Asp|661/1046|534/549|178/182||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|coiled-coil_region|ENST00000401756|protein_coding|4/6|c.534G>C||||||,C|sequence_feature|LOW|APOBEC3H|ENSG00000100298|coiled-coil_region|ENST00000401756|protein_coding|5/6|c.534G>C||||||,C|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338G>C|||||1497|,C|intron_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding|3/3|c.419-479G>C||||||
22	39499698	.	C	A	.	.	ANN=A|missense_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000442487|protein_coding|5/5|c.548C>A|p.Ser183Tyr|675/1047|548/552|183/183||,A|missense_variant&splice_region_variant|MODERATE|APOBEC3H|ENSG00000100298|transcript|ENST00000348946|protein_coding|5/5|c.545C>A|p.Ser182Tyr|672/1046|545/549|182/182||,A|3_prime_UTR_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000401756|protein_coding|6/6|c.*39C>A|||||1122|,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000421988|protein_coding||c.*592C>A|||||1088|,A|downstream_gene_variant|MODIFIER|APOBEC3H|ENSG00000100298|transcript|ENST00000474235|retained_intron||n.*338C>A|||||3157|
22	39530409	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.595G>A|p.Glu199Lys|801/4081|595/756|199/251||,T|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.316G>A|p.Glu106Lys|316/784|316/477|106/158||,T|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472G>A|||||165|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13831G>A||||||,T|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.376G>A||||||
22	39530426	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.578C>T|p.Ala193Val|784/4081|578/756|193/251||,A|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.299C>T|p.Ala100Val|299/784|299/477|100/158||,A|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472C>T|||||148|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13848C>T||||||,A|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.359C>T||||||
22	39530475	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000216133|protein_coding|5/6|c.529C>G|p.Pro177Ala|735/4081|529/756|177/251||,C|missense_variant|MODERATE|CBX7|ENSG00000100307|transcript|ENST00000401405|protein_coding|5/6|c.250C>G|p.Pro84Ala|250/784|250/477|84/158||,C|downstream_gene_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000434260|protein_coding||c.*472C>G|||||99|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000475962|processed_transcript|1/1|n.45-13897C>G||||||,C|non_coding_exon_variant|MODIFIER|CBX7|ENSG00000100307|transcript|ENST00000490741|retained_intron|1/2|n.310C>G||||||
22	39621754	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|6/7|c.700G>A|p.Ala234Thr|1488/3497|700/726|234/241||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|6/7|c.655G>A|p.Ala219Thr|692/1125|655/681|219/226||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.700G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.700G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.655G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.655G>A||||||,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554G>A|||||4410|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556G>A|||||4435|WARNING_TRANSCRIPT_NO_STOP_CODON
22	39621819	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|6/7|c.635C>T|p.Thr212Met|1423/3497|635/726|212/241||,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|6/7|c.590C>T|p.Thr197Met|627/1125|590/681|197/226||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|5/7|c.635C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|6/7|c.635C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|5/7|c.590C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|6/7|c.590C>T||||||,A|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.*554C>T|||||4345|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.*556C>T|||||4370|WARNING_TRANSCRIPT_NO_STOP_CODON
22	39627821	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|4/7|c.262A>G|p.Ile88Val|1050/3497|262/726|88/241||,C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|4/7|c.217A>G|p.Ile73Val|254/1125|217/681|73/226||,C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|4/5|c.169A>G|p.Ile57Val|290/554|169/433|57/143||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|4/5|c.169A>G|p.Ile57Val|317/556|169/408|57/135||WARNING_TRANSCRIPT_NO_STOP_CODON
22	39629478	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|3/7|c.212G>A|p.Gly71Asp|1000/3497|212/726|71/241||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|3/7|c.167G>A|p.Gly56Asp|204/1125|167/681|56/226||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|3/5|c.119G>A|p.Gly40Asp|240/554|119/433|40/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|3/5|c.119G>A|p.Gly40Asp|267/556|119/408|40/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.212G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.212G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.212G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.167G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.167G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.167G>A||||||
22	39631786	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/7|c.157G>A|p.Gly53Arg|945/3497|157/726|53/241||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/7|c.112G>A|p.Gly38Arg|149/1125|112/681|38/226||,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/5|c.64G>A|p.Gly22Arg|185/554|64/433|22/143||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/5|c.64G>A|p.Gly22Arg|212/556|64/408|22/135||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.157G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.157G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.157G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.112G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.112G>A||||||,T|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.112G>A||||||
22	39631788	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|2/7|c.155C>T|p.Pro52Leu|943/3497|155/726|52/241||,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding|2/7|c.110C>T|p.Pro37Leu|147/1125|110/681|37/226||,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding|2/5|c.62C>T|p.Pro21Leu|183/554|62/433|21/143||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding|2/5|c.62C>T|p.Pro21Leu|210/556|62/408|21/135||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|1/7|c.155C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|2/7|c.155C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000331163|protein_coding|3/7|c.155C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|1/7|c.110C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|2/7|c.110C>T||||||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|maturation_peptide:Removed_in_mature_form|ENST00000381551|protein_coding|3/7|c.110C>T||||||
22	39639934	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PDGFB|ENSG00000100311|transcript|ENST00000331163|protein_coding|1/7|c.35G>T|p.Cys12Phe|823/3497|35/726|12/241||,A|sequence_feature|LOW|PDGFB|ENSG00000100311|signal_peptide|ENST00000331163|protein_coding|1/7|c.35G>T||||||,A|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000381551|protein_coding||c.-38G>T|||||3020|,A|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000455790|protein_coding||c.-122G>T|||||913|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PDGFB|ENSG00000100311|transcript|ENST00000440375|protein_coding||c.-149G>T|||||2799|WARNING_TRANSCRIPT_NO_STOP_CODON
22	39708965	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|10/10|c.1192G>A|p.Ala398Thr|1366/1442|1192/1212|398/403||,T|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding|9/9|c.1036G>A|p.Ala346Thr|1211/1289|1036/1056|346/351||,T|downstream_gene_variant|MODIFIER|SNORD83B|ENSG00000209480|transcript|ENST00000386745|snoRNA||n.*93G>A|||||859|,T|downstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.*95G>A|||||2253|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding||c.*1205G>A|||||747|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.*557G>A|||||971|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.*481G>A|||||1190|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.*916G>A|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.*557G>A|||||2402|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding||c.*782G>A|||||2409|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay||n.*569G>A|||||2592|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron||n.*827G>A|||||4091|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron||n.*630G>A|||||4436|,T|downstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron||n.*767G>A|||||4895|,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000464182|retained_intron|2/2|n.540G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000473638|retained_intron|2/2|n.447G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|10/10|n.2032G>A||||||,T|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron|3/3|n.1323G>A||||||
22	39715592	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|1/5|c.8T>C|p.Val3Ala|9/782|8/781|3/259||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/9|c.3+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/4|n.3+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/2|n.55+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/1|n.29+8T>C||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-351T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-351T>C|||||1148|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1T>C|||||4280|,G|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1T>C|||||474|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176T>C|||||973|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1T>C|||||4622|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1T>C|||||4101|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1T>C|||||4158|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1T>C|||||476|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1T>C|||||2519|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1T>C|||||10|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+140T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|1/3|n.6T>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/2|n.39T>C||||||
22	39715593	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RPL3|ENSG00000100316|transcript|ENST00000427905|protein_coding|1/5|c.7G>C|p.Val3Leu|8/782|7/781|3/259||WARNING_TRANSCRIPT_INCOMPLETE,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000216146|protein_coding|1/9|c.3+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000420536|nonsense_mediated_decay|1/4|n.3+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000484615|retained_intron|1/2|n.55+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|ENSG00000100316|transcript|ENST00000461967|retained_intron|1/1|n.29+7G>C||||||,G|5_prime_UTR_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000402527|protein_coding|1/8|c.-352G>C|||||1149|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SNORD83A|ENSG00000209482|transcript|ENST00000386747|snoRNA||n.-1G>C|||||4281|,G|upstream_gene_variant|MODIFIER|SNORD43|ENSG00000263764|transcript|ENST00000583861|snoRNA||n.-1G>C|||||475|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000401609|protein_coding||c.-176G>C|||||974|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000467105|retained_intron||n.-1G>C|||||4623|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000481985|retained_intron||n.-1G>C|||||4102|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000471290|processed_transcript||n.-1G>C|||||4159|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000453303|protein_coding||c.-1G>C|||||477|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000484358|retained_intron||n.-1G>C|||||2520|,G|upstream_gene_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000498462|retained_intron||n.-1G>C|||||11|,G|intron_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000465618|processed_transcript|1/9|n.663+139G>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000460589|retained_intron|1/3|n.5G>C||||||,G|non_coding_exon_variant|MODIFIER|RPL3|ENSG00000100316|transcript|ENST00000459859|processed_transcript|1/2|n.38G>C||||||
22	39760211	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/4|c.12A>C|p.Leu4Phe|37/1295|12/579|4/192||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10110A>C||||||,C|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10110A>C||||||
22	39760275	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|1/4|c.76A>G|p.Ser26Gly|101/1295|76/579|26/192||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|2/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|1/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|2/4|c.100-10046A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000318801|protein_coding|1/4|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|1/2|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|1/3|n.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|1/1|n.105-10046A>G||||||
22	39770507	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|2/4|c.286A>G|p.Ser96Gly|301/4391|286/702|96/233||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|2/4|c.286A>G|p.Ser96Gly|372/1353|286/576|96/191||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding|2/3|c.286A>G|p.Ser96Gly|348/497|286/357|96/118||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding|2/4|c.286A>G|p.Ser96Gly|306/564|286/510|96/169||,G|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|2/4|c.289A>G|p.Ser97Gly|314/1295|289/579|97/192||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.286A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.286A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.286A>G||||||,G|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.286A>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|2/4|n.286A>G||||||,G|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron|2/2|n.291A>G||||||
22	39773624	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding|4/4|c.505G>A|p.Val169Met|591/1353|505/576|169/191||,A|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding|4/4|c.508G>A|p.Val170Met|533/1295|508/579|170/192||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|2/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|1/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|3/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|domain:MARVEL|ENST00000328933|protein_coding|4/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|3/4|c.483+1422G>A||||||,A|sequence_feature|LOW|SYNGR1|ENSG00000100321|transmembrane_region:Transmembrane_region|ENST00000328933|protein_coding|4/4|c.483+1422G>A||||||,A|3_prime_UTR_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|4/4|n.*177G>A|||||2968|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000216155|protein_coding||c.*419G>A|||||1586|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530G>A|||||544|,A|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000489206|retained_intron||n.*1999G>A|||||1409|,A|intron_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|3/3|c.483+1422G>A||||||,A|non_coding_exon_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay|4/4|n.*177G>A||||||
22	39777788	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SYNGR1|ENSG00000100321|transcript|ENST00000328933|protein_coding|4/4|c.571G>C|p.Asp191His|586/4391|571/702|191/233||,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000318801|protein_coding||c.*662G>C|||||3402|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000415332|nonsense_mediated_decay||n.*459G>C|||||3872|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000406293|protein_coding||c.*530G>C|||||4708|,C|downstream_gene_variant|MODIFIER|SYNGR1|ENSG00000100321|transcript|ENST00000381535|protein_coding||c.*604G>C|||||3402|
22	39811081	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|2/11|c.104G>A|p.Arg35His|166/3237|104/1515|35/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|2/11|c.104G>A|p.Arg35His|123/1660|104/1389|35/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|2/11|c.104G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|2/11|c.104G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1G>A|||||1668|,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/4|n.255G>A||||||,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/3|n.347G>A||||||
22	39811120	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|2/11|c.143C>T|p.Pro48Leu|205/3237|143/1515|48/504||,T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|2/11|c.143C>T|p.Pro48Leu|162/1660|143/1389|48/462||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1C>T|||||1629|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|2/4|n.294C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|1/3|n.386C>T||||||
22	39811645	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|3/11|c.311G>A|p.Arg104His|373/3237|311/1515|104/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|3/11|c.311G>A|p.Arg104His|330/1660|311/1389|104/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|4/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|3/11|c.311G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|4/11|c.311G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.-1G>A|||||1104|,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron|3/4|n.462G>A||||||,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron|2/3|n.554G>A||||||
22	39813741	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.437C>T|p.Pro146Leu|499/3237|437/1515|146/504||,T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.437C>T|p.Pro146Leu|456/1660|437/1389|146/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|5/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.437C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|5/11|c.437C>T||||||,T|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1C>T|||||3999|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534C>T|||||887|,T|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573C>T|||||940|,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|2/2|n.160C>T||||||
22	39813759	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|5/11|c.455T>C|p.Leu152Pro|517/3237|455/1515|152/504||,C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|5/11|c.455T>C|p.Leu152Pro|474/1660|455/1389|152/462||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000216160|protein_coding|5/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.455T>C||||||,C|sequence_feature|LOW|TAB1|ENSG00000100324|helix|ENST00000331454|protein_coding|5/11|c.455T>C||||||,C|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1T>C|||||3981|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534T>C|||||905|,C|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573T>C|||||958|,C|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron|2/2|n.178T>C||||||
22	39814746	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|6/11|c.560G>A|p.Arg187His|622/3237|560/1515|187/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|6/11|c.560G>A|p.Arg187His|579/1660|560/1389|187/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|6/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.560G>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|6/11|c.560G>A||||||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1G>A|||||2994|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534G>A|||||1892|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573G>A|||||1945|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240G>A|||||925|
22	39815564	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|7/11|c.705T>G|p.Cys235Trp|767/3237|705/1515|235/504||,G|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|7/11|c.705T>G|p.Cys235Trp|724/1660|705/1389|235/462||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000216160|protein_coding|7/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.705T>G||||||,G|sequence_feature|LOW|TAB1|ENSG00000100324|beta_strand|ENST00000331454|protein_coding|7/11|c.705T>G||||||,G|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.-1T>G|||||2176|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473613|retained_intron||n.*534T>G|||||2710|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000461775|retained_intron||n.*573T>G|||||2763|,G|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000490819|retained_intron||n.*240T>G|||||1743|
22	39822748	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/11|c.962C>A|p.Thr321Asn|1024/3237|962/1515|321/504||,A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/11|c.962C>A|p.Thr321Asn|981/1660|962/1389|321/462||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.962C>A||||||,A|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.962C>A||||||,A|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/3|n.278C>A||||||
22	39822889	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|9/11|c.1103C>T|p.Pro368Leu|1165/3237|1103/1515|368/504||,T|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|9/11|c.1103C>T|p.Pro368Leu|1122/1660|1103/1389|368/462||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|3/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|7/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|8/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|9/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|4/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|5/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000216160|protein_coding|6/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|3/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|7/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|8/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|9/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|4/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|5/11|c.1103C>T||||||,T|sequence_feature|LOW|TAB1|ENSG00000100324|domain:PP2C-like|ENST00000331454|protein_coding|6/11|c.1103C>T||||||,T|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|2/3|n.419C>T||||||
22	39824055	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|10/11|c.1174G>C|p.Val392Leu|1236/3237|1174/1515|392/504||,C|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/11|c.1174G>C|p.Val392Leu|1193/1660|1174/1389|392/462||,C|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>C|||||4381|,C|non_coding_exon_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron|3/3|n.490G>C||||||
22	39826100	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1388G>A|p.Arg463His|1450/3237|1388/1515|463/504||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>A|||||2336|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574G>A|||||1961|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1912G>A||||||
22	39826111	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TAB1|ENSG00000100324|transcript|ENST00000216160|protein_coding|11/11|c.1399G>A|p.Ala467Thr|1461/3237|1399/1515|467/504||,A|upstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000488859|processed_transcript||n.-1G>A|||||2325|,A|downstream_gene_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000473491|retained_intron||n.*574G>A|||||1972|,A|intron_variant|MODIFIER|TAB1|ENSG00000100324|transcript|ENST00000331454|protein_coding|10/10|c.1307+1923G>A||||||
22	39883384	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.32T>C|p.Met11Thr|247/5062|32/1602|11/533||,C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.32T>C|p.Met11Thr|118/569|32/483|11/160||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.116T>C|p.Met39Thr|343/552|116/325|39/107||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|MGAT3|ENSG00000128268|transmembrane_region:Transmembrane_region|ENST00000341184|protein_coding|2/2|c.32T>C||||||
22	39883434	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.82A>T|p.Thr28Ser|297/5062|82/1602|28/533||,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.82A>T|p.Thr28Ser|168/569|82/483|28/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.166A>T|p.Thr56Ser|393/552|166/325|56/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.82A>T||||||
22	39883525	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.173C>T|p.Pro58Leu|388/5062|173/1602|58/533||,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.173C>T|p.Pro58Leu|259/569|173/483|58/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.257C>T|p.Pro86Leu|484/552|257/325|86/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.173C>T||||||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.173C>T||||||
22	39883564	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.212G>A|p.Arg71His|427/5062|212/1602|71/533||,A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.212G>A|p.Arg71His|298/569|212/483|71/160||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding|3/3|c.296G>A|p.Arg99His|523/552|296/325|99/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.212G>A||||||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.212G>A||||||
22	39883605	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.253C>T|p.Pro85Ser|468/5062|253/1602|85/533||,T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.253C>T|p.Pro85Ser|339/569|253/483|85/160||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.253C>T||||||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|compositionally_biased_region:Pro-rich|ENST00000341184|protein_coding|2/2|c.253C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||12|WARNING_TRANSCRIPT_INCOMPLETE
22	39883629	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.277C>G|p.Leu93Val|492/5062|277/1602|93/533||,G|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding|2/2|c.277C>G|p.Leu93Val|363/569|277/483|93/160||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.277C>G||||||,G|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>G|||||36|WARNING_TRANSCRIPT_INCOMPLETE
22	39883927	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.575A>C|p.Asn192Thr|790/5062|575/1602|192/533||,C|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.575A>C||||||,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569A>C|||||92|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552A>C|||||334|WARNING_TRANSCRIPT_INCOMPLETE
22	39884623	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1271C>A|p.Thr424Lys|1486/5062|1271/1602|424/533||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1271C>A||||||,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>A|||||788|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>A|||||1030|WARNING_TRANSCRIPT_INCOMPLETE
22	39884847	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1495G>C|p.Asp499His|1710/5062|1495/1602|499/533||,C|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1495G>C||||||,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569G>C|||||1012|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>C|||||1254|WARNING_TRANSCRIPT_INCOMPLETE
22	39884878	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1526C>T|p.Ala509Val|1741/5062|1526/1602|509/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1526C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||1043|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||1285|WARNING_TRANSCRIPT_INCOMPLETE
22	39884910	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1558G>A|p.Gly520Arg|1773/5062|1558/1602|520/533||,A|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1558G>A||||||,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569G>A|||||1075|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552G>A|||||1317|WARNING_TRANSCRIPT_INCOMPLETE
22	39884925	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MGAT3|ENSG00000128268|transcript|ENST00000341184|protein_coding|2/2|c.1573C>T|p.Arg525Trp|1788/5062|1573/1602|525/533||,T|sequence_feature|LOW|MGAT3|ENSG00000128268|topological_domain:Lumenal|ENST00000341184|protein_coding|2/2|c.1573C>T||||||,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000429402|protein_coding||c.*569C>T|||||1090|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|MGAT3|ENSG00000128268|transcript|ENST00000418314|protein_coding||c.*552C>T|||||1332|WARNING_TRANSCRIPT_INCOMPLETE
22	39907906	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.197C>T|p.Ser66Leu|694/2269|197/1437|66/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.197C>T|p.Ser66Leu|621/5625|197/1392|66/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.197C>T|p.Ser66Leu|747/3797|197/1392|66/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.197C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.197C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||479|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.197C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.197C>T||||||
22	39907917	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.208A>T|p.Ser70Cys|705/2269|208/1437|70/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.208A>T|p.Ser70Cys|632/5625|208/1392|70/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.208A>T|p.Ser70Cys|758/3797|208/1392|70/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.208A>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.208A>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744A>T|||||490|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.208A>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.208A>T||||||
22	39907941	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.232G>C|p.Gly78Arg|729/2269|232/1437|78/478||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.232G>C|p.Gly78Arg|656/5625|232/1392|78/463||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.232G>C|p.Gly78Arg|782/3797|232/1392|78/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.232G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.232G>C||||||,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>C|||||514|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.232G>C||||||,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.232G>C||||||
22	39907975	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|4/7|c.266C>T|p.Thr89Met|763/2269|266/1437|89/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|4/6|c.266C>T|p.Thr89Met|690/5625|266/1392|89/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|5/7|c.266C>T|p.Thr89Met|816/3797|266/1392|89/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.266C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.266C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||548|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/6|n.266C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/7|n.266C>T||||||
22	39908249	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|5/7|c.335C>T|p.Pro112Leu|832/2269|335/1437|112/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|5/6|c.335C>T|p.Pro112Leu|759/5625|335/1392|112/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|6/7|c.335C>T|p.Pro112Leu|885/3797|335/1392|112/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.335C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.335C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||822|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/5|n.323-74C>T||||||,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/6|n.323-74C>T||||||
22	39908255	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|5/7|c.341G>A|p.Arg114Gln|838/2269|341/1437|114/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|5/6|c.341G>A|p.Arg114Gln|765/5625|341/1392|114/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|6/7|c.341G>A|p.Arg114Gln|891/3797|341/1392|114/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.341G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.341G>A||||||,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||828|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|4/5|n.323-68G>A||||||,A|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|5/6|n.323-68G>A||||||
22	39908419	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|5/7|c.505C>T|p.Arg169Trp|1002/2269|505/1437|169/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|5/6|c.505C>T|p.Arg169Trp|929/5625|505/1392|169/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|6/7|c.505C>T|p.Arg169Trp|1055/3797|505/1392|169/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|5/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Dimerization|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|region_of_interest:Important_for_interaction_with_DNM1L|ENST00000404569|protein_coding|6/7|c.505C>T||||||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||992|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|5/6|n.419C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|6/7|n.419C>T||||||
22	39909600	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.664G>A|p.Asp222Asn|1161/2269|664/1437|222/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.664G>A|p.Asp222Asn|1088/5625|664/1392|222/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.664G>A|p.Asp222Asn|1214/3797|664/1392|222/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.664G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.664G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*131G>A|||||1153|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*131G>A|||||1153|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2173|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*131G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*131G>A||||||
22	39909726	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.790G>A|p.Asp264Asn|1287/2269|790/1437|264/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.790G>A|p.Asp264Asn|1214/5625|790/1392|264/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.790G>A|p.Asp264Asn|1340/3797|790/1392|264/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.790G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.790G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*257G>A|||||1279|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*257G>A|||||1279|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2299|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*257G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*257G>A||||||
22	39909787	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.851A>G|p.Asp284Gly|1348/2269|851/1437|284/478||,G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.851A>G|p.Asp284Gly|1275/5625|851/1392|284/463||,G|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.851A>G|p.Asp284Gly|1401/3797|851/1392|284/463||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.851A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.851A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.851A>G||||||,G|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.851A>G||||||,G|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*318A>G|||||1340|,G|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*318A>G|||||1340|,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744A>G|||||2360|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*318A>G||||||,G|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*318A>G||||||
22	39909847	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.911G>A|p.Arg304His|1408/2269|911/1437|304/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.911G>A|p.Arg304His|1335/5625|911/1392|304/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.911G>A|p.Arg304His|1461/3797|911/1392|304/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.911G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.911G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.911G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.911G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*378G>A|||||1400|,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*378G>A|||||1400|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2420|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*378G>A||||||,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay|7/7|n.*378G>A||||||
22	39909907	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.971T>C|p.Val324Ala|1468/2269|971/1437|324/478||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.971T>C|p.Val324Ala|1395/5625|971/1392|324/463||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.971T>C|p.Val324Ala|1521/3797|971/1392|324/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.971T>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|beta_strand|ENST00000404569|protein_coding|7/7|c.971T>C||||||,C|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*438T>C|||||1460|,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744T>C|||||2480|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977T>C|||||36|,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*438T>C||||||
22	39909922	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.986G>A|p.Arg329Gln|1483/2269|986/1437|329/478||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.986G>A|p.Arg329Gln|1410/5625|986/1392|329/463||,A|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.986G>A|p.Arg329Gln|1536/3797|986/1392|329/463||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.986G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.986G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.986G>A||||||,A|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.986G>A||||||,A|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*453G>A|||||1475|,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>A|||||2495|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977G>A|||||51|,A|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*453G>A||||||
22	39909963	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1027C>T|p.Pro343Ser|1524/2269|1027/1437|343/478||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1027C>T|p.Pro343Ser|1451/5625|1027/1392|343/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1027C>T|p.Pro343Ser|1577/3797|1027/1392|343/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1027C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1027C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*494C>T|||||1516|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2536|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977C>T|||||92|,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*494C>T||||||
22	39910113	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/7|c.1177G>C|p.Ala393Pro|1674/2269|1177/1437|393/478||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1177G>C|p.Ala393Pro|1601/5625|1177/1392|393/463||,C|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1177G>C|p.Ala393Pro|1727/3797|1177/1392|393/463||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1177G>C||||||,C|sequence_feature|LOW|MIEF1|ENSG00000100335|helix|ENST00000404569|protein_coding|7/7|c.1177G>C||||||,C|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*644G>C|||||1666|,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744G>C|||||2686|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977G>C|||||242|,C|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*644G>C||||||
22	39910324	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding|6/6|c.1388C>T|p.Thr463Met|1812/5625|1388/1392|463/463||,T|missense_variant|MODERATE|MIEF1|ENSG00000100335|transcript|ENST00000404569|protein_coding|7/7|c.1388C>T|p.Thr463Met|1938/3797|1388/1392|463/463||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|7/7|c.1388C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|5/7|c.1388C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|4/7|c.1388C>T||||||,T|sequence_feature|LOW|MIEF1|ENSG00000100335|topological_domain:Cytoplasmic|ENST00000404569|protein_coding|6/7|c.1388C>T||||||,T|3_prime_UTR_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*855C>T|||||1877|,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000434364|protein_coding||c.*744C>T|||||2897|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000428069|nonsense_mediated_decay||n.*977C>T|||||453|,T|intron_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000402881|protein_coding|6/6|c.1293+95C>T||||||,T|non_coding_exon_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000433117|nonsense_mediated_decay|6/6|n.*855C>T||||||
22	39917515	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/2|c.65A>C|p.Gln22Pro|947/2019|65/1056|22/351||,C|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/4|c.65A>C|p.Gln22Pro|838/1910|65/1056|22/351||,C|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/3|c.65A>C|p.Gln22Pro|345/1420|65/1056|22/351||,C|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>C|||||3378|
22	39917584	.	A	T	.	.	ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/2|c.134A>T|p.Lys45Ile|1016/2019|134/1056|45/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/4|c.134A>T|p.Lys45Ile|907/1910|134/1056|45/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/3|c.134A>T|p.Lys45Ile|414/1420|134/1056|45/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>T|||||3447|
22	39917587	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|1/2|c.137C>T|p.Pro46Leu|1019/2019|137/1056|46/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|3/4|c.137C>T|p.Pro46Leu|910/1910|137/1056|46/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|2/3|c.137C>T|p.Pro46Leu|417/1420|137/1056|46/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3450|
22	39917952	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.401C>T|p.Pro134Leu|1283/2019|401/1056|134/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.401C>T|p.Pro134Leu|1174/1910|401/1056|134/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.401C>T|p.Pro134Leu|681/1420|401/1056|134/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3815|
22	39917955	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.404C>T|p.Pro135Leu|1286/2019|404/1056|135/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.404C>T|p.Pro135Leu|1177/1910|404/1056|135/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.404C>T|p.Pro135Leu|684/1420|404/1056|135/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3818|
22	39917960	.	A	T	.	.	ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.409A>T|p.Thr137Ser|1291/2019|409/1056|137/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.409A>T|p.Thr137Ser|1182/1910|409/1056|137/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.409A>T|p.Thr137Ser|689/1420|409/1056|137/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816A>T|||||3823|
22	39918036	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.485C>T|p.Pro162Leu|1367/2019|485/1056|162/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.485C>T|p.Pro162Leu|1258/1910|485/1056|162/351||,T|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.485C>T|p.Pro162Leu|765/1420|485/1056|162/351||,T|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>T|||||3899|
22	39918057	.	T	A	.	.	ANN=A|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.506T>A|p.Val169Asp|1388/2019|506/1056|169/351||,A|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.506T>A|p.Val169Asp|1279/1910|506/1056|169/351||,A|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.506T>A|p.Val169Asp|786/1420|506/1056|169/351||,A|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816T>A|||||3920|
22	39918323	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000337304|protein_coding|2/2|c.772C>G|p.Pro258Ala|1654/2019|772/1056|258/351||,G|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000404241|protein_coding|4/4|c.772C>G|p.Pro258Ala|1545/1910|772/1056|258/351||,G|missense_variant|MODERATE|ATF4|ENSG00000128272|transcript|ENST00000396680|protein_coding|3/3|c.772C>G|p.Pro258Ala|1052/1420|772/1056|258/351||,G|downstream_gene_variant|MODIFIER|MIEF1|ENSG00000100335|transcript|ENST00000325301|protein_coding||c.*1816C>G|||||4186|
22	39925564	.	T	G	.	.	ANN=G|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|4/4|c.344A>C|p.Lys115Thr|461/927|344/411|115/136||,G|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*225A>C|||||967|,G|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869A>C|||||2170|,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|2/2|n.2339A>C||||||,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*225A>C||||||,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|3/3|n.507A>C||||||,G|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.534A>C||||||
22	39925565	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|4/4|c.343A>G|p.Lys115Glu|460/927|343/411|115/136||,C|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*224A>G|||||966|,C|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869A>G|||||2169|,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|2/2|n.2338A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|5/5|n.*224A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|3/3|n.506A>G||||||,C|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.533A>G||||||
22	39925898	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|3/4|c.206G>A|p.Arg69Gln|323/927|206/411|69/136||,T|3_prime_UTR_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/5|n.*87G>A|||||633|,T|downstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron||n.*869G>A|||||1836|,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron|1/2|n.2201G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|4/5|n.*87G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|2/3|n.369G>A||||||,T|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|3/3|n.200G>A||||||
22	39928516	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|2/4|c.65C>T|p.Pro22Leu|182/927|65/411|22/136||,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||418|,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|2/5|n.65C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.228C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|2/3|n.59C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|2/2|n.87C>T||||||
22	39928517	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RPS19BP1|ENSG00000187051|transcript|ENST00000334678|protein_coding|2/4|c.64C>T|p.Pro22Ser|181/927|64/411|22/136||,A|upstream_gene_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000488602|retained_intron||n.-1C>T|||||419|,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000420879|nonsense_mediated_decay|2/5|n.64C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000459956|retained_intron|1/3|n.227C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000491966|retained_intron|2/3|n.58C>T||||||,A|non_coding_exon_variant|MODIFIER|RPS19BP1|ENSG00000187051|transcript|ENST00000472291|retained_intron|2/2|n.86C>T||||||
22	39966777	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|1/40|c.20C>T|p.Pro7Leu|20/10015|20/6690|7/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|1/35|c.20C>T|p.Pro7Leu|20/5952|20/5946|7/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|1/36|c.20C>T|p.Pro7Leu|20/6740|20/6051|7/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|1/39|c.20C>T|p.Pro7Leu|20/9892|20/6567|7/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|1/36|c.20C>T|p.Pro7Leu|20/9892|20/6567|7/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|1/37|c.20C>T|p.Pro7Leu|20/10004|20/6672|7/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|1/35|c.20C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|1/36|c.20C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|1/36|c.20C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|1/37|c.20C>T||||||
22	40037036	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|8/40|c.905A>G|p.Asp302Gly|905/10015|905/6690|302/2229||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|6/35|c.905A>G|p.Asp302Gly|905/5952|905/5946|302/1981||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|6/36|c.905A>G|p.Asp302Gly|905/6740|905/6051|302/2016||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|8/39|c.905A>G|p.Asp302Gly|905/9892|905/6567|302/2188||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|6/36|c.905A>G|p.Asp302Gly|905/9892|905/6567|302/2188||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|6/37|c.905A>G|p.Asp302Gly|905/10004|905/6672|302/2223||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|5/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|7/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|6/35|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|5/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|7/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|6/36|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.905A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.905A>G||||||,G|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1A>G|||||1766|
22	40037051	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|8/40|c.920G>A|p.Arg307His|920/10015|920/6690|307/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|6/35|c.920G>A|p.Arg307His|920/5952|920/5946|307/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|6/36|c.920G>A|p.Arg307His|920/6740|920/6051|307/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|8/39|c.920G>A|p.Arg307His|920/9892|920/6567|307/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|6/36|c.920G>A|p.Arg307His|920/9892|920/6567|307/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|6/37|c.920G>A|p.Arg307His|920/10004|920/6672|307/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|1/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|2/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|3/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|5/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|7/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|4/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|6/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000407673|protein_coding|8/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|5/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|7/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|6/35|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|1/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|2/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|3/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|5/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|7/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|4/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|6/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000401624|protein_coding|8/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|5/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|7/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|6/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|1/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|2/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|3/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|5/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|7/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|4/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|6/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000404898|protein_coding|8/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|5/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|7/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|6/36|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|1/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|2/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|3/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|5/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|7/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|4/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|6/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:I|ENST00000402142|protein_coding|8/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|5/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|7/37|c.920G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|6/37|c.920G>A||||||,A|upstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.-1G>A|||||1751|
22	40043877	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|11/40|c.1513C>A|p.His505Asn|1513/10015|1513/6690|505/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|9/36|c.1513C>A|p.His505Asn|1513/6740|1513/6051|505/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|9/37|c.1513C>A|p.His505Asn|1513/10004|1513/6672|505/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1513C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1513C>A||||||,A|downstream_gene_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000471970|processed_transcript||n.*168C>A|||||4360|,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|8/34|c.1462+991C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|10/38|c.1462+991C>A||||||,A|intron_variant|MODIFIER|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|8/35|c.1462+991C>A||||||
22	40045685	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1765G>A|p.Ala589Thr|1765/10015|1765/6690|589/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1642G>A|p.Ala548Thr|1642/5952|1642/5946|548/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1747G>A|p.Ala583Thr|1747/6740|1747/6051|583/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1642G>A|p.Ala548Thr|1642/9892|1642/6567|548/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1642G>A|p.Ala548Thr|1642/9892|1642/6567|548/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1747G>A|p.Ala583Thr|1747/10004|1747/6672|583/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1747G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1747G>A||||||
22	40045718	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1798G>T|p.Ala600Ser|1798/10015|1798/6690|600/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1675G>T|p.Ala559Ser|1675/5952|1675/5946|559/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1780G>T|p.Ala594Ser|1780/6740|1780/6051|594/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1675G>T|p.Ala559Ser|1675/9892|1675/6567|559/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1675G>T|p.Ala559Ser|1675/9892|1675/6567|559/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1780G>T|p.Ala594Ser|1780/10004|1780/6672|594/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1780G>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1780G>T||||||
22	40045841	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|12/40|c.1921G>C|p.Gly641Arg|1921/10015|1921/6690|641/2229||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|9/35|c.1798G>C|p.Gly600Arg|1798/5952|1798/5946|600/1981||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|10/36|c.1903G>C|p.Gly635Arg|1903/6740|1903/6051|635/2016||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|11/39|c.1798G>C|p.Gly600Arg|1798/9892|1798/6567|600/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|9/36|c.1798G>C|p.Gly600Arg|1798/9892|1798/6567|600/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|10/37|c.1903G>C|p.Gly635Arg|1903/10004|1903/6672|635/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|9/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|12/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|13/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|11/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000407673|protein_coding|10/35|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|10/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|9/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|8/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|10/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|13/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|14/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|12/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000401624|protein_coding|11/36|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|9/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|12/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|13/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|11/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000404898|protein_coding|10/36|c.1798G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|10/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|9/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|8/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|10/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|13/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|14/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|12/37|c.1903G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:II|ENST00000402142|protein_coding|11/37|c.1903G>C||||||
22	40057127	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|19/40|c.2731C>T|p.Pro911Ser|2731/10015|2731/6690|911/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|15/35|c.2608C>T|p.Pro870Ser|2608/5952|2608/5946|870/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|16/36|c.2713C>T|p.Pro905Ser|2713/6740|2713/6051|905/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|18/39|c.2608C>T|p.Pro870Ser|2608/9892|2608/6567|870/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|15/36|c.2608C>T|p.Pro870Ser|2608/9892|2608/6567|870/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|16/37|c.2713C>T|p.Pro905Ser|2713/10004|2713/6672|905/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.2608C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.2713C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.2713C>T||||||
22	40058186	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|20/40|c.3136A>G|p.Ile1046Val|3136/10015|3136/6690|1046/2229||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|16/35|c.3013A>G|p.Ile1005Val|3013/5952|3013/5946|1005/1981||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|17/36|c.3118A>G|p.Ile1040Val|3118/6740|3118/6051|1040/2016||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|19/39|c.3013A>G|p.Ile1005Val|3013/9892|3013/6567|1005/2188||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|16/36|c.3013A>G|p.Ile1005Val|3013/9892|3013/6567|1005/2188||,G|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|17/37|c.3118A>G|p.Ile1040Val|3118/10004|3118/6672|1040/2223||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|14/35|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|17/35|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|13/35|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|16/35|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|15/35|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000407673|protein_coding|18/35|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|15/36|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|18/36|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|14/36|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|17/36|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|16/36|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000401624|protein_coding|19/36|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|14/36|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|17/36|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|13/36|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|16/36|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|15/36|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|18/36|c.3013A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|15/37|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|18/37|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|14/37|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|17/37|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|16/37|c.3118A>G||||||,G|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|19/37|c.3118A>G||||||
22	40059828	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|22/40|c.3597G>C|p.Gln1199His|3597/10015|3597/6690|1199/2229||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|18/35|c.3474G>C|p.Gln1158His|3474/5952|3474/5946|1158/1981||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|19/36|c.3579G>C|p.Gln1193His|3579/6740|3579/6051|1193/2016||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|21/39|c.3474G>C|p.Gln1158His|3474/9892|3474/6567|1158/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|18/36|c.3474G>C|p.Gln1158His|3474/9892|3474/6567|1158/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|19/37|c.3579G>C|p.Gln1193His|3579/10004|3579/6672|1193/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|22/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|19/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|24/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|23/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|17/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|20/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|21/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000407673|protein_coding|18/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|19/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000407673|protein_coding|18/35|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|23/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|20/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|25/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|24/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|18/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|21/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|22/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000401624|protein_coding|19/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|20/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000401624|protein_coding|19/36|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|22/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|19/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|24/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|23/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|17/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|20/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|21/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000404898|protein_coding|18/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|19/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000404898|protein_coding|18/36|c.3474G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|23/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|20/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|25/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|24/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|18/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|21/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|22/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|repeat:III|ENST00000402142|protein_coding|19/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|20/37|c.3579G>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Extracellular|ENST00000402142|protein_coding|19/37|c.3579G>C||||||
22	40075341	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|35/40|c.5303C>T|p.Pro1768Leu|5303/10015|5303/6690|1768/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|31/35|c.5180C>T|p.Pro1727Leu|5180/5952|5180/5946|1727/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|32/36|c.5285C>T|p.Pro1762Leu|5285/6740|5285/6051|1762/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|34/39|c.5180C>T|p.Pro1727Leu|5180/9892|5180/6567|1727/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|31/36|c.5180C>T|p.Pro1727Leu|5180/9892|5180/6567|1727/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|32/37|c.5285C>T|p.Pro1762Leu|5285/10004|5285/6672|1762/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5180C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5285C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5285C>T||||||
22	40075733	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|36/40|c.5419C>A|p.Leu1807Met|5419/10015|5419/6690|1807/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|32/35|c.5296C>A|p.Leu1766Met|5296/5952|5296/5946|1766/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|33/36|c.5401C>A|p.Leu1801Met|5401/6740|5401/6051|1801/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|35/39|c.5296C>A|p.Leu1766Met|5296/9892|5296/6567|1766/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|32/36|c.5296C>A|p.Leu1766Met|5296/9892|5296/6567|1766/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|33/37|c.5401C>A|p.Leu1801Met|5401/10004|5401/6672|1801/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5296C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5401C>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5401C>A||||||
22	40077043	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|37/40|c.5668C>T|p.Arg1890Cys|5668/10015|5668/6690|1890/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|33/35|c.5545C>T|p.Arg1849Cys|5545/5952|5545/5946|1849/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|34/36|c.5650C>T|p.Arg1884Cys|5650/6740|5650/6051|1884/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|36/39|c.5545C>T|p.Arg1849Cys|5545/9892|5545/6567|1849/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|33/36|c.5545C>T|p.Arg1849Cys|5545/9892|5545/6567|1849/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|34/37|c.5650C>T|p.Arg1884Cys|5650/10004|5650/6672|1884/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5545C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5650C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5650C>T||||||
22	40078527	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|38/40|c.5709G>A|p.Met1903Ile|5709/10015|5709/6690|1903/2229||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|34/35|c.5586G>A|p.Met1862Ile|5586/5952|5586/5946|1862/1981||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|35/36|c.5691G>A|p.Met1897Ile|5691/6740|5691/6051|1897/2016||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|37/39|c.5586G>A|p.Met1862Ile|5586/9892|5586/6567|1862/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|34/36|c.5586G>A|p.Met1862Ile|5586/9892|5586/6567|1862/2188||,A|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|35/37|c.5691G>A|p.Met1897Ile|5691/10004|5691/6672|1897/2223||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5586G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5691G>A||||||,A|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5691G>A||||||
22	40078528	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|38/40|c.5710C>T|p.Arg1904Cys|5710/10015|5710/6690|1904/2229||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|34/35|c.5587C>T|p.Arg1863Cys|5587/5952|5587/5946|1863/1981||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|35/36|c.5692C>T|p.Arg1898Cys|5692/6740|5692/6051|1898/2016||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|37/39|c.5587C>T|p.Arg1863Cys|5587/9892|5587/6567|1863/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|34/36|c.5587C>T|p.Arg1863Cys|5587/9892|5587/6567|1863/2188||,T|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|35/37|c.5692C>T|p.Arg1898Cys|5692/10004|5692/6672|1898/2223||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5587C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5692C>T||||||,T|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5692C>T||||||
22	40080349	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000336649|protein_coding|39/40|c.5891T>C|p.Leu1964Pro|5891/10015|5891/6690|1964/2229||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000407673|protein_coding|35/35|c.5768T>C|p.Leu1923Pro|5768/5952|5768/5946|1923/1981||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000401624|protein_coding|36/36|c.5873T>C|p.Leu1958Pro|5873/6740|5873/6051|1958/2016||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000400164|protein_coding|38/39|c.5768T>C|p.Leu1923Pro|5768/9892|5768/6567|1923/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000404898|protein_coding|35/36|c.5768T>C|p.Leu1923Pro|5768/9892|5768/6567|1923/2188||,C|missense_variant|MODERATE|CACNA1I|ENSG00000100346|transcript|ENST00000402142|protein_coding|36/37|c.5873T>C|p.Leu1958Pro|5873/10004|5873/6672|1958/2223||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|32/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|36/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|35/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|34/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|31/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000404898|protein_coding|33/36|c.5768T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|33/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|37/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|36/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|35/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|32/37|c.5873T>C||||||,C|sequence_feature|LOW|CACNA1I|ENSG00000100346|topological_domain:Cytoplasmic|ENST00000402142|protein_coding|34/37|c.5873T>C||||||
22	40140046	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1462C>T|p.Leu488Phe|1713/2710|1462/1824|488/607||
22	40140181	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|7/7|c.1327G>A|p.Gly443Arg|1578/2710|1327/1824|443/607||
22	40161282	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.1165C>G|p.Pro389Ala|1416/2710|1165/1824|389/607||
22	40161439	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.1008G>C|p.Trp336Cys|1259/2710|1008/1824|336/607||
22	40161527	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.920C>A|p.Thr307Asn|1171/2710|920/1824|307/607||
22	40161572	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|6/7|c.875G>C|p.Arg292Thr|1126/2710|875/1824|292/607||
22	40217114	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|5/7|c.716T>C|p.Leu239Pro|967/2710|716/1824|239/607||
22	40257783	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.579G>C|p.Arg193Ser|830/2710|579/1824|193/607||
22	40257887	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.475A>G|p.Lys159Glu|726/2710|475/1824|159/607||
22	40257994	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.368A>G|p.Lys123Arg|619/2710|368/1824|123/607||,C|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.368A>G||||||,C|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.368A>G||||||
22	40258001	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|3/7|c.361C>T|p.Arg121Trp|612/2710|361/1824|121/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.361C>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.361C>T||||||
22	40283427	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.326T>C|p.Ile109Thr|577/2710|326/1824|109/607||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.326T>C||||||,G|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.326T>C||||||
22	40283682	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.71C>T|p.Ala24Val|322/2710|71/1824|24/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.71C>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.71C>T||||||
22	40283727	.	T	A	.	.	ANN=A|missense_variant|MODERATE|ENTHD1|ENSG00000176177|transcript|ENST00000325157|protein_coding|2/7|c.26A>T|p.Asn9Ile|277/2710|26/1824|9/607||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|2/7|c.26A>T||||||,A|sequence_feature|LOW|ENTHD1|ENSG00000176177|domain:ENTH|ENST00000325157|protein_coding|3/7|c.26A>T||||||
22	40356069	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|4/8|c.181G>A|p.Glu61Lys|444/3893|181/993|61/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000420971|protein_coding|4/4|c.181G>A|p.Glu61Lys|458/568|181/291|61/96||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|2/5|c.11G>A|p.Arg4Gln|228/1066|11/654|4/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|3/7|c.181G>A|p.Glu61Lys|471/1304|181/993|61/330||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|4/7|c.181G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH2|ENST00000407075|protein_coding|3/7|c.181G>A||||||,A|5_prime_UTR_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|3/7|c.-36G>A|||||36|,A|upstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.-1G>A|||||332|,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|3/7|c.170+4155G>A||||||,A|intron_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|1/4|c.93-5925G>A||||||,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript|3/4|n.354G>A||||||
22	40364052	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/8|c.466C>T|p.Arg156Trp|729/3893|466/993|156/330||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/8|c.346C>T|p.Arg116Trp|609/1100|346/837|116/278||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/5|c.268C>T|p.Arg90Trp|398/1279|268/795|90/264||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/7|c.250C>T|p.Arg84Trp|636/1425|250/777|84/258||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/5|c.127C>T|p.Arg43Trp|344/1066|127/654|43/217||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/7|c.466C>T|p.Arg156Trp|756/1304|466/993|156/330||,T|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1C>T|||||1327|,T|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287C>T|||||3365|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||1939|,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|2/2|n.116C>T||||||
22	40364122	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|6/8|c.536G>A|p.Arg179Gln|799/3893|536/993|179/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|5/8|c.416G>A|p.Arg139Gln|679/1100|416/837|139/278||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|3/5|c.338G>A|p.Arg113Gln|468/1279|338/795|113/264||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|5/7|c.320G>A|p.Arg107Gln|706/1425|320/777|107/258||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|3/5|c.197G>A|p.Arg66Gln|414/1066|197/654|66/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|5/7|c.536G>A|p.Arg179Gln|826/1304|536/993|179/330||,A|upstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron||n.-1G>A|||||1257|,A|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287G>A|||||3435|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||2009|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron|2/2|n.186G>A||||||
22	40365463	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|7/8|c.739G>A|p.Gly247Ser|1002/3893|739/993|247/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|6/8|c.619G>A|p.Gly207Ser|882/1100|619/837|207/278||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|4/5|c.541G>A|p.Gly181Ser|671/1279|541/795|181/264||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|6/7|c.523G>A|p.Gly175Ser|909/1425|523/777|175/258||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|4/5|c.400G>A|p.Gly134Ser|617/1066|400/654|134/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|6/7|c.739G>A|p.Gly247Ser|1029/1304|739/993|247/330||,A|downstream_gene_variant|MODIFIER|RP3-370M22.8|ENSG00000225528|transcript|ENST00000424496|sense_intronic||n.*1287G>A|||||4776|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||3350|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764G>A|||||763|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|1/2|n.85G>A||||||
22	40366915	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.820C>T|p.Arg274Trp|1083/3893|820/993|274/330||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|7/8|c.700C>T|p.Arg234Trp|963/1100|700/837|234/278||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.622C>T|p.Arg208Trp|752/1279|622/795|208/264||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.604C>T|p.Arg202Trp|990/1425|604/777|202/258||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.481C>T|p.Arg161Trp|698/1066|481/654|161/217||,T|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.820C>T|p.Arg274Trp|1110/1304|820/993|274/330||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.481C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.481C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.820C>T||||||,T|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.820C>T||||||,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583C>T|||||4802|,T|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764C>T|||||2215|,T|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.166C>T||||||
22	40366925	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000344138|protein_coding|8/8|c.830G>A|p.Arg277Gln|1093/3893|830/993|277/330||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000543252|protein_coding|7/8|c.710G>A|p.Arg237Gln|973/1100|710/837|237/278||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000540310|protein_coding|5/5|c.632G>A|p.Arg211Gln|762/1279|632/795|211/264||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000544756|protein_coding|7/7|c.614G>A|p.Arg205Gln|1000/1425|614/777|205/258||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000399090|protein_coding|5/5|c.491G>A|p.Arg164Gln|708/1066|491/654|164/217||,A|missense_variant|MODERATE|GRAP2|ENSG00000100351|transcript|ENST00000407075|protein_coding|7/7|c.830G>A|p.Arg277Gln|1120/1304|830/993|277/330||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|5/5|c.491G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000399090|protein_coding|4/5|c.491G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|7/7|c.830G>A||||||,A|sequence_feature|LOW|GRAP2|ENSG00000100351|domain:SH3_2|ENST00000407075|protein_coding|6/7|c.830G>A||||||,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000478445|processed_transcript||n.*583G>A|||||4812|,A|downstream_gene_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000481263|retained_intron||n.*764G>A|||||2225|,A|non_coding_exon_variant|MODIFIER|GRAP2|ENSG00000100351|transcript|ENST00000460449|retained_intron|2/2|n.176G>A||||||
22	40415266	.	T	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.584T>A|p.Ile195Asn|678/15561|584/1503|195/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.80T>A|p.Ile27Asn|532/1917|80/999|27/332||
22	40415273	.	C	A,T	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.591C>A|p.Asp197Glu|685/15561|591/1503|197/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.87C>A|p.Asp29Glu|539/1917|87/999|29/332||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.591C>T|p.Asp197Asp|685/15561|591/1503|197/500||,T|synonymous_variant|LOW|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.87C>T|p.Asp29Asp|539/1917|87/999|29/332||
22	40415323	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|2/5|c.641C>T|p.Thr214Ile|735/15561|641/1503|214/500||,T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|2/5|c.137C>T|p.Thr46Ile|589/1917|137/999|46/332||
22	40415903	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/5|c.670C>T|p.Arg224Cys|764/15561|670/1503|224/500||,T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/5|c.166C>T|p.Arg56Cys|618/1917|166/999|56/332||
22	40415968	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/5|c.735G>T|p.Arg245Ser|829/15561|735/1503|245/500||,T|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/5|c.231G>T|p.Arg77Ser|683/1917|231/999|77/332||
22	40415988	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|3/5|c.755A>G|p.Asp252Gly|849/15561|755/1503|252/500||,G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|3/5|c.251A>G|p.Asp84Gly|703/1917|251/999|84/332||
22	40417551	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1037G>A|p.Arg346Gln|1131/15561|1037/1503|346/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.533G>A|p.Arg178Gln|985/1917|533/999|178/332||
22	40417571	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1057G>A|p.Gly353Ser|1151/15561|1057/1503|353/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.553G>A|p.Gly185Ser|1005/1917|553/999|185/332||
22	40417604	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1090G>A|p.Gly364Ser|1184/15561|1090/1503|364/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.586G>A|p.Gly196Ser|1038/1917|586/999|196/332||
22	40417800	.	G	C	.	.	ANN=C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1286G>C|p.Arg429Pro|1380/15561|1286/1503|429/500||,C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.782G>C|p.Arg261Pro|1234/1917|782/999|261/332||
22	40417820	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1306A>G|p.Arg436Gly|1400/15561|1306/1503|436/500||,G|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.802A>G|p.Arg268Gly|1254/1917|802/999|268/332||
22	40417851	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1337G>A|p.Arg446Gln|1431/15561|1337/1503|446/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.833G>A|p.Arg278Gln|1285/1917|833/999|278/332||
22	40417943	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1429G>A|p.Glu477Lys|1523/15561|1429/1503|477/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.925G>A|p.Glu309Lys|1377/1917|925/999|309/332||
22	40417964	.	T	C	.	.	ANN=C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|4/5|c.1450T>C|p.Ser484Pro|1544/15561|1450/1503|484/500||,C|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|4/5|c.946T>C|p.Ser316Pro|1398/1917|946/999|316/332||
22	40425535	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000333407|protein_coding|5/5|c.1469G>A|p.Ser490Asn|1563/15561|1469/1503|490/500||,A|missense_variant|MODERATE|FAM83F|ENSG00000133477|transcript|ENST00000473717|protein_coding|5/5|c.965G>A|p.Ser322Asn|1417/1917|965/999|322/332||
22	40657967	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|4/23|c.247G>A|p.Ala83Thr|458/18279|247/5502|83/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/24|c.355G>A|p.Ala119Thr|657/15958|355/3090|119/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/24|c.355G>A|p.Ala119Thr|590/3444|355/3090|119/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|4/21|c.247G>A|p.Ala83Thr|441/17933|247/5172|83/1723||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.247G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.247G>A||||||,A|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3G>A|||||3040|WARNING_TRANSCRIPT_NO_START_CODON
22	40658117	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|4/23|c.397A>G|p.Asn133Asp|608/18279|397/5502|133/1833||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/24|c.505A>G|p.Asn169Asp|807/15958|505/3090|169/1029||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/24|c.505A>G|p.Asn169Asp|740/3444|505/3090|169/1029||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|4/21|c.397A>G|p.Asn133Asp|591/17933|397/5172|133/1723||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.397A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.397A>G||||||,G|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3A>G|||||2890|WARNING_TRANSCRIPT_NO_START_CODON
22	40658145	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|4/23|c.425C>T|p.Ala142Val|636/18279|425/5502|142/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/24|c.533C>T|p.Ala178Val|835/15958|533/3090|178/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/24|c.533C>T|p.Ala178Val|768/3444|533/3090|178/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|4/21|c.425C>T|p.Ala142Val|619/17933|425/5172|142/1723||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.425C>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.425C>T||||||,T|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3C>T|||||2862|WARNING_TRANSCRIPT_NO_START_CODON
22	40660856	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.622A>G|p.Thr208Ala|833/18279|622/5502|208/1833||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.622A>G|p.Thr208Ala|816/17933|622/5172|208/1723||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.622A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.622A>G||||||,G|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.-3A>G|||||151|WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2679A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2679A>G||||||
22	40661112	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.878T>C|p.Ile293Thr|1089/18279|878/5502|293/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.878T>C|p.Ile293Thr|1072/17933|878/5172|293/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.104T>C|p.Ile35Thr|106/4741|104/4173|35/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.878T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.878T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+2935T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+2935T>C||||||
22	40661502	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1268G>T|p.Gly423Val|1479/18279|1268/5502|423/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1268G>T|p.Gly423Val|1462/17933|1268/5172|423/1723||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.494G>T|p.Gly165Val|496/4741|494/4173|165/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1268G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1268G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3325G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3325G>T||||||
22	40661522	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1288G>A|p.Gly430Arg|1499/18279|1288/5502|430/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1288G>A|p.Gly430Arg|1482/17933|1288/5172|430/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.514G>A|p.Gly172Arg|516/4741|514/4173|172/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1288G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1288G>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3345G>A||||||,A|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3345G>A||||||
22	40661729	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1495G>C|p.Gly499Arg|1706/18279|1495/5502|499/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1495G>C|p.Gly499Arg|1689/17933|1495/5172|499/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.721G>C|p.Gly241Arg|723/4741|721/4173|241/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1495G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1495G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3552G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3552G>C||||||
22	40661738	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.1504A>G|p.Met502Val|1715/18279|1504/5502|502/1833||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.1504A>G|p.Met502Val|1698/17933|1504/5172|502/1723||,G|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.730A>G|p.Met244Val|732/4741|730/4173|244/1390||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.1504A>G||||||,G|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.1504A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.565+3561A>G||||||,G|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.565+3561A>G||||||
22	40662585	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2351G>T|p.Gly784Val|2562/18279|2351/5502|784/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2351G>T|p.Gly784Val|2545/17933|2351/5172|784/1723||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1577G>T|p.Gly526Val|1579/4741|1577/4173|526/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2351G>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2351G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3541G>T||||||,T|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3541G>T||||||
22	40662843	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2609A>C|p.Glu870Ala|2820/18279|2609/5502|870/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2609A>C|p.Glu870Ala|2803/17933|2609/5172|870/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1835A>C|p.Glu612Ala|1837/4741|1835/4173|612/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|compositionally_biased_region:Pro-rich|ENST00000454349|protein_coding|5/23|c.2609A>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|compositionally_biased_region:Pro-rich|ENST00000335727|protein_coding|5/21|c.2609A>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3283A>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3283A>C||||||
22	40662984	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|5/23|c.2750G>C|p.Gly917Ala|2961/18279|2750/5502|917/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/21|c.2750G>C|p.Gly917Ala|2944/17933|2750/5172|917/1723||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|1/17|c.1976G>C|p.Gly659Ala|1978/4741|1976/4173|659/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2750G>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2750G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|7/23|c.566-3142G>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|7/23|c.566-3142G>C||||||
22	40666230	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|6/23|c.2911T>C|p.Ser971Pro|3122/18279|2911/5502|971/1833||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|8/24|c.670T>C|p.Ser224Pro|972/15958|670/3090|224/1029||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|8/24|c.670T>C|p.Ser224Pro|905/3444|670/3090|224/1029||,C|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|2/17|c.2137T>C|p.Ser713Pro|2139/4741|2137/4173|713/1390||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|5/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|6/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|4/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|2/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|3/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|7/23|c.2911T>C||||||,C|sequence_feature|LOW|TNRC6B|ENSG00000100354|interacting_region:Interaction_with_argonaute_proteins|ENST00000454349|protein_coding|1/23|c.2911T>C||||||,C|intron_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|5/20|c.2806+3190T>C||||||
22	40669456	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|7/23|c.2993G>A|p.Gly998Glu|3204/18279|2993/5502|998/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|9/24|c.752G>A|p.Gly251Glu|1054/15958|752/3090|251/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|9/24|c.752G>A|p.Gly251Glu|987/3444|752/3090|251/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|6/21|c.2834G>A|p.Gly945Glu|3028/17933|2834/5172|945/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|3/17|c.2219G>A|p.Gly740Glu|2221/4741|2219/4173|740/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.-1G>A|||||3388|
22	40669482	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|7/23|c.3019G>A|p.Ala1007Thr|3230/18279|3019/5502|1007/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|9/24|c.778G>A|p.Ala260Thr|1080/15958|778/3090|260/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|9/24|c.778G>A|p.Ala260Thr|1013/3444|778/3090|260/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|6/21|c.2860G>A|p.Ala954Thr|3054/17933|2860/5172|954/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|3/17|c.2245G>A|p.Ala749Thr|2247/4741|2245/4173|749/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript||n.-1G>A|||||3362|
22	40676092	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|10/23|c.3356G>A|p.Arg1119His|3567/18279|3356/5502|1119/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|12/24|c.1115G>A|p.Arg372His|1417/15958|1115/3090|372/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|12/24|c.1115G>A|p.Arg372His|1350/3444|1115/3090|372/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|9/21|c.3197G>A|p.Arg1066His|3391/17933|3197/5172|1066/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|6/17|c.2582G>A|p.Arg861His|2584/4741|2582/4173|861/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000497559|processed_transcript|4/6|n.357G>A||||||
22	40704537	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|16/23|c.4142A>T|p.Asp1381Val|4353/18279|4142/5502|1381/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|17/24|c.1730A>T|p.Asp577Val|2032/15958|1730/3090|577/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|17/24|c.1730A>T|p.Asp577Val|1965/3444|1730/3090|577/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|14/21|c.3812A>T|p.Asp1271Val|4006/17933|3812/5172|1271/1723||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|11/17|c.3197A>T|p.Asp1066Val|3199/4741|3197/4173|1066/1390||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.4142A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.1730A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.3812A>T||||||,T|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.3812A>T||||||
22	40708601	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|18/23|c.4528G>A|p.Ala1510Thr|4739/18279|4528/5502|1510/1833||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|19/24|c.2116G>A|p.Ala706Thr|2418/15958|2116/3090|706/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|19/24|c.2116G>A|p.Ala706Thr|2351/3444|2116/3090|706/1029||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|16/21|c.4198G>A|p.Ala1400Thr|4392/17933|4198/5172|1400/1723||,A|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding|13/17|c.3583G>A|p.Ala1195Thr|3585/4741|3583/4173|1195/1390||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|21/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|19/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|14/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|22/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|12/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|23/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|13/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|16/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|17/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|20/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|18/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000454349|protein_coding|15/23|c.4528G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|24/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|22/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|20/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|15/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|23/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|13/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|14/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|17/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|18/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|21/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|19/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000402203|protein_coding|16/24|c.2116G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|19/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|17/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|12/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|20/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|10/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|11/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|14/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|21/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|15/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|18/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|16/21|c.4198G>A||||||,A|sequence_feature|LOW|TNRC6B|ENSG00000100354|region_of_interest:Silencing_domain|ENST00000335727|protein_coding|13/21|c.4198G>A||||||
22	40718965	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|23/23|c.5222C>T|p.Ala1741Val|5433/18279|5222/5502|1741/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|24/24|c.2810C>T|p.Ala937Val|3112/15958|2810/3090|937/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|24/24|c.2810C>T|p.Ala937Val|3045/3444|2810/3090|937/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|21/21|c.4892C>T|p.Ala1631Val|5086/17933|4892/5172|1631/1723||,T|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.*4175C>T|||||1162|WARNING_TRANSCRIPT_NO_START_CODON
22	40718974	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000454349|protein_coding|23/23|c.5231C>T|p.Ala1744Val|5442/18279|5231/5502|1744/1833||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000301923|protein_coding|24/24|c.2819C>T|p.Ala940Val|3121/15958|2819/3090|940/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000402203|protein_coding|24/24|c.2819C>T|p.Ala940Val|3054/3444|2819/3090|940/1029||,T|missense_variant|MODERATE|TNRC6B|ENSG00000100354|transcript|ENST00000335727|protein_coding|21/21|c.4901C>T|p.Ala1634Val|5095/17933|4901/5172|1634/1723||,T|downstream_gene_variant|MODIFIER|TNRC6B|ENSG00000100354|transcript|ENST00000446273|protein_coding||c.*4175C>T|||||1171|WARNING_TRANSCRIPT_NO_START_CODON
22	40742567	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|1/13|c.5C>T|p.Ala2Val|36/1620|5/1497|2/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|1/13|c.5C>T|p.Ala2Val|61/1993|5/1455|2/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|1/12|c.5C>T|p.Ala2Val|32/1779|5/1278|2/425||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N-acetylalanine|ENST00000216194|protein_coding|1/13|c.5C>T||||||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N-acetylalanine|ENST00000342312|protein_coding|1/12|c.5C>T||||||,T|TF_binding_site_variant|LOW|||Yy1|MA0095.1|||||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.-1C>T|||||3320|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron|1/2|n.46C>T||||||
22	40750289	.	A	T	.	.	ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|4/13|c.482A>T|p.Lys161Met|513/1620|482/1497|161/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|4/13|c.440A>T|p.Lys147Met|496/1993|440/1455|147/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|4/12|c.440A>T|p.Lys147Met|467/1779|440/1278|147/425||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N6-acetyllysine|ENST00000216194|protein_coding|4/13|c.440A>T||||||,T|sequence_feature|MODERATE|ADSL|ENSG00000239900|amino_acid_modification:N6-acetyllysine|ENST00000342312|protein_coding|4/12|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|3/13|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|2/13|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|4/13|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|3/12|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|2/12|c.440A>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|4/12|c.440A>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.-1A>T|||||4683|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000466863|retained_intron||n.*686A>T|||||3962|,T|intron_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|1/1|n.153+4250A>T||||||
22	40755001	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|5/13|c.658G>T|p.Ala220Ser|689/1620|658/1497|220/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|5/13|c.616G>T|p.Ala206Ser|672/1993|616/1455|206/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|5/12|c.616G>T|p.Ala206Ser|643/1779|616/1278|206/425||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|5/13|c.616G>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|5/12|c.616G>T||||||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|2/2|n.287G>T||||||,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|1/5|n.30G>T||||||
22	40755034	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|5/13|c.691C>G|p.His231Asp|722/1620|691/1497|231/498||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|5/13|c.649C>G|p.His217Asp|705/1993|649/1455|217/484||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|5/12|c.649C>G|p.His217Asp|676/1779|649/1278|217/425||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|5/13|c.649C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|6/13|c.649C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|6/12|c.649C>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|5/12|c.649C>G||||||,G|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron|2/2|n.320C>G||||||,G|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|1/5|n.63C>G||||||
22	40757292	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|8/13|c.850C>T|p.Arg284Cys|881/1620|850/1497|284/498||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|8/13|c.808C>T|p.Arg270Cys|864/1993|808/1455|270/484||,T|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|8/12|c.808C>T|p.Arg270Cys|835/1779|808/1278|270/425||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|8/13|c.808C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|7/13|c.808C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|8/12|c.808C>T||||||,T|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|7/12|c.808C>T||||||,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3C>T|||||3751|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1C>T|||||4037|,T|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592C>T|||||1986|,T|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|4/5|n.407C>T||||||
22	40757509	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|9/13|c.922T>C|p.Tyr308His|953/1620|922/1497|308/498||,C|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|9/13|c.880T>C|p.Tyr294His|936/1993|880/1455|294/484||,C|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|9/12|c.880T>C|p.Tyr294His|907/1779|880/1278|294/425||,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3T>C|||||3534|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1T>C|||||3820|,C|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592T>C|||||2203|,C|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|5/5|n.479T>C||||||
22	40757524	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|9/13|c.937A>G|p.Met313Val|968/1620|937/1497|313/498||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|9/13|c.895A>G|p.Met299Val|951/1993|895/1455|299/484||,G|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|9/12|c.895A>G|p.Met299Val|922/1779|895/1278|299/425||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|9/13|c.895A>G||||||,G|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|9/12|c.895A>G||||||,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3A>G|||||3519|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1A>G|||||3805|,G|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592A>G|||||2218|,G|non_coding_exon_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript|5/5|n.494A>G||||||
22	40760290	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000454266|protein_coding|11/13|c.1154G>A|p.Arg385Gln|1185/1620|1154/1497|385/498||,A|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000216194|protein_coding|11/13|c.1112G>A|p.Arg371Gln|1168/1993|1112/1455|371/484||,A|missense_variant|MODERATE|ADSL|ENSG00000239900|transcript|ENST00000342312|protein_coding|11/12|c.1112G>A|p.Arg371Gln|1139/1779|1112/1278|371/425||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|11/13|c.1112G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000216194|protein_coding|10/13|c.1112G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|11/12|c.1112G>A||||||,A|sequence_feature|LOW|ADSL|ENSG00000239900|helix|ENST00000342312|protein_coding|10/12|c.1112G>A||||||,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000498234|protein_coding||c.-3G>A|||||753|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000423176|retained_intron||n.-1G>A|||||1039|,A|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000477111|retained_intron||n.*592G>A|||||4984|,A|downstream_gene_variant|MODIFIER|ADSL|ENSG00000239900|transcript|ENST00000480775|processed_transcript||n.*564G>A|||||2696|
22	40797647	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|3/22|c.58T>C|p.Trp20Arg|247/2969|58/2250|20/749||,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.-1T>C|||||2470|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1T>C|||||4470|,C|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1T>C|||||4795|,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|2/7|c.-111-496T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|2/17|c.-111-496T>C||||||,C|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|3/20|n.219T>C||||||
22	40798179	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|4/22|c.127G>A|p.Asp43Asn|316/2969|127/2250|43/749||,A|5_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|3/8|c.-75G>A|||||2116|WARNING_TRANSCRIPT_NO_STOP_CODON,A|5_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|3/18|c.-75G>A|||||2116|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.-1G>A|||||1938|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||3938|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||4263|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|4/20|n.288G>A||||||
22	40800320	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.227G>A|p.Arg76Gln|416/2969|227/2250|76/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.26G>A|p.Arg9Gln|353/1086|26/759|9/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.26G>A|p.Arg9Gln|313/2359|26/1791|9/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||1797|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||2122|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2935|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2961|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||3023|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3997|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||4072|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||4311|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||4478|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.388G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.204G>A||||||
22	40800385	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.292G>A|p.Ala98Thr|481/2969|292/2250|98/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.91G>A|p.Ala31Thr|418/1086|91/759|31/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.91G>A|p.Ala31Thr|378/2359|91/1791|31/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||1732|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||2057|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2870|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2896|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||2958|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3932|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||4007|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||4246|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||4413|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.453G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.269G>A||||||
22	40800386	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.293C>T|p.Ala98Val|482/2969|293/2250|98/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.92C>T|p.Ala31Val|419/1086|92/759|31/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.92C>T|p.Ala31Val|379/2359|92/1791|31/596||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1731|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||2056|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2869|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2895|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2957|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3931|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||4006|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||4245|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4412|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.454C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.270C>T||||||
22	40800400	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|5/22|c.307C>T|p.Arg103Cys|496/2969|307/2250|103/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|4/8|c.106C>T|p.Arg36Cys|433/1086|106/759|36/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|4/18|c.106C>T|p.Arg36Cys|393/2359|106/1791|36/596||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1C>T|||||1717|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1C>T|||||2042|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1C>T|||||2855|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1C>T|||||2881|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1C>T|||||2943|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1C>T|||||3917|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||3992|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||4231|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||4398|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|5/20|n.468C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|1/9|n.284C>T||||||
22	40801181	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|7/22|c.511G>A|p.Ala171Thr|700/2969|511/2250|171/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|6/8|c.310G>A|p.Ala104Thr|637/1086|310/759|104/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|6/18|c.310G>A|p.Ala104Thr|597/2359|310/1791|104/596||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.511G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.511G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>A|||||936|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||1261|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||2074|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||2100|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||2162|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||3136|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||3211|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||3450|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||3617|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|7/20|n.672G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|3/9|n.488G>A||||||
22	40801663	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|8/22|c.629G>T|p.Cys210Phe|818/2969|629/2250|210/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|7/8|c.428G>T|p.Cys143Phe|755/1086|428/759|143/252||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|7/18|c.428G>T|p.Cys143Phe|715/2359|428/1791|143/596||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|7/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|6/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|5/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|8/22|c.629G>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:Rab-GAP_TBC|ENST00000248929|protein_coding|9/22|c.629G>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.-1G>T|||||454|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>T|||||779|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>T|||||1592|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>T|||||1618|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>T|||||1680|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>T|||||2654|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>T|||||2729|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>T|||||2968|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>T|||||3135|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>A|||||4622|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>A|||||4623|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>A|||||4631|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>A|||||4643|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|8/20|n.790G>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|4/9|n.606G>T||||||
22	40802189	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|9/22|c.922G>A|p.Val308Met|1111/2969|922/2250|308/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding|8/8|c.721G>A|p.Val241Met|1048/1086|721/759|241/252||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|8/18|c.721G>A|p.Val241Met|1008/2359|721/1791|241/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.-1G>A|||||253|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||1066|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||1092|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||1154|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||2128|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||2203|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2442|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2609|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||4096|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||4097|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||4105|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||4117|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|9/20|n.1083G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|5/9|n.899G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|1/7|n.73G>A||||||
22	40802577	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|10/22|c.1096G>A|p.Val366Met|1285/2969|1096/2250|366/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|9/18|c.895G>A|p.Val299Met|1182/2359|895/1791|299/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.-1G>A|||||678|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.-1G>A|||||704|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.-1G>A|||||766|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||1740|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||1815|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||2054|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||2221|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||3708|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||350|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||3709|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||3717|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||3729|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|10/20|n.1257G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1073G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|2/7|n.247G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|1/6|n.136G>A||||||
22	40803454	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|13/22|c.1406G>A|p.Arg469Gln|1595/2969|1406/2250|469/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|12/18|c.1205G>A|p.Arg402Gln|1492/2359|1205/1791|402/596||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.-1G>A|||||863|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1G>A|||||938|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||1177|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||1344|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||2831|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||1227|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||2832|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||2840|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||2852|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||4389|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|11/20|n.1780G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.1950G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|4/7|n.641G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|3/6|n.575G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron|2/2|n.116G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|1/7|n.174G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|1/4|n.112G>A||||||
22	40804348	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1697C>T|p.Pro566Leu|1886/2969|1697/2250|566/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1496C>T|p.Pro499Leu|1783/2359|1496/1791|499/596||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.32C>T|p.Pro11Leu|32/793|32/639|11/212||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1697C>T||||||,T|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1697C>T||||||,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1C>T|||||44|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1C>T|||||283|,T|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2C>T|||||450|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||1937|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||2121|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||643|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||1938|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||1946|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||1958|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||3495|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2071C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2844C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|7/7|n.932C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.866C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.465C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.623C>T||||||
22	40804356	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1705A>G|p.Lys569Glu|1894/2969|1705/2250|569/749||,G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1504A>G|p.Lys502Glu|1791/2359|1504/1791|502/596||,G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.40A>G|p.Lys14Glu|40/793|40/639|14/212||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1705A>G||||||,G|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1705A>G||||||,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.-1A>G|||||36|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1A>G|||||275|,G|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2A>G|||||442|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387T>C|||||1929|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086A>G|||||2129|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367A>G|||||651|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988T>C|||||1930|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243T>C|||||1938|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003T>C|||||1950|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524T>C|||||3487|,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2079A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2852A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron|7/7|n.940A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.874A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.473A>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.631A>G||||||
22	40804428	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|16/22|c.1777G>A|p.Glu593Lys|1966/2969|1777/2250|593/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding|15/18|c.1576G>A|p.Glu526Lys|1863/2359|1576/1791|526/596||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|1/6|c.112G>A|p.Glu38Lys|112/793|112/639|38/212||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|20/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|18/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|19/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|16/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|21/22|c.1777G>A||||||,A|sequence_feature|LOW|SGSM3|ENSG00000100359|domain:RUN|ENST00000248929|protein_coding|17/22|c.1777G>A||||||,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.-1G>A|||||203|,A|upstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.-2G>A|||||370|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||1857|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||2201|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||15|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||723|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||1858|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||1866|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||1878|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||3415|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|14/20|n.2151G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|6/9|n.2924G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron|6/6|n.946G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron|4/7|n.545G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron|3/4|n.703G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|1/6|n.37G>A||||||
22	40805512	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/22|c.2155C>T|p.Leu719Phe|2344/2969|2155/2250|719/749||,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.490C>T|p.Leu164Phe|490/793|490/639|164/212||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/5|c.211C>T|p.Leu71Phe|212/666|211/306|71/101||,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||773|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3285|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>T|||||205|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||1099|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||1079|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1807|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||392|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||821|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||774|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||782|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||794|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2331|,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/20|n.2529C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3623C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/6|n.646C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.604C>T||||||
22	40805569	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.547C>G|p.Leu183Val|547/793|547/639|183/212||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>C|||||716|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>G|||||3342|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>G|||||262|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>G|||||1156|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>G|||||1136|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>G|||||1864|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>G|||||449|,G|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>G|||||878|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>C|||||717|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>C|||||725|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>C|||||737|,G|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>C|||||2274|,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/21|c.2172+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/19|n.2546+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/5|n.663+40C>G||||||,G|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/4|c.228+40C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3680C>G||||||,G|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.661C>G||||||
22	40805648	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.626C>T|p.Ala209Val|626/793|626/639|209/212||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387G>A|||||637|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086C>T|||||3421|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>T|||||341|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>T|||||1235|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>T|||||1215|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>T|||||1943|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>T|||||528|,T|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>T|||||957|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988G>A|||||638|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243G>A|||||646|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003G>A|||||658|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>A|||||2195|,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|21/21|c.2173-38C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|19/19|n.2547-38C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|5/5|n.664-38C>T||||||,T|intron_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|4/4|c.229-38C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3759C>T||||||,T|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.740C>T||||||
22	40805714	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding|22/22|c.2201G>A|p.Arg734Gln|2390/2969|2201/2250|734/749||,A|missense_variant|MODERATE|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding|5/5|c.257G>A|p.Arg86Gln|258/666|257/306|86/101||,A|3_prime_UTR_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding|6/6|c.*53G>A|||||53|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding||c.*3387C>T|||||571|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000457767|protein_coding||c.*1086G>A|||||3487|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||407|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||1301|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||1281|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||2009|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||594|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||1023|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding||c.*2988C>T|||||572|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding||c.*3243C>T|||||580|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding||c.*3003C>T|||||592|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524C>T|||||2129|,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron|20/20|n.2575G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron|9/9|n.3825G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron|6/6|n.692G>A||||||,A|non_coding_exon_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron|4/4|n.806G>A||||||
22	40807755	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2435G>T|p.Gly812Val|3026/4496|2435/2796|812/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2285G>T|p.Gly762Val|2882/4343|2285/2646|762/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2435G>T|p.Gly812Val|2642/4091|2435/2796|812/931||,A|3_prime_UTR_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.*48G>T|||||48|,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1C>A|||||3252|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439C>A|||||1462|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078C>A|||||2448|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973C>A|||||1643|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218C>A|||||1648|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997C>A|||||3342|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951C>A|||||3322|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367C>A|||||4050|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854C>A|||||2635|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769C>A|||||3064|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639C>A|||||1940|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029C>A|||||1704|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881C>A|||||1966|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307C>A|||||1633|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.*524G>T|||||88|
22	40807902	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|15/15|c.2288C>T|p.Ala763Val|2879/4496|2288/2796|763/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|14/14|c.2138C>T|p.Ala713Val|2735/4343|2138/2646|713/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|12/12|c.2288C>T|p.Ala763Val|2495/4091|2288/2796|763/931||,A|synonymous_variant|LOW|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|15/15|c.2298C>T|p.Ser766Ser|2889/4505|2298/2397|766/798||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2288C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2288C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2288C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2288C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.-1G>A|||||3105|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000248929|protein_coding||c.*2439G>A|||||1609|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000454798|protein_coding||c.*2078G>A|||||2595|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000485962|retained_intron||n.*2973G>A|||||1790|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000478085|retained_intron||n.*4218G>A|||||1795|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000480830|retained_intron||n.*997G>A|||||3489|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481408|retained_intron||n.*951G>A|||||3469|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000481028|retained_intron||n.*367G>A|||||4197|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000470518|retained_intron||n.*854G>A|||||2782|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000467915|retained_intron||n.*769G>A|||||3211|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000427834|protein_coding||c.*639G>A|||||2087|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000469719|retained_intron||n.*1029G>A|||||1851|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000462457|retained_intron||n.*881G>A|||||2113|,A|downstream_gene_variant|MODIFIER|SGSM3|ENSG00000100359|transcript|ENST00000417424|protein_coding||c.*307G>A|||||1780|,A|non_coding_exon_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron|3/3|n.465C>T||||||
22	40814431	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.2011G>A|p.Val671Met|2602/4496|2011/2796|671/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.2011G>A|p.Val671Met|2602/4505|2011/2397|671/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1861G>A|p.Val621Met|2458/4343|1861/2646|621/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.2011G>A|p.Val671Met|2218/4091|2011/2796|671/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.2011G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.2011G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.2011G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.2011G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||693|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||2982|
22	40814500	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1942A>G|p.Ser648Gly|2533/4496|1942/2796|648/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1942A>G|p.Ser648Gly|2533/4505|1942/2397|648/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1792A>G|p.Ser598Gly|2389/4343|1792/2646|598/881||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1942A>G|p.Ser648Gly|2149/4091|1942/2796|648/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1942A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1942A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1942A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1942A>G||||||,C|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1A>G|||||762|,C|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443T>C|||||3051|
22	40814533	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1909G>A|p.Ala637Thr|2500/4496|1909/2796|637/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1909G>A|p.Ala637Thr|2500/4505|1909/2397|637/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1759G>A|p.Ala587Thr|2356/4343|1759/2646|587/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1909G>A|p.Ala637Thr|2116/4091|1909/2796|637/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1909G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1909G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1909G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1909G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||795|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3084|
22	40814542	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1900C>T|p.Pro634Ser|2491/4496|1900/2796|634/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1900C>T|p.Pro634Ser|2491/4505|1900/2397|634/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1750C>T|p.Pro584Ser|2347/4343|1750/2646|584/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1900C>T|p.Pro634Ser|2107/4091|1900/2796|634/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1900C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1900C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1900C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1900C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||804|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3093|
22	40814545	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1897G>A|p.Glu633Lys|2488/4496|1897/2796|633/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1897G>A|p.Glu633Lys|2488/4505|1897/2397|633/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1747G>A|p.Glu583Lys|2344/4343|1747/2646|583/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1897G>A|p.Glu633Lys|2104/4091|1897/2796|633/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1897G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1897G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1897G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1897G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||807|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3096|
22	40814595	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1847C>T|p.Pro616Leu|2438/4496|1847/2796|616/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1847C>T|p.Pro616Leu|2438/4505|1847/2397|616/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1697C>T|p.Pro566Leu|2294/4343|1697/2646|566/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1847C>T|p.Pro616Leu|2054/4091|1847/2796|616/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1847C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1847C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1847C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1847C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||857|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3146|
22	40814662	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1780G>A|p.Ala594Thr|2371/4496|1780/2796|594/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1780G>A|p.Ala594Thr|2371/4505|1780/2397|594/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1630G>A|p.Ala544Thr|2227/4343|1630/2646|544/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1780G>A|p.Ala594Thr|1987/4091|1780/2796|594/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1780G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1780G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1780G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1780G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||924|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3213|
22	40814737	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1705G>A|p.Ala569Thr|2296/4496|1705/2796|569/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1705G>A|p.Ala569Thr|2296/4505|1705/2397|569/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1555G>A|p.Ala519Thr|2152/4343|1555/2646|519/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1705G>A|p.Ala569Thr|1912/4091|1705/2796|569/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1705G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1705G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1705G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1705G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||999|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3288|
22	40814749	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1693G>A|p.Ala565Thr|2284/4496|1693/2796|565/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1693G>A|p.Ala565Thr|2284/4505|1693/2397|565/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1543G>A|p.Ala515Thr|2140/4343|1543/2646|515/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1693G>A|p.Ala565Thr|1900/4091|1693/2796|565/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|11/12|c.1693G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|12/12|c.1693G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|10/12|c.1693G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Pro-rich|ENST00000407029|protein_coding|9/12|c.1693G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1011|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3300|
22	40814899	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1543C>T|p.Arg515Trp|2134/4496|1543/2796|515/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1543C>T|p.Arg515Trp|2134/4505|1543/2397|515/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1393C>T|p.Arg465Trp|1990/4343|1393/2646|465/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1543C>T|p.Arg515Trp|1750/4091|1543/2796|515/931||,A|sequence_feature|LOW|MKL1|ENSG00000196588|coiled-coil_region|ENST00000407029|protein_coding|9/12|c.1543C>T||||||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||1161|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3450|
22	40814988	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1454C>T|p.Thr485Met|2045/4496|1454/2796|485/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1454C>T|p.Thr485Met|2045/4505|1454/2397|485/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1304C>T|p.Thr435Met|1901/4343|1304/2646|435/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1454C>T|p.Thr485Met|1661/4091|1454/2796|485/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||1250|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||3539|
22	40815097	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1345T>C|p.Ser449Pro|1936/4496|1345/2796|449/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1345T>C|p.Ser449Pro|1936/4505|1345/2397|449/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1195T>C|p.Ser399Pro|1792/4343|1195/2646|399/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1345T>C|p.Ser449Pro|1552/4091|1345/2796|449/931||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1T>C|||||1359|,G|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443A>G|||||3648|
22	40815133	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1309G>A|p.Ala437Thr|1900/4496|1309/2796|437/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1309G>A|p.Ala437Thr|1900/4505|1309/2397|437/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1159G>A|p.Ala387Thr|1756/4343|1159/2646|387/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1309G>A|p.Ala437Thr|1516/4091|1309/2796|437/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1395|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3684|
22	40815147	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1295T>C|p.Val432Ala|1886/4496|1295/2796|432/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1295T>C|p.Val432Ala|1886/4505|1295/2397|432/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1145T>C|p.Val382Ala|1742/4343|1145/2646|382/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1295T>C|p.Val432Ala|1502/4091|1295/2796|432/931||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1T>C|||||1409|,G|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443A>G|||||3698|
22	40815190	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1252G>A|p.Gly418Arg|1843/4496|1252/2796|418/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1252G>A|p.Gly418Arg|1843/4505|1252/2397|418/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1102G>A|p.Gly368Arg|1699/4343|1102/2646|368/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1252G>A|p.Gly418Arg|1459/4091|1252/2796|418/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1452|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3741|
22	40815256	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1186G>A|p.Ala396Thr|1777/4496|1186/2796|396/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1186G>A|p.Ala396Thr|1777/4505|1186/2397|396/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.1036G>A|p.Ala346Thr|1633/4343|1036/2646|346/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1186G>A|p.Ala396Thr|1393/4091|1186/2796|396/931||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||1518|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||3807|
22	40815294	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|12/15|c.1148A>G|p.Gln383Arg|1739/4496|1148/2796|383/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|12/15|c.1148A>G|p.Gln383Arg|1739/4505|1148/2397|383/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|11/14|c.998A>G|p.Gln333Arg|1595/4343|998/2646|333/881||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|9/12|c.1148A>G|p.Gln383Arg|1355/4091|1148/2796|383/931||,C|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1A>G|||||1556|,C|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443T>C|||||3845|
22	40816417	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.1045G>A|p.Asp349Asn|1636/4496|1045/2796|349/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.1045G>A|p.Asp349Asn|1636/4505|1045/2397|349/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.895G>A|p.Asp299Asn|1492/4343|895/2646|299/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.1045G>A|p.Asp349Asn|1252/4091|1045/2796|349/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|domain:SAP|ENST00000407029|protein_coding|8/12|c.1045G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|domain:SAP|ENST00000407029|protein_coding|9/12|c.1045G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|turn|ENST00000407029|protein_coding|8/12|c.1045G>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>A|||||2679|,T|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443C>T|||||4968|
22	40816443	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.1019C>T|p.Pro340Leu|1610/4496|1019/2796|340/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.1019C>T|p.Pro340Leu|1610/4505|1019/2397|340/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.869C>T|p.Pro290Leu|1466/4343|869/2646|290/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.1019C>T|p.Pro340Leu|1226/4091|1019/2796|340/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||2705|,A|downstream_gene_variant|MODIFIER|RP5-1042K10.13|ENSG00000272834|transcript|ENST00000609279|antisense||n.*443G>A|||||4994|
22	40816503	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.959C>T|p.Ser320Leu|1550/4496|959/2796|320/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.959C>T|p.Ser320Leu|1550/4505|959/2397|320/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.809C>T|p.Ser270Leu|1406/4343|809/2646|270/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.959C>T|p.Ser320Leu|1166/4091|959/2796|320/931||,A|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>T|||||2765|
22	40816548	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|11/15|c.914C>A|p.Thr305Asn|1505/4496|914/2796|305/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|11/15|c.914C>A|p.Thr305Asn|1505/4505|914/2397|305/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|10/14|c.764C>A|p.Thr255Asn|1361/4343|764/2646|255/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|8/12|c.914C>A|p.Thr305Asn|1121/4091|914/2796|305/931||,T|sequence_feature|MODERATE|MKL1|ENSG00000196588|amino_acid_modification:Phosphothreonine|ENST00000407029|protein_coding|8/12|c.914C>A||||||,T|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1C>A|||||2810|
22	40816889	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/15|c.843G>C|p.Gln281His|1434/4496|843/2796|281/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/15|c.843G>C|p.Gln281His|1434/4505|843/2397|281/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/14|c.693G>C|p.Gln231His|1290/4343|693/2646|231/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/12|c.843G>C|p.Gln281His|1050/4091|843/2796|281/931||,G|sequence_feature|LOW|MKL1|ENSG00000196588|compositionally_biased_region:Gln-rich|ENST00000407029|protein_coding|7/12|c.843G>C||||||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1G>C|||||3151|
22	40816960	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|10/15|c.772T>C|p.Ser258Pro|1363/4496|772/2796|258/931||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|10/15|c.772T>C|p.Ser258Pro|1363/4505|772/2397|258/798||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|9/14|c.622T>C|p.Ser208Pro|1219/4343|622/2646|208/881||,G|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|7/12|c.772T>C|p.Ser258Pro|979/4091|772/2796|258/931||,G|upstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000477468|retained_intron||n.-1T>C|||||3222|
22	40819551	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/15|c.616A>G|p.Thr206Ala|1207/4496|616/2796|206/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/15|c.616A>G|p.Thr206Ala|1207/4505|616/2397|206/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/12|c.616A>G|p.Thr206Ala|823/4091|616/2796|206/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.616A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.616A>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+659A>G||||||
22	40819629	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/15|c.538C>G|p.Pro180Ala|1129/4496|538/2796|180/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/15|c.538C>G|p.Pro180Ala|1129/4505|538/2397|180/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/12|c.538C>G|p.Pro180Ala|745/4091|538/2796|180/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.538C>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.538C>G||||||,C|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+581C>G||||||
22	40819664	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|9/15|c.503G>A|p.Arg168Gln|1094/4496|503/2796|168/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|9/15|c.503G>A|p.Arg168Gln|1094/4505|503/2397|168/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|6/12|c.503G>A|p.Arg168Gln|710/4091|503/2796|168/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.503G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.503G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/13|c.477+546G>A||||||
22	40820236	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/15|c.451A>G|p.Ser151Gly|1042/4496|451/2796|151/931||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/15|c.451A>G|p.Ser151Gly|1042/4505|451/2397|151/798||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/14|c.451A>G|p.Ser151Gly|1048/4343|451/2646|151/881||,C|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/12|c.451A>G|p.Ser151Gly|658/4091|451/2796|151/931||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.451A>G||||||,C|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.451A>G||||||
22	40820248	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|8/15|c.439G>A|p.Glu147Lys|1030/4496|439/2796|147/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|8/15|c.439G>A|p.Glu147Lys|1030/4505|439/2397|147/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|8/14|c.439G>A|p.Glu147Lys|1036/4343|439/2646|147/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|5/12|c.439G>A|p.Glu147Lys|646/4091|439/2796|147/931||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.439G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.439G>A||||||
22	40825561	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|4/4|c.350G>A|p.Arg117Lys|541/747|350/486|117/161||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.301+49G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.301+49G>A||||||,T|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1C>T|||||3579|,T|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569G>A|||||1848|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|7/14|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|7/14|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|7/13|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|4/11|c.301+49G>A||||||
22	40825765	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|7/15|c.146C>T|p.Ser49Leu|737/4496|146/2796|49/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|7/15|c.146C>T|p.Ser49Leu|737/4505|146/2397|49/798||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|7/14|c.146C>T|p.Ser49Leu|743/4343|146/2646|49/881||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|4/12|c.146C>T|p.Ser49Leu|353/4091|146/2796|49/931||,A|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|4/4|c.146C>T|p.Ser49Leu|337/747|146/486|49/161||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|3/12|c.146C>T||||||,A|sequence_feature|LOW|MKL1|ENSG00000196588|repeat:RPEL_1|ENST00000407029|protein_coding|4/12|c.146C>T||||||,A|upstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.-1G>A|||||3375|,A|downstream_gene_variant|MODIFIER|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding||c.*569C>T|||||1644|WARNING_TRANSCRIPT_INCOMPLETE
22	40831541	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000355630|protein_coding|5/15|c.25G>A|p.Ala9Thr|616/4496|25/2796|9/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000396617|protein_coding|5/15|c.25G>A|p.Ala9Thr|616/4505|25/2397|9/798||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402042|protein_coding|5/14|c.25G>A|p.Ala9Thr|622/4343|25/2646|9/881||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000407029|protein_coding|2/12|c.25G>A|p.Ala9Thr|232/4091|25/2796|9/931||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000402630|protein_coding|2/4|c.25G>A|p.Ala9Thr|216/747|25/486|9/161||,T|missense_variant|MODERATE|MKL1|ENSG00000196588|transcript|ENST00000422851|protein_coding|4/5|c.106G>A|p.Ala36Thr|455/569|106/220|36/72||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|3/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|5/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|2/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|4/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|7/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|6/12|c.25G>A||||||,T|sequence_feature|LOW|MKL1|ENSG00000196588|region_of_interest:Mediates_interaction_with_SCAI_and_ACTB|ENST00000407029|protein_coding|1/12|c.25G>A||||||,T|downstream_gene_variant|MODIFIER|RP5-1042K10.12|ENSG00000227413|transcript|ENST00000442557|processed_pseudogene||n.*355C>T|||||1896|
22	41075523	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.74C>T|p.Thr25Met|770/2851|74/1269|25/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.74C>T|p.Thr25Met|247/1219|74/891|25/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.74C>T||||||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.74C>T||||||,T|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1C>T|||||588|,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+115C>T||||||
22	41075532	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.83A>T|p.Asp28Val|779/2851|83/1269|28/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.83A>T|p.Asp28Val|256/1219|83/891|28/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.83A>T||||||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.83A>T||||||,T|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1A>T|||||579|,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+124A>T||||||
22	41075543	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|1/2|c.94A>G|p.Asn32Asp|790/2851|94/1269|32/422||,G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|1/3|c.94A>G|p.Asn32Asp|267/1219|94/891|32/296||,G|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.94A>G||||||,G|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.94A>G||||||,G|upstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.-1A>G|||||568|,G|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|1/1|n.132+135A>G||||||
22	41076970	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.307G>A|p.Gly103Arg|1003/2851|307/1269|103/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/3|c.307G>A|p.Gly103Arg|480/1219|307/891|103/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|2/2|c.307G>A||||||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Extracellular|ENST00000249016|protein_coding|1/2|c.307G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.150G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.128G>A||||||
22	41077024	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.361C>T|p.Leu121Phe|1057/2851|361/1269|121/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/3|c.361C>T|p.Leu121Phe|534/1219|361/891|121/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.361C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.204C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.182C>T||||||
22	41077282	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.619G>A|p.Ala207Thr|1315/2851|619/1269|207/422||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.619G>A||||||,A|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.465+154G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.462G>A||||||,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.440G>A||||||
22	41077283	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.620C>T|p.Ala207Val|1316/2851|620/1269|207/422||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.620C>T||||||,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.465+155C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.463C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.441C>T||||||
22	41077343	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.680C>T|p.Ser227Phe|1376/2851|680/1269|227/422||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.680C>T||||||,T|intron_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|2/2|c.466-164C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.523C>T||||||,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript|2/2|n.501C>T||||||
22	41077547	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.884C>T|p.Ala295Val|1580/2851|884/1269|295/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.506C>T|p.Ala169Val|679/1219|506/891|169/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.884C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||131|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.727C>T||||||
22	41077549	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.886G>A|p.Ala296Thr|1582/2851|886/1269|296/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.508G>A|p.Ala170Thr|681/1219|508/891|170/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.886G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||133|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.729G>A||||||
22	41077612	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.949C>T|p.Arg317Trp|1645/2851|949/1269|317/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.571C>T|p.Arg191Trp|744/1219|571/891|191/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.949C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||196|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.792C>T||||||
22	41077613	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.950G>A|p.Arg317Gln|1646/2851|950/1269|317/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.572G>A|p.Arg191Gln|745/1219|572/891|191/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.950G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||197|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.793G>A||||||
22	41077804	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1141A>G|p.Ile381Val|1837/2851|1141/1269|381/422||,G|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.763A>G|p.Ile255Val|936/1219|763/891|255/296||,G|sequence_feature|LOW|MCHR1|ENSG00000128285|transmembrane_region:Transmembrane_region|ENST00000249016|protein_coding|2/2|c.1141A>G||||||,G|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574A>G|||||388|,G|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.984A>G||||||
22	41077832	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1169G>A|p.Arg390His|1865/2851|1169/1269|390/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.791G>A|p.Arg264His|964/1219|791/891|264/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1169G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||416|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1012G>A||||||
22	41077864	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1201G>A|p.Gly401Arg|1897/2851|1201/1269|401/422||,A|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.823G>A|p.Gly275Arg|996/1219|823/891|275/296||,A|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1201G>A||||||,A|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574G>A|||||448|,A|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1044G>A||||||
22	41077873	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1210C>T|p.Arg404Cys|1906/2851|1210/1269|404/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.832C>T|p.Arg278Cys|1005/1219|832/891|278/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1210C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||457|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1053C>T||||||
22	41077895	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000249016|protein_coding|2/2|c.1232C>T|p.Thr411Met|1928/2851|1232/1269|411/422||,T|missense_variant|MODERATE|MCHR1|ENSG00000128285|transcript|ENST00000381433|protein_coding|3/3|c.854C>T|p.Thr285Met|1027/1219|854/891|285/296||,T|sequence_feature|LOW|MCHR1|ENSG00000128285|topological_domain:Cytoplasmic|ENST00000249016|protein_coding|2/2|c.1232C>T||||||,T|downstream_gene_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000465662|processed_transcript||n.*574C>T|||||479|,T|non_coding_exon_variant|MODIFIER|MCHR1|ENSG00000128285|transcript|ENST00000498400|processed_transcript|2/2|n.1075C>T||||||
22	41166855	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|9/9|c.907C>T|p.Arg303Cys|1041/2262|907/924|303/307||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|5/5|c.661C>T|p.Arg221Cys|1642/2405|661/678|221/225||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|10/10|c.796C>T|p.Arg266Cys|1021/1505|796/813|266/270||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|7/7|c.688C>T|p.Arg230Cys|727/777|688/705|230/234||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|9/9|c.907C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|8/9|c.907C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|9/9|c.907C>T||||||,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|8/8|n.*563C>T|||||8265|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|7/7|n.*647C>T|||||21748|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay||n.*798C>T|||||44|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay||n.*218C>T|||||3086|,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|8/8|n.*563C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|11/11|n.1309C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|7/7|n.*647C>T||||||
22	41169950	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|8/9|c.767A>G|p.Gln256Arg|901/2262|767/924|256/307||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|4/5|c.521A>G|p.Gln174Arg|1502/2405|521/678|174/225||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|9/10|c.656A>G|p.Gln219Arg|881/1505|656/813|219/270||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|6/7|c.548A>G|p.Gln183Arg|587/777|548/705|183/234||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|8/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|9/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|7/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|8/9|c.767A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|9/9|c.767A>G||||||,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*423A>G|||||5170|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*507A>G|||||18653|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*166A>G|||||2336|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*507A>G|||||18653|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay||n.*290A>G|||||3114|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289A>G|||||3282|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270A>G|||||3353|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288A>G|||||3392|,C|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531A>G|||||3414|,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*423A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|10/11|n.1169A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*507A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*166A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*507A>G||||||
22	41169975	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|8/9|c.742C>T|p.Arg248Trp|876/2262|742/924|248/307||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|4/5|c.496C>T|p.Arg166Trp|1477/2405|496/678|166/225||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|9/10|c.631C>T|p.Arg211Trp|856/1505|631/813|211/270||,A|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|6/7|c.523C>T|p.Arg175Trp|562/777|523/705|175/234||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|8/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|9/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|7/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|8/9|c.742C>T||||||,A|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Lumenal|ENST00000435456|protein_coding|9/9|c.742C>T||||||,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*398C>T|||||5145|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*482C>T|||||18628|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*141C>T|||||2311|,A|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*482C>T|||||18628|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay||n.*290C>T|||||3089|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289C>T|||||3257|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270C>T|||||3328|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288C>T|||||3367|,A|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531C>T|||||3389|,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|7/8|n.*398C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|10/11|n.1144C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|6/7|n.*482C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|9/10|n.*141C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|7/7|n.*482C>T||||||
22	41173106	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|7/9|c.631G>A|p.Val211Ile|765/2262|631/924|211/307||,T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000402844|protein_coding|3/5|c.385G>A|p.Val129Ile|1366/2405|385/678|129/225||,T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|8/10|c.520G>A|p.Val174Ile|745/1505|520/813|174/270||,T|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|5/7|c.412G>A|p.Val138Ile|451/777|412/705|138/234||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|7/9|c.631G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|8/9|c.631G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|repeat:Solcar_3|ENST00000435456|protein_coding|9/9|c.631G>A||||||,T|sequence_feature|LOW|SLC25A17|ENSG00000100372|transmembrane_region:Transmembrane_region|ENST00000435456|protein_coding|7/9|c.631G>A||||||,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|6/8|n.*287G>A|||||2014|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|5/7|n.*371G>A|||||15497|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|6/7|n.*371G>A|||||15497|,T|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|7/7|n.*417G>A|||||15543|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay||n.*289G>A|||||126|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay||n.*270G>A|||||197|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay||n.*288G>A|||||236|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay||n.*531G>A|||||258|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay||n.*227G>A|||||1932|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000478550|processed_transcript||n.*562G>A|||||1960|,T|downstream_gene_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay||n.*236G>A|||||1976|,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|6/8|n.*287G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|9/11|n.1033G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|5/7|n.*371G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|7/10|n.631G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|6/7|n.*371G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|7/7|n.*417G>A||||||
22	41188570	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000435456|protein_coding|4/9|c.293A>G|p.His98Arg|427/2262|293/924|98/307||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000544408|protein_coding|5/10|c.182A>G|p.His61Arg|407/1505|182/813|61/270||,C|missense_variant|MODERATE|SLC25A17|ENSG00000100372|transcript|ENST00000434185|protein_coding|5/5|c.242A>G|p.His81Arg|531/565|242/276|81/91||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|1/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|3/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|2/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|5/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|region_of_interest:Necessary_for_targeting_to_peroxisomes_and_interaction_with_PEX19|ENST00000435456|protein_coding|4/9|c.293A>G||||||,C|sequence_feature|LOW|SLC25A17|ENSG00000100372|topological_domain:Cytoplasmic|ENST00000435456|protein_coding|4/9|c.293A>G||||||,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|2/7|n.*33A>G|||||33|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|3/7|n.*33A>G|||||33|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|4/7|n.*79A>G|||||79|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|5/7|n.*208A>G|||||4748|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|4/6|n.*90A>G|||||4748|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|3/5|n.*79A>G|||||79|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|5/6|n.*238A>G|||||4748|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|5/6|n.*208A>G|||||4748|,C|upstream_gene_variant|MODIFIER|RP3-408N23.4|ENSG00000230769|transcript|ENST00000424746|processed_pseudogene||n.-1A>G|||||3299|,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000263255|nonsense_mediated_decay|3/7|n.182+1948A>G||||||,C|intron_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000542412|protein_coding|2/6|c.115+6457A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000491545|processed_transcript|5/11|n.558A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000447566|nonsense_mediated_decay|2/7|n.*33A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000420970|nonsense_mediated_decay|4/10|n.293A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000430221|nonsense_mediated_decay|3/7|n.*33A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000427084|nonsense_mediated_decay|4/7|n.*79A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000458600|nonsense_mediated_decay|5/7|n.*208A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000443810|nonsense_mediated_decay|4/6|n.*90A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000412879|nonsense_mediated_decay|3/5|n.*79A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000426396|nonsense_mediated_decay|4/7|n.293A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000434193|nonsense_mediated_decay|5/6|n.*238A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|ENSG00000100372|transcript|ENST00000449676|nonsense_mediated_decay|5/6|n.*208A>G||||||
22	41223190	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|11/12|c.891G>A|p.Met297Ile|1373/3595|891/1110|297/369||,T|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|10/12|c.891G>A||||||,T|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|11/12|c.891G>A||||||,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193G>A|||||35|,T|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439G>A|||||3689|,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|4/4|n.556G>A||||||
22	41223206	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|11/12|c.875A>G|p.Asn292Ser|1357/3595|875/1110|292/369||,C|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|10/12|c.875A>G||||||,C|sequence_feature|LOW|ST13|ENSG00000100380|compositionally_biased_region:Gly/Met/Pro-rich|ENST00000216218|protein_coding|11/12|c.875A>G||||||,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.*193A>G|||||19|,C|downstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.*439A>G|||||3673|,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|4/4|n.540A>G||||||
22	41231826	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|6/12|c.448T>G|p.Leu150Val|930/3595|448/1110|150/369||,C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|6/8|c.337T>G|p.Leu113Val|399/549|337/487|113/161||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|ST13|ENSG00000100380|repeat:TPR_2|ENST00000216218|protein_coding|6/12|c.448T>G||||||,C|sequence_feature|LOW|ST13|ENSG00000100380|repeat:TPR_2|ENST00000216218|protein_coding|7/12|c.448T>G||||||,C|3_prime_UTR_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|4/9|n.*197T>G|||||9081|,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000480048|retained_intron|1/4|n.84T>G||||||,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|4/9|n.*197T>G||||||,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay|3/7|n.184T>G||||||,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000495652|retained_intron|1/2|n.128T>G||||||
22	41240909	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|4/12|c.249T>G|p.Ile83Met|731/3595|249/1110|83/369||,C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|4/8|c.138T>G|p.Ile46Met|200/549|138/487|46/161||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000413424|nonsense_mediated_decay||n.-2T>G|||||15|,C|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|2/9|n.115T>G||||||
22	41246855	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|2/12|c.140A>G|p.Gln47Arg|622/3595|140/1110|47/369||,C|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding|2/8|c.29A>G|p.Gln10Arg|91/549|29/487|10/161||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/8|n.110+5580A>G||||||
22	41252523	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding|1/12|c.22G>A|p.Glu8Lys|504/3595|22/1110|8/369||,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding||c.-85C>T|||||579|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000411695|protein_coding||c.-63G>A|||||1921|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron||n.-1C>T|||||558|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.-99C>T|||||565|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding||c.-93C>T|||||571|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript||n.-1C>T|||||578|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay||n.-52C>T|||||612|,T|downstream_gene_variant|MODIFIER|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding||c.*1062G>A|||||3030|,T|non_coding_exon_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay|1/9|n.22G>A||||||
22	41257393	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.606G>T|p.Lys202Asn|738/2578|606/930|202/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>T|||||4367|,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>T|||||4773|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>A|||||876|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>A|||||877|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-229C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4144C>A||||||
22	41257440	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.559G>C|p.Val187Leu|691/2578|559/930|187/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>C|||||4414|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>C|||||4820|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>G|||||829|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>G|||||830|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-182C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4191C>G||||||
22	41257470	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.529G>C|p.Asp177His|661/2578|529/930|177/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>C|||||4444|,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>C|||||4850|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>G|||||799|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>G|||||800|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-152C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4221C>G||||||
22	41257503	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.496G>A|p.Glu166Lys|628/2578|496/930|166/309||,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>A|||||4477|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77G>A|||||4883|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>T|||||766|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>T|||||767|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-119C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4254C>T||||||
22	41257566	.	G	T	.	.	ANN=T|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.433C>A|p.Pro145Thr|565/2578|433/930|145/309||,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>A|||||4540|,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000455824|nonsense_mediated_decay||n.-77C>A|||||4946|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>T|||||703|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>T|||||704|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|2/2|n.266-56G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4317G>T||||||
22	41257628	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.371G>T|p.Gly124Val|503/2578|371/930|124/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>T|||||4602|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>A|||||641|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>A|||||642|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4379C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4379C>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.272C>A||||||
22	41257631	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.368C>T|p.Pro123Leu|500/2578|368/930|123/309||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>T|||||4605|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>A|||||638|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>A|||||639|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4382G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4382G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.275G>A||||||
22	41257739	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.260G>C|p.Gly87Ala|392/2578|260/930|87/309||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483G>C|||||4713|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421C>G|||||530|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1C>G|||||531|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4490C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4490C>G||||||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.383C>G||||||
22	41257802	.	T	C	.	.	ANN=C|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.197A>G|p.Asp66Gly|329/2578|197/930|66/309||,C|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.197A>G||||||,C|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483A>G|||||4776|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421T>C|||||467|,C|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1T>C|||||468|,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4553T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4553T>C||||||,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.446T>C||||||
22	41257815	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.184C>T|p.Arg62Trp|316/2578|184/930|62/309||,A|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.184C>T||||||,A|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>T|||||4789|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>A|||||454|,A|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>A|||||455|,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4566G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4566G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.459G>A||||||
22	41257877	.	T	G	.	.	ANN=G|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.122A>C|p.Glu41Ala|254/2578|122/930|41/309||,G|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.122A>C||||||,G|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483A>C|||||4851|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421T>G|||||392|,G|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1T>G|||||393|,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4628T>G||||||,G|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4628T>G||||||,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.521T>G||||||
22	41257977	.	G	T	.	.	ANN=T|missense_variant|MODERATE|DNAJB7|ENSG00000172404|transcript|ENST00000307221|protein_coding|1/1|c.22C>A|p.Leu8Ile|154/2578|22/930|8/309||,T|sequence_feature|LOW|DNAJB7|ENSG00000172404|domain:J|ENST00000307221|protein_coding|1/1|c.22C>A||||||,T|upstream_gene_variant|MODIFIER|ST13|ENSG00000100380|transcript|ENST00000216218|protein_coding||c.-483C>A|||||4951|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding||c.-421G>T|||||292|,T|upstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript||n.-1G>T|||||293|,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|1/9|c.64+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|1/2|n.169+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|1/6|c.64+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|1/4|c.64+4728G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|1/10|n.64+4728G>T||||||,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000482652|processed_transcript|3/3|n.621G>T||||||
22	41265054	.	G	A	.	.	ANN=A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|2/10|c.116G>A|p.Arg39Lys|200/7988|116/1524|39/507||,A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|2/7|c.116G>A|p.Arg39Lys|214/1042|116/867|39/288||,A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000414396|protein_coding|2/5|c.116G>A|p.Arg39Lys|208/929|116/837|39/278||,A|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|2/14|c.47G>A|p.Arg16Lys|467/2249|47/1455|16/484||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000417688|retained_intron|2/3|n.221G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|2/11|n.116G>A||||||,A|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000465258|processed_transcript|2/3|n.466G>A||||||
22	41303615	.	A	G	.	.	ANN=G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|5/10|c.817A>G|p.Ser273Gly|901/7988|817/1524|273/507||,G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|5/14|c.748A>G|p.Ser250Gly|1168/2249|748/1455|250/484||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding|6/7|c.*15A>G|||||15|,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/11|n.*699A>G|||||37535|,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|6/11|n.*699A>G||||||
22	41305166	.	C	T	.	.	ANN=T|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|6/10|c.896C>T|p.Ala299Val|980/7988|896/1524|299/507||,T|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|6/14|c.827C>T|p.Ala276Val|1247/2249|827/1455|276/484||,T|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|7/11|n.*778C>T|||||39086|,T|downstream_gene_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000541156|protein_coding||c.*965C>T|||||17|,T|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|7/11|n.*778C>T||||||
22	41318366	.	A	C	.	.	ANN=C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|8/10|c.1085A>C|p.Glu362Ala|1169/7988|1085/1524|362/507||,C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|8/14|c.1016A>C|p.Glu339Ala|1436/2249|1016/1455|339/484||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|9/11|n.*967A>C|||||52286|,C|downstream_gene_variant|MODIFIER|RNU6-379P|ENSG00000200683|transcript|ENST00000363813|snRNA||n.*104A>C|||||4516|,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|9/11|n.*967A>C||||||
22	41320390	.	C	G	.	.	ANN=G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|9/10|c.1261C>G|p.His421Asp|1345/7988|1261/1524|421/507||,G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|9/14|c.1192C>G|p.His398Asp|1612/2249|1192/1455|398/484||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|10/11|n.*1143C>G|||||54310|,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|10/11|n.*1143C>G||||||
22	41322392	.	C	G	.	.	ANN=G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|10/10|c.1477C>G|p.Pro493Ala|1561/7988|1477/1524|493/507||,G|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/14|c.1408C>G|p.Pro470Ala|1828/2249|1408/1455|470/484||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1359C>G|||||56312|,G|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1359C>G||||||
22	41322422	.	T	C	.	.	ANN=C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000357137|protein_coding|10/10|c.1507T>C|p.Cys503Arg|1591/7988|1507/1524|503/507||,C|missense_variant|MODERATE|XPNPEP3|ENSG00000196236|transcript|ENST00000544094|protein_coding|10/14|c.1438T>C|p.Cys480Arg|1858/2249|1438/1455|480/484||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1389T>C|||||56342|,C|non_coding_exon_variant|MODIFIER|XPNPEP3|ENSG00000196236|transcript|ENST00000428799|nonsense_mediated_decay|11/11|n.*1389T>C||||||
22	41513199	.	T	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.103T>G|p.Ser35Ala|1322/9585|103/7245|35/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.103T>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.103T>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.103T>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.103T>G||||||
22	41513412	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.316A>G|p.Ser106Gly|1535/9585|316/7245|106/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.316A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.316A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.316A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.316A>G||||||
22	41513472	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.376A>G|p.Met126Val|1595/9585|376/7245|126/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|2/31|c.376A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_ALX1|ENST00000263253|protein_coding|1/31|c.376A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|2/31|c.376A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_RORA|ENST00000263253|protein_coding|1/31|c.376A>G||||||
22	41513727	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.631G>A|p.Gly211Ser|1850/9585|631/7245|211/2414||
22	41513746	.	A	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|2/31|c.650A>C|p.Asn217Thr|1869/9585|650/7245|217/2414||
22	41521877	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|3/31|c.739A>G|p.Met247Val|1958/9585|739/7245|247/2414||
22	41522003	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|3/31|c.865A>G|p.Met289Val|2084/9585|865/7245|289/2414||
22	41527628	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|6/31|c.1519A>G|p.Ser507Gly|2738/9585|1519/7245|507/2414||
22	41533761	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|8/31|c.1727C>A|p.Thr576Asn|2946/9585|1727/7245|576/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|9/31|c.1727C>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|10/31|c.1727C>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|domain:KIX|ENST00000263253|protein_coding|8/31|c.1727C>A||||||
22	41542772	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/31|c.2083C>T|p.Arg695Cys|3302/9585|2083/7245|695/2414||
22	41542780	.	T	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|11/31|c.2091T>G|p.Ser697Arg|3310/9585|2091/7245|697/2414||
22	41545919	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2534C>G|p.Thr845Ser|3753/9585|2534/7245|845/2414||
22	41545957	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2572A>G|p.Thr858Ala|3791/9585|2572/7245|858/2414||
22	41545961	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2576T>C|p.Ile859Thr|3795/9585|2576/7245|859/2414||
22	41546056	.	A	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2671A>C|p.Thr891Pro|3890/9585|2671/7245|891/2414||
22	41546131	.	T	A	.	.	ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2746T>A|p.Ser916Thr|3965/9585|2746/7245|916/2414||
22	41546158	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|14/31|c.2773C>A|p.Pro925Thr|3992/9585|2773/7245|925/2414||
22	41547873	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2854T>C|p.Ser952Pro|4073/9585|2854/7245|952/2414||
22	41548008	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|15/31|c.2989A>G|p.Ile997Val|4208/9585|2989/7245|997/2414||
22	41562640	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|23/31|c.3844A>G|p.Thr1282Ala|5063/9585|3844/7245|1282/2414||,G|upstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.-1A>G|||||1581|,G|downstream_gene_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense||n.*357T>C|||||2554|
22	41566522	.	T	A	.	.	ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|27/31|c.4399T>A|p.Tyr1467Asn|5618/9585|4399/7245|1467/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|helix|ENST00000263253|protein_coding|27/31|c.4399T>A||||||,A|downstream_gene_variant|MODIFIER|RNU6-375P|ENSG00000252859|transcript|ENST00000517050|snRNA||n.*100T>A|||||2202|,A|downstream_gene_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense||n.*457A>T|||||4073|,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-937A>T||||||
22	41572269	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|30/31|c.4798C>G|p.Leu1600Val|6017/9585|4798/7245|1600/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.4798C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.4798C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.4798C>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|beta_strand|ENST00000263253|protein_coding|30/31|c.4798C>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.83-6684G>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1441G>C||||||
22	41572792	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5077A>G|p.Ile1693Val|6296/9585|5077/7245|1693/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|31/31|c.5077A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|zinc_finger_region:ZZ-type|ENST00000263253|protein_coding|30/31|c.5077A>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6275T>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-1964T>C||||||
22	41572862	.	G	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5147G>C|p.Ser1716Thr|6366/9585|5147/7245|1716/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|31/31|c.5147G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|29/31|c.5147G>C||||||,C|sequence_feature|LOW|EP300|ENSG00000100393|region_of_interest:Binding_region_for_E1A_adenovirus|ENST00000263253|protein_coding|30/31|c.5147G>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+6205C>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2034C>G||||||
22	41573384	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5669C>G|p.Thr1890Ser|6888/9585|5669/7245|1890/2414||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5683G>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2556G>C||||||
22	41573440	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5725A>G|p.Thr1909Ala|6944/9585|5725/7245|1909/2414||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5627T>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2612T>C||||||
22	41573672	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.5957C>T|p.Pro1986Leu|7176/9585|5957/7245|1986/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5395G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2844G>A||||||
22	41573798	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6083C>T|p.Ala2028Val|7302/9585|6083/7245|2028/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6083C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5269G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2970G>A||||||
22	41573806	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6091C>T|p.Pro2031Ser|7310/9585|6091/7245|2031/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6091C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5261G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2978G>A||||||
22	41573809	.	G	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6094G>C|p.Gly2032Arg|7313/9585|6094/7245|2032/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6094G>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5258C>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-2981C>G||||||
22	41573977	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6262C>T|p.Arg2088Trp|7481/9585|6262/7245|2088/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6262C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6262C>T||||||,T|sequence_feature|LOW|EP300|ENSG00000100393|site:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6262C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+5090G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3149G>A||||||
22	41574105	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6390G>A|p.Met2130Ile|7609/9585|6390/7245|2130/2414||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6390G>A||||||,A|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6390G>A||||||,A|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4962C>T||||||,A|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3277C>T||||||
22	41574196	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6481A>G|p.Met2161Val|7700/9585|6481/7245|2161/2414||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_HTLV-1_Tax|ENST00000263253|protein_coding|31/31|c.6481A>G||||||,G|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6481A>G||||||,G|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4871T>C||||||,G|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3368T>C||||||
22	41574356	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6641C>T|p.Pro2214Leu|7860/9585|6641/7245|2214/2414||,T|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6641C>T||||||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4711G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3528G>A||||||
22	41574383	.	A	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6668A>C|p.Gln2223Pro|7887/9585|6668/7245|2223/2414||,C|sequence_feature|LOW|EP300|ENSG00000100393|interacting_region:Interaction_with_NCOA2|ENST00000263253|protein_coding|31/31|c.6668A>C||||||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4684T>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3555T>G||||||
22	41574685	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6970C>T|p.His2324Tyr|8189/9585|6970/7245|2324/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4382G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3857G>A||||||
22	41574697	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.6982T>C|p.Ser2328Pro|8201/9585|6982/7245|2328/2414||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4370A>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3869A>G||||||
22	41574730	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.7015C>T|p.His2339Tyr|8234/9585|7015/7245|2339/2414||,T|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4337G>A||||||,T|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-3902G>A||||||
22	41574932	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EP300|ENSG00000100393|transcript|ENST00000263253|protein_coding|31/31|c.7217T>C|p.Leu2406Pro|8436/9585|7217/7245|2406/2414||,C|intron_variant|MODIFIER|RP1-85F18.6|ENSG00000232754|transcript|ENST00000415054|antisense|1/2|n.82+4135A>G||||||,C|intron_variant|MODIFIER|RP1-85F18.5|ENSG00000231993|transcript|ENST00000420537|antisense|2/2|n.224-4104A>G||||||
22	41601385	.	A	G	.	.	ANN=G|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|1/17|c.19A>G|p.Ile7Val|177/3296|19/2118|7/705||,G|upstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.-2A>G|||||4315|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.-1A>G|||||4315|,G|downstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.*2500T>C|||||3741|,G|downstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.*780T>C|||||4301|,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|1/14|n.100A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|1/6|n.80A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|1/16|n.73A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|1/3|n.19A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|1/15|n.61A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|1/18|n.19A>G||||||
22	41605741	.	C	T	.	.	ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.41C>T|p.Thr14Met|42/864|41/863|14/286||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.66C>T|p.Asp22Asp|224/3296|66/2118|22/705||,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*86C>T|||||1324|,T|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1885G>A||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.147C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.246C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.120C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*86C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.108C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.66C>T||||||,T|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.725G>A||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.42C>T||||||
22	41605776	.	G	C	.	.	ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.101G>C|p.Arg34Pro|259/3296|101/2118|34/705||,C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.76G>C|p.Gly26Arg|77/864|76/863|26/286||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*121G>C|||||1359|,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1850C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.182G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.281G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.155G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*121G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.143G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.101G>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.690C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.77G>C||||||
22	41605809	.	G	C	.	.	ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.134G>C|p.Ser45Thr|292/3296|134/2118|45/705||,C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.109G>C|p.Ala37Pro|110/864|109/863|37/286||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*154G>C|||||1392|,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1817C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.215G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.314G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.188G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*154G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.176G>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.134G>C||||||,C|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.657C>G||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.110G>C||||||
22	41605892	.	A	G	.	.	ANN=G|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|2/17|c.217A>G|p.Ser73Gly|375/3296|217/2118|73/705||,G|synonymous_variant|LOW|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|1/6|c.192A>G|p.Ser64Ser|193/864|192/863|64/286||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*237A>G|||||1475|,G|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense|3/3|n.1734T>C||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|2/14|n.298A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript|3/6|n.397A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|2/16|n.271A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000453659|nonsense_mediated_decay|3/3|n.*237A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|2/15|n.259A>G||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|2/18|n.217A>G||||||,G|non_coding_exon_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense|3/3|n.574T>C||||||,G|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|1/7|n.193A>G||||||
22	41617247	.	C	T	.	.	ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|8/17|c.898C>T|p.Arg300Trp|1056/3296|898/2118|300/705||,T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding|6/6|c.739C>T|p.Arg247Trp|740/864|739/863|247/286||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|8/17|c.898C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|9/17|c.898C>T||||||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|helix|ENST00000216237|protein_coding|8/17|c.898C>T||||||,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|6/7|n.*57C>T|||||387|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000441316|antisense||n.-1G>A|||||3616|,T|upstream_gene_variant|MODIFIER|RP4-756G23.5|ENSG00000235513|transcript|ENST00000451176|antisense||n.-1G>A|||||3620|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000489136|processed_transcript||n.*751C>T|||||4070|,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|8/14|n.1021C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|8/16|n.952C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|7/15|n.3156C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|8/18|n.898C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|6/7|n.*57C>T||||||
22	41620091	.	T	C	.	.	ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|9/17|c.1010T>C|p.Val337Ala|1168/3296|1010/2118|337/705||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|8/17|c.1010T>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_2|ENST00000216237|protein_coding|9/17|c.1010T>C||||||,C|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|7/7|n.*169T>C|||||3231|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864T>C|||||2720|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|9/14|n.1133T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|9/16|n.1064T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|8/15|n.3268T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|9/18|n.1010T>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay|7/7|n.*169T>C||||||
22	41621871	.	A	C	.	.	ANN=C|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|12/17|c.1430A>C|p.Tyr477Ser|1588/3296|1430/2118|477/705||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|10/17|c.1430A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|12/17|c.1430A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|repeat:MBT_3|ENST00000216237|protein_coding|11/17|c.1430A>C||||||,C|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|12/17|c.1430A>C||||||,C|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342T>G|||||3646|,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000449635|protein_coding||c.*864A>C|||||4500|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699A>C|||||1702|,C|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054T>G|||||3646|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|12/14|n.1553A>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|12/16|n.1484A>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|11/15|n.3688A>C||||||,C|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|12/18|n.1430A>C||||||
22	41623324	.	G	T	.	.	ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|14/17|c.1819G>T|p.Ala607Ser|1977/3296|1819/2118|607/705||,T|sequence_feature|LOW|L3MBTL2|ENSG00000100395|beta_strand|ENST00000216237|protein_coding|14/17|c.1819G>T||||||,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding||c.*2342C>A|||||2193|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000450939|nonsense_mediated_decay||n.*699G>T|||||3155|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding||c.*2054C>A|||||2193|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron|14/14|n.1942G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|14/16|n.1873G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|13/15|n.4077G>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|14/18|n.1819G>T||||||
22	41626190	.	G	A	.	.	ANN=A|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|17/17|c.2053G>A|p.Asp685Asn|2211/3296|2053/2118|685/705||,A|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*313G>A|||||2589|,A|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432G>A|||||2376|,A|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000455425|protein_coding||c.*758C>T|||||4954|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-456C>T||||||,A|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-456C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|16/16|n.2587G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|15/15|n.4791G>A||||||,A|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*313G>A||||||
22	41626245	.	C	T	.	.	ANN=T|missense_variant|MODERATE|L3MBTL2|ENSG00000100395|transcript|ENST00000216237|protein_coding|17/17|c.2108C>T|p.Thr703Ile|2266/3296|2108/2118|703/705||,T|3_prime_UTR_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*368C>T|||||2644|,T|downstream_gene_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000481902|retained_intron||n.*2432C>T|||||2431|,T|downstream_gene_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000455425|protein_coding||c.*758G>A|||||4899|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000216241|protein_coding|5/5|c.2263-511G>A||||||,T|intron_variant|MODIFIER|CHADL|ENSG00000100399|transcript|ENST00000417999|protein_coding|4/4|c.2026-511G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000466589|retained_intron|16/16|n.2642C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000479978|retained_intron|15/15|n.4846C>T||||||,T|non_coding_exon_variant|MODIFIER|L3MBTL2|ENSG00000100395|transcript|ENST00000452106|nonsense_mediated_decay|18/18|n.*368C>T||||||
22	41642642	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|16/16|c.1729C>T|p.Arg577Cys|2033/3060|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|17/17|c.1729C>T|p.Arg577Cys|2442/3469|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|15/15|c.1729C>T|p.Arg577Cys|3199/4222|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|15/15|c.1564C>T|p.Arg522Cys|1597/1792|1564/1599|522/532||,A|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|16/16|c.1729C>T||||||
22	41645341	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|15/16|c.1687G>C|p.Val563Leu|1991/3060|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|16/17|c.1687G>C|p.Val563Leu|2400/3469|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|14/15|c.1687G>C|p.Val563Leu|3157/4222|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|14/15|c.1522G>C|p.Val508Leu|1555/1792|1522/1599|508/532||,G|sequence_feature|LOW|RANGAP1|ENSG00000100401|helix|ENST00000356244|protein_coding|15/16|c.1687G>C||||||
22	41650338	.	G	A,C,T	.	.	ANN=A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1234C>T|p.Arg412Trp|1538/3060|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1234C>G|p.Arg412Gly|1538/3060|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1234C>T|p.Arg412Trp|1947/3469|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1234C>G|p.Arg412Gly|1947/3469|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1234C>T|p.Arg412Trp|2704/4222|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1234C>G|p.Arg412Gly|2704/4222|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1069C>T|p.Arg357Trp|1102/1792|1069/1599|357/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1069C>G|p.Arg357Gly|1102/1792|1069/1599|357/532||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1234C>A|p.Arg412Arg|1538/3060|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1234C>A|p.Arg412Arg|1947/3469|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1234C>A|p.Arg412Arg|2704/4222|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1069C>A|p.Arg357Arg|1102/1792|1069/1599|357/532||,A|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>T|||||1687|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>G|||||1687|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>A|||||1687|WARNING_TRANSCRIPT_INCOMPLETE
22	41650371	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|11/16|c.1201C>G|p.Arg401Gly|1505/3060|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|12/17|c.1201C>G|p.Arg401Gly|1914/3469|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|10/15|c.1201C>G|p.Arg401Gly|2671/4222|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|10/15|c.1036C>G|p.Arg346Gly|1069/1792|1036/1599|346/532||,C|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding||c.*759C>G|||||1654|WARNING_TRANSCRIPT_INCOMPLETE
22	41652080	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|10/16|c.1018C>G|p.Gln340Glu|1322/3060|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|11/17|c.1018C>G|p.Gln340Glu|1731/3469|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|9/15|c.1018C>G|p.Gln340Glu|2488/4222|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|9/15|c.853C>G|p.Gln285Glu|886/1792|853/1599|285/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|7/7|c.703C>G|p.Gln235Glu|704/759|703/758|235/251||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_6|ENST00000356244|protein_coding|9/16|c.1018C>G||||||,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_6|ENST00000356244|protein_coding|10/16|c.1018C>G||||||
22	41652257	.	G	C	.	.	ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|9/16|c.926C>G|p.Ala309Gly|1230/3060|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|10/17|c.926C>G|p.Ala309Gly|1639/3469|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|8/15|c.926C>G|p.Ala309Gly|2396/4222|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|8/15|c.761C>G|p.Ala254Gly|794/1792|761/1599|254/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|6/7|c.611C>G|p.Ala204Gly|612/759|611/758|204/251||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|9/16|c.926C>G||||||,C|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_5|ENST00000356244|protein_coding|8/16|c.926C>G||||||
22	41657511	.	A	G	.	.	ANN=G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|6/16|c.554T>C|p.Phe185Ser|858/3060|554/1764|185/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|7/17|c.554T>C|p.Phe185Ser|1267/3469|554/1764|185/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|5/15|c.554T>C|p.Phe185Ser|2024/4222|554/1764|185/587||,G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding||c.*603T>C|||||3237|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/14|c.450+3157T>C||||||,G|intron_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/6|c.300+3157T>C||||||WARNING_TRANSCRIPT_INCOMPLETE
22	41660751	.	C	G	.	.	ANN=G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|5/16|c.397G>C|p.Glu133Gln|701/3060|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|6/17|c.397G>C|p.Glu133Gln|1110/3469|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|4/15|c.397G>C|p.Glu133Gln|1867/4222|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|5/15|c.367G>C|p.Glu123Gln|400/1792|367/1599|123/532||,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|3/7|c.217G>C|p.Glu73Gln|218/759|217/758|73/251||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|5/5|c.397G>C|p.Glu133Gln|600/603|397/400|133/132||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|RANGAP1|ENSG00000100401|repeat:LRR_2|ENST00000356244|protein_coding|5/16|c.397G>C||||||,G|downstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding||c.*650G>C|||||3350|WARNING_TRANSCRIPT_NO_STOP_CODON
22	41670623	.	T	C	.	.	ANN=C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|3/16|c.221A>G|p.Glu74Gly|525/3060|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|4/17|c.221A>G|p.Glu74Gly|934/3469|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|2/15|c.221A>G|p.Glu74Gly|1691/4222|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding|3/15|c.191A>G|p.Glu64Gly|224/1792|191/1599|64/532||,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000446258|protein_coding|1/7|c.41A>G|p.Glu14Gly|42/759|41/758|14/251||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|3/5|c.221A>G|p.Glu74Gly|424/603|221/400|74/132||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding|3/4|c.221A>G|p.Glu74Gly|571/650|221/300|74/99||WARNING_TRANSCRIPT_NO_STOP_CODON
22	41676991	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000356244|protein_coding|2/16|c.58G>A|p.Gly20Arg|362/3060|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000405486|protein_coding|3/17|c.58G>A|p.Gly20Arg|771/3469|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000455915|protein_coding|1/15|c.58G>A|p.Gly20Arg|1528/4222|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000452543|protein_coding|2/5|c.58G>A|p.Gly20Arg|261/603|58/400|20/132||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000418067|protein_coding|2/4|c.58G>A|p.Gly20Arg|408/650|58/300|20/99||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|RANGAP1|ENSG00000100401|transcript|ENST00000422838|protein_coding|3/3|c.58G>A|p.Gly20Arg|892/946|58/112|20/36||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANGAP1|ENSG00000100401|transcript|ENST00000407260|protein_coding||c.-34G>A|||||218|
22	41721792	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|3/22|c.155A>G|p.Tyr52Cys|155/5608|155/2934|52/977||,G|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|4/23|c.155A>G|p.Tyr52Cys|412/5909|155/2934|52/977||,G|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_1|ENST00000351589|protein_coding|3/22|c.155A>G||||||,G|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|4/7|n.219A>G||||||
22	41721905	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|3/22|c.268G>A|p.Ala90Thr|268/5608|268/2934|90/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|4/23|c.268G>A|p.Ala90Thr|525/5909|268/2934|90/977||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|3/22|c.268G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_2|ENST00000351589|protein_coding|4/22|c.268G>A||||||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|4/7|n.332G>A||||||
22	41723315	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/22|c.391C>T|p.Arg131Cys|391/5608|391/2934|131/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/23|c.391C>T|p.Arg131Cys|648/5909|391/2934|131/977||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.391C>T||||||,T|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.391C>T||||||,T|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/7|n.455C>T||||||
22	41723316	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|4/22|c.392G>A|p.Arg131His|392/5608|392/2934|131/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|5/23|c.392G>A|p.Arg131His|649/5909|392/2934|131/977||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|5/22|c.392G>A||||||,A|sequence_feature|LOW|ZC3H7B|ENSG00000100403|repeat:TPR_3|ENST00000351589|protein_coding|4/22|c.392G>A||||||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|5/7|n.456G>A||||||
22	41726079	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|5/22|c.497G>A|p.Arg166Gln|497/5608|497/2934|166/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|6/23|c.497G>A|p.Arg166Gln|754/5909|497/2934|166/977||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|6/7|n.561G>A||||||
22	41728205	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|6/22|c.556G>A|p.Gly186Ser|556/5608|556/2934|186/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|7/23|c.556G>A|p.Gly186Ser|813/5909|556/2934|186/977||,A|non_coding_exon_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron|7/7|n.620G>A||||||
22	41735050	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|8/22|c.671C>T|p.Thr224Met|671/5608|671/2934|224/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|9/23|c.671C>T|p.Thr224Met|928/5909|671/2934|224/977||,T|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262C>T|||||2203|
22	41735958	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.955G>A|p.Ala319Thr|955/5608|955/2934|319/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.955G>A|p.Ala319Thr|1212/5909|955/2934|319/977||,A|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262G>A|||||3111|
22	41736090	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.1087G>A|p.Asp363Asn|1087/5608|1087/2934|363/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.1087G>A|p.Asp363Asn|1344/5909|1087/2934|363/977||,A|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262G>A|||||3243|
22	41736138	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|9/22|c.1135A>C|p.Met379Leu|1135/5608|1135/2934|379/977||,C|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|10/23|c.1135A>C|p.Met379Leu|1392/5909|1135/2934|379/977||,C|downstream_gene_variant|MODIFIER|ZC3H7B|ENSG00000100403|transcript|ENST00000486331|retained_intron||n.*5262A>C|||||3291|
22	41739451	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|12/22|c.1330G>A|p.Gly444Ser|1330/5608|1330/2934|444/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|13/23|c.1330G>A|p.Gly444Ser|1587/5909|1330/2934|444/977||
22	41742139	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1592G>A|p.Gly531Asp|1592/5608|1592/2934|531/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1592G>A|p.Gly531Asp|1849/5909|1592/2934|531/977||
22	41742150	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|13/22|c.1603G>A|p.Gly535Ser|1603/5608|1603/2934|535/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|14/23|c.1603G>A|p.Gly535Ser|1860/5909|1603/2934|535/977||
22	41747576	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|16/22|c.1960G>A|p.Glu654Lys|1960/5608|1960/2934|654/977||,A|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|17/23|c.1960G>A|p.Glu654Lys|2217/5909|1960/2934|654/977||
22	41751488	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|17/22|c.2050C>T|p.His684Tyr|2050/5608|2050/2934|684/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|18/23|c.2050C>T|p.His684Tyr|2307/5909|2050/2934|684/977||
22	41751599	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000351589|protein_coding|17/22|c.2161C>T|p.Arg721Trp|2161/5608|2161/2934|721/977||,T|missense_variant|MODERATE|ZC3H7B|ENSG00000100403|transcript|ENST00000352645|protein_coding|18/23|c.2161C>T|p.Arg721Trp|2418/5909|2161/2934|721/977||
22	41783610	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TEF|ENSG00000167074|transcript|ENST00000266304|protein_coding|2/4|c.413C>T|p.Thr138Ile|529/4394|413/912|138/303||,T|missense_variant|MODERATE|TEF|ENSG00000167074|transcript|ENST00000406644|protein_coding|2/4|c.323C>T|p.Thr108Ile|523/4386|323/822|108/273||,T|missense_variant|MODERATE|TEF|ENSG00000167074|transcript|ENST00000413942|protein_coding|2/3|c.308C>T|p.Thr103Ile|310/551|308/549|103/182||WARNING_TRANSCRIPT_NO_START_CODON
22	41832484	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.866G>A|p.Ser289Asn|1573/4561|866/1035|289/344||,T|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777G>A|||||562|WARNING_TRANSCRIPT_INCOMPLETE
22	41832485	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.865A>G|p.Ser289Gly|1572/4561|865/1035|289/344||,C|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777A>G|||||561|WARNING_TRANSCRIPT_INCOMPLETE
22	41832562	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.788A>G|p.Asn263Ser|1495/4561|788/1035|263/344||,C|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777A>G|||||484|WARNING_TRANSCRIPT_INCOMPLETE
22	41832698	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.652C>T|p.Arg218Cys|1359/4561|652/1035|218/344||,A|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777C>T|||||348|WARNING_TRANSCRIPT_INCOMPLETE
22	41832989	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.361G>A|p.Gly121Ser|1068/4561|361/1035|121/344||,T|downstream_gene_variant|MODIFIER|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding||c.*777G>A|||||57|WARNING_TRANSCRIPT_INCOMPLETE
22	41833136	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.214G>A|p.Ala72Thr|921/4561|214/1035|72/344||,T|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding|2/2|c.214G>A|p.Ala72Thr|687/777|214/304|72/100||WARNING_TRANSCRIPT_INCOMPLETE
22	41833225	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000327492|protein_coding|2/2|c.125G>C|p.Gly42Ala|832/4561|125/1035|42/344||,G|missense_variant|MODERATE|TOB2|ENSG00000183864|transcript|ENST00000434408|protein_coding|2/2|c.125G>C|p.Gly42Ala|598/777|125/304|42/100||WARNING_TRANSCRIPT_INCOMPLETE
22	41903841	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|3/18|c.220C>G|p.Leu74Val|237/2811|220/2418|74/805||,G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|3/18|c.220C>G|p.Leu74Val|242/2741|220/2343|74/780||,G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.-1C>G|||||1|,G|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron||n.-1C>G|||||178|,G|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript|2/3|n.396C>G||||||
22	41911426	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|5/18|c.571A>C|p.Thr191Pro|588/2811|571/2418|191/805||,C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|5/18|c.571A>C|p.Thr191Pro|593/2741|571/2343|191/780||,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript||n.-1A>C|||||91|,C|upstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.-1A>C|||||344|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699A>C|||||3456|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624A>C|||||3135|,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|3/4|n.174A>C||||||
22	41911805	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|6/18|c.719G>C|p.Gly240Ala|736/2811|719/2418|240/805||,C|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|6/18|c.719G>C|p.Gly240Ala|741/2741|719/2343|240/780||,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000471094|processed_transcript||n.*699G>C|||||3835|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000482208|retained_intron||n.*624G>C|||||3514|,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000478010|retained_intron|4/4|n.322G>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000481310|processed_transcript|2/3|n.58G>C||||||,C|non_coding_exon_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript|1/5|n.36G>C||||||
22	41919850	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/18|c.1462G>T|p.Gly488Trp|1479/2811|1462/2418|488/805||,T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/18|c.1387G>T|p.Gly463Trp|1409/2741|1387/2343|463/780||,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959C>A|||||1980|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747G>T|||||2256|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680C>A|||||1958|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>A|||||4996|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>A|||||4997|
22	41919893	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|12/18|c.1505C>T|p.Thr502Met|1522/2811|1505/2418|502/805||,T|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|12/18|c.1430C>T|p.Thr477Met|1452/2741|1430/2343|477/780||,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>A|||||1937|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>T|||||2299|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>A|||||1915|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>A|||||4953|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>A|||||4954|,T|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>A|||||4976|
22	41921234	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|14/18|c.1718C>G|p.Pro573Arg|1735/2811|1718/2418|573/805||,G|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|14/18|c.1643C>G|p.Pro548Arg|1665/2741|1643/2343|548/780||,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding||c.*959G>C|||||596|,G|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000466237|processed_transcript||n.*747C>G|||||3640|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding||c.*680G>C|||||574|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889G>C|||||3612|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726G>C|||||3613|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809G>C|||||3635|,G|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731G>C|||||3982|
22	41923407	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|16/18|c.2144G>A|p.Ser715Asn|2161/2811|2144/2418|715/805||,A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|16/18|c.2069G>A|p.Ser690Asn|2091/2741|2069/2343|690/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*1880C>T|||||1880|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*1880C>T|||||1880|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||1439|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||1440|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||1462|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||1809|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||4716|
22	41924552	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding|18/18|c.2353G>A|p.Glu785Lys|2370/2811|2353/2418|785/805||,A|missense_variant|MODERATE|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding|18/18|c.2278G>A|p.Glu760Lys|2300/2741|2278/2343|760/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|6/6|c.*735C>T|||||735|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|7/7|c.*735C>T|||||735|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding||c.*889C>T|||||294|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay||n.*726C>T|||||295|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay||n.*809C>T|||||317|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding||c.*731C>T|||||664|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||3571|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||4077|
22	41926698	.	G	A	.	.	ANN=A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.554C>T|p.Thr185Met|898/4416|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.554C>T|p.Thr185Met|619/4159|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.467C>T|p.Thr156Met|828/1330|467/528|156/175||,A|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.554C>T|p.Thr185Met|670/802|554/615|185/204||,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*237C>T|||||1442|,A|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*310C>T|||||2016|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435G>A|||||1705|,A|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365G>A|||||1705|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266C>T|||||1425|,A|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517C>T|||||1931|,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*237C>T||||||,A|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*310C>T||||||
22	41926730	.	A	C	.	.	ANN=C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.522T>G|p.Ser174Arg|866/4416|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.522T>G|p.Ser174Arg|587/4159|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.435T>G|p.Ser145Arg|796/1330|435/528|145/175||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.522T>G|p.Ser174Arg|638/802|522/615|174/204||,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*205T>G|||||1410|,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*278T>G|||||1984|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435A>C|||||1737|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365A>C|||||1737|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266T>G|||||1393|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517T>G|||||1899|,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*205T>G||||||,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*278T>G||||||
22	41926756	.	T	C	.	.	ANN=C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|5/6|c.496A>G|p.Ser166Gly|840/4416|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|6/7|c.496A>G|p.Ser166Gly|561/4159|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|4/5|c.409A>G|p.Ser137Gly|770/1330|409/528|137/175||,C|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|6/7|c.496A>G|p.Ser166Gly|612/802|496/615|166/204||,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*179A>G|||||1384|,C|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*252A>G|||||1958|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435T>C|||||1763|,C|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365T>C|||||1763|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay||n.*266A>G|||||1367|,C|downstream_gene_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript||n.*517A>G|||||1873|,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|5/6|n.*179A>G||||||,C|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|5/6|n.*252A>G||||||
22	41928740	.	C	T	.	.	ANN=T|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|3/6|c.218G>A|p.Arg73His|562/4416|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|4/7|c.218G>A|p.Arg73His|283/4159|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|4/7|c.218G>A|p.Arg73His|334/802|218/615|73/204||,T|3_prime_UTR_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|5/6|n.*171G>A|||||947|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000396512|protein_coding||c.*2435C>T|||||3747|,T|downstream_gene_variant|MODIFIER|ACO2|ENSG00000100412|transcript|ENST00000216254|protein_coding||c.*2365C>T|||||3747|,T|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/4|c.209-579G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|3/6|n.218G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|3/6|n.457G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|5/6|n.*171G>A||||||,T|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|2/2|n.406G>A||||||
22	41936720	.	C	G	.	.	ANN=G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000355209|protein_coding|2/6|c.191G>C|p.Gly64Ala|535/4416|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000396504|protein_coding|3/7|c.191G>C|p.Gly64Ala|256/4159|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000337566|protein_coding|2/5|c.191G>C|p.Gly64Ala|552/1330|191/528|64/175||,G|missense_variant|MODERATE|POLR3H|ENSG00000100413|transcript|ENST00000407461|protein_coding|3/7|c.191G>C|p.Gly64Ala|307/802|191/615|64/204||,G|intron_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000420561|processed_transcript|1/1|n.396+3275G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000431534|nonsense_mediated_decay|2/6|n.191G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000432789|nonsense_mediated_decay|2/6|n.430G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000442616|nonsense_mediated_decay|3/6|n.191G>C||||||,G|non_coding_exon_variant|MODIFIER|POLR3H|ENSG00000100413|transcript|ENST00000483837|retained_intron|3/3|n.256G>C||||||
22	41969745	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding|3/4|c.263A>C|p.Glu88Ala|807/2777|263/462|88/153||,C|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|2/3|c.212A>C|p.Glu71Ala|212/721|212/456|71/151||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|3/4|c.263A>C||||||,C|sequence_feature|LOW|CSDC2|ENSG00000172346|domain:CSD|ENST00000306149|protein_coding|4/4|c.263A>C||||||,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding||c.*874T>G|||||3153|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.*2538T>G|||||3162|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.*2020T>G|||||3162|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron||n.*1576T>G|||||3190|,C|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron||n.*1405T>G|||||3196|
22	41973290	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.266C>T|p.Ser89Leu|266/721|266/456|89/151||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|8/8|c.*32G>A|||||32|,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||620|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|3/3|n.2155G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|5/5|n.1637G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|8/8|n.1221G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|7/7|n.1056G>A||||||
22	41973374	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|8/8|c.737C>T|p.Thr246Met|822/1298|737/789|246/262||,A|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.350G>A|p.Arg117His|350/721|350/456|117/151||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|8/8|c.737C>T||||||,A|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006G>A|||||704|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|3/3|n.2071C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|5/5|n.1553C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|8/8|n.1137C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|7/7|n.972C>T||||||
22	41973390	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|8/8|c.721G>A|p.Val241Met|806/1298|721/789|241/262||,T|synonymous_variant|LOW|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.366C>T|p.His122His|366/721|366/456|122/151||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||720|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|3/3|n.2055G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|5/5|n.1537G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|8/8|n.1121G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|7/7|n.956G>A||||||
22	41973452	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CSDC2|ENSG00000172346|transcript|ENST00000460790|protein_coding|3/3|c.428C>T|p.Thr143Ile|428/721|428/456|143/151||WARNING_TRANSCRIPT_NO_START_CODON,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|7/7|c.667-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron|2/2|n.2001-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|4/4|n.1483-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|7/7|n.1067-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|6/6|n.902-8G>A||||||,T|downstream_gene_variant|MODIFIER|CSDC2|ENSG00000172346|transcript|ENST00000306149|protein_coding||c.*1006C>T|||||782|
22	41980043	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|5/8|c.394C>T|p.Arg132Trp|479/1298|394/789|132/262||,A|sequence_feature|LOW|PMM1|ENSG00000100417|binding_site:Substrate|ENST00000216259|protein_coding|5/8|c.394C>T||||||,A|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|6/6|n.*299C>T|||||2147|,A|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1C>T|||||3350|,A|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866C>T|||||2067|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|2/5|n.1210C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|5/8|n.794C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|4/7|n.629C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|6/6|n.519C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|3/3|n.790C>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|6/6|n.*299C>T||||||
22	41980349	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|4/8|c.310C>A|p.Leu104Met|395/1298|310/789|104/262||,T|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|4/8|c.310C>A||||||,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|5/6|n.*215C>A|||||1841|,T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000463617|retained_intron||n.-1C>A|||||3656|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866C>A|||||1761|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron|2/5|n.904C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|5/8|n.488C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|4/7|n.323C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|5/6|n.435C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|3/3|n.484C>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|5/6|n.*215C>A||||||
22	41982107	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|2/8|c.178G>A|p.Ala60Thr|263/1298|178/789|60/262||,T|sequence_feature|LOW|PMM1|ENSG00000100417|helix|ENST00000216259|protein_coding|2/8|c.178G>A||||||,T|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*83G>A|||||83|,T|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1G>A|||||701|,T|downstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron||n.*866G>A|||||3|,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|3/8|n.356G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|2/7|n.191G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|3/6|n.303G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|2/3|n.198G>A||||||,T|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*83G>A||||||
22	41982136	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|2/8|c.149T>C|p.Val50Ala|234/1298|149/789|50/262||,G|sequence_feature|LOW|PMM1|ENSG00000100417|beta_strand|ENST00000216259|protein_coding|2/8|c.149T>C||||||,G|3_prime_UTR_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*54T>C|||||54|,G|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1T>C|||||730|,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|3/8|n.327T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|2/7|n.162T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|3/6|n.274T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|2/3|n.169T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|3/6|n.*54T>C||||||,G|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron|2/2|n.840T>C||||||
22	41985797	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PMM1|ENSG00000100417|transcript|ENST00000216259|protein_coding|1/8|c.13G>T|p.Ala5Ser|98/1298|13/789|5/262||,A|upstream_gene_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000482178|retained_intron||n.-1G>T|||||4391|,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000472620|retained_intron|1/8|n.79G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000485648|retained_intron|1/7|n.26G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000466645|processed_transcript|1/6|n.4G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000478337|retained_intron|1/3|n.33G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000414636|nonsense_mediated_decay|1/6|n.13G>T||||||,A|non_coding_exon_variant|MODIFIER|PMM1|ENSG00000100417|transcript|ENST00000493389|retained_intron|1/2|n.37G>T||||||
22	42000072	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DESI1|ENSG00000100418|transcript|ENST00000263256|protein_coding|4/6|c.266C>T|p.Ser89Phe|523/3833|266/507|89/168||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|1/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|4/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|5/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|3/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|2/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|domain:PPPDE_peptidase|ENST00000263256|protein_coding|6/6|c.266C>T||||||,A|sequence_feature|LOW|DESI1|ENSG00000100418|helix|ENST00000263256|protein_coding|4/6|c.266C>T||||||,A|upstream_gene_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000468151|processed_transcript||n.-1C>T|||||1545|,A|non_coding_exon_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000463886|processed_transcript|1/3|n.158C>T||||||,A|non_coding_exon_variant|MODIFIER|DESI1|ENSG00000100418|transcript|ENST00000482612|retained_intron|1/2|n.20C>T||||||
22	42032610	.	C	T	.	.	ANN=T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|4/12|c.425C>T|p.Ser142Leu|1080/2709|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|5/13|c.425C>T|p.Ser142Leu|667/2296|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|5/13|c.302C>T|p.Ser101Leu|368/1998|302/1707|101/568||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|4/12|c.26C>T|p.Ser9Leu|367/1995|26/1431|9/476||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|5/13|c.425C>T|p.Ser142Leu|571/2200|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|3/11|c.275C>T|p.Ser92Leu|334/1958|275/1680|92/559||
22	42033686	.	A	G	.	.	ANN=G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000359308|protein_coding|5/12|c.664A>G|p.Ser222Gly|1319/2709|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000360079|protein_coding|6/13|c.664A>G|p.Ser222Gly|906/2296|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000402580|protein_coding|6/13|c.541A>G|p.Ser181Gly|607/1998|541/1707|181/568||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000428575|protein_coding|5/12|c.265A>G|p.Ser89Gly|606/1995|265/1431|89/476||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405878|protein_coding|6/13|c.664A>G|p.Ser222Gly|810/2200|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|ENSG00000196419|transcript|ENST00000405506|protein_coding|4/11|c.514A>G|p.Ser172Gly|573/1958|514/1680|172/559||
22	42095573	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.31A>G|p.Thr11Ala|71/4020|31/3825|11/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-750A>G|||||24421|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2946A>G|||||82166|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1866A>G|||||54423|,G|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817A>G|||||1433|,G|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857A>G|||||3525|
22	42095603	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.61G>A|p.Ala21Thr|101/4020|61/3825|21/1274||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-720G>A|||||24391|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2916G>A|||||82136|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1836G>A|||||54393|,A|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817G>A|||||1463|,A|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857G>A|||||3555|
22	42095658	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.116T>G|p.Val39Gly|156/4020|116/3825|39/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-665T>G|||||24336|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2861T>G|||||82081|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1781T>G|||||54338|,G|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817T>G|||||1518|,G|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857T>G|||||3610|
22	42095711	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|1/31|c.169G>C|p.Val57Leu|209/4020|169/3825|57/1274||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-612G>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2808G>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1728G>C||||||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|1/20|c.-612G>C|||||24283|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|1/30|c.-2808G>C|||||82028|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|1/30|c.-1728G>C|||||54285|,C|downstream_gene_variant|MODIFIER|C22orf46|ENSG00000184208|transcript|ENST00000402966|protein_coding||c.*817G>C|||||1571|,C|downstream_gene_variant|MODIFIER|Z83840.1|ENSG00000255782|transcript|ENST00000539984|pseudogene||n.*1857G>C|||||3663|
22	42099371	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|2/31|c.211G>C|p.Asp71His|251/4020|211/3825|71/1274||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|2/20|c.-570G>C|||||20623|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|2/30|c.-2766G>C|||||78368|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|2/30|c.-1686G>C|||||50625|
22	42114122	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|6/31|c.577G>T|p.Gly193Cys|617/4020|577/3825|193/1274||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|6/20|c.-204G>T|||||5872|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|6/30|c.-2400G>T|||||63617|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|6/30|c.-1320G>T|||||35874|,T|downstream_gene_variant|MODIFIER|RNU6ATAC22P|ENSG00000252603|transcript|ENST00000516794|snRNA||n.*89C>A|||||3925|
22	42125754	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|8/31|c.950C>T|p.Ala317Val|990/4020|950/3825|317/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|8/20|c.170C>T|p.Ala57Val|975/2326|170/1521|57/506||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|8/30|c.-2027C>T|||||51985|,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|8/30|c.-947C>T|||||24242|
22	42139175	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|12/31|c.1423A>C|p.Thr475Pro|1463/4020|1423/3825|475/1274||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|12/20|c.643A>C|p.Thr215Pro|1448/2326|643/1521|215/506||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|12/30|c.-1554A>C|||||38564|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|12/30|c.-474A>C|||||10821|,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000206813|transcript|ENST00000384086|misc_RNA||n.-1A>C|||||4141|
22	42148633	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|16/31|c.1831G>A|p.Ala611Thr|1871/4020|1831/3825|611/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|16/20|c.1051G>A|p.Ala351Thr|1856/2326|1051/1521|351/506||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|16/30|c.-1146G>A|||||29106|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|16/30|c.-66G>A|||||1363|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/8|c.-118G>A|||||5831|,A|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.-1G>A|||||954|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|1/5|n.170G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/4|n.126G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|1/5|n.113G>A||||||
22	42149991	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|17/31|c.1892A>G|p.Tyr631Cys|1932/4020|1892/3825|631/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|17/20|c.1112A>G|p.Tyr371Cys|1917/2326|1112/1521|371/506||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|17/30|c.-1085A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|17/30|c.-5A>G||||||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|17/30|c.-1085A>G|||||27748|,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|17/30|c.-5A>G|||||5|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|1/3|n.148+1336A>G||||||,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|1/7|c.-96+1336A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|2/5|n.231A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|2/5|n.174A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|1/2|n.405A>G||||||
22	42154380	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/31|c.1963G>A|p.Val655Met|2003/4020|1963/3825|655/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/20|c.1183G>A|p.Val395Met|1988/2326|1183/1521|395/506||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/30|c.67G>A|p.Val23Met|1988/3901|67/1824|23/607||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-1014G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-84G>A||||||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-1014G>A|||||23359|,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-84G>A|||||84|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/5|n.302G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/4|n.160G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/5|n.245G>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|2/2|n.476G>A||||||
22	42154386	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|18/31|c.1969G>C|p.Glu657Gln|2009/4020|1969/3825|657/1274||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|18/20|c.1189G>C|p.Glu397Gln|1994/2326|1189/1521|397/506||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|18/30|c.73G>C|p.Glu25Gln|1994/3901|73/1824|25/607||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|18/30|c.-1008G>C|||||23353|,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|2/8|c.-78G>C|||||78|,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript|3/5|n.308G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|2/4|n.166G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|3/5|n.251G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron|2/2|n.482G>C||||||
22	42159255	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2198C>T|p.Pro733Leu|2238/4020|2198/3825|733/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1418C>T|p.Pro473Leu|2223/2326|1418/1521|473/506||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.302C>T|p.Pro101Leu|2223/3901|302/1824|101/607||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.152C>T|p.Pro51Leu|385/1358|152/810|51/269||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-779C>T|||||18484|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript||n.*589C>T|||||2|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578C>T|||||4773|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.395C>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.480C>T||||||
22	42159270	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2213A>G|p.Lys738Arg|2253/4020|2213/3825|738/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1433A>G|p.Lys478Arg|2238/2326|1433/1521|478/506||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.317A>G|p.Lys106Arg|2238/3901|317/1824|106/607||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.167A>G|p.Lys56Arg|400/1358|167/810|56/269||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-764A>G|||||18469|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript||n.*589A>G|||||17|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578A>G|||||4788|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.410A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.495A>G||||||
22	42159297	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|19/31|c.2240G>C|p.Cys747Ser|2280/4020|2240/3825|747/1274||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding|19/20|c.1460G>C|p.Cys487Ser|2265/2326|1460/1521|487/506||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|19/30|c.344G>C|p.Cys115Ser|2265/3901|344/1824|115/607||,C|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|3/8|c.194G>C|p.Cys65Ser|427/1358|194/810|65/269||,C|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|19/30|c.-737G>C|||||18442|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000492484|processed_transcript||n.*589G>C|||||44|,C|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000460702|retained_intron||n.*578G>C|||||4815|,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|3/4|n.437G>C||||||,C|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript|4/5|n.522G>C||||||
22	42166724	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/31|c.2303G>A|p.Gly768Asp|2343/4020|2303/3825|768/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/30|c.407G>A|p.Gly136Asp|2328/3901|407/1824|136/607||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/8|c.257G>A|p.Gly86Asp|490/1358|257/810|86/269||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/30|c.-674G>A|||||11015|,A|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.-1G>A|||||3460|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding||c.*2326G>A|||||3112|,A|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript||n.*571G>A|||||14|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|4/4|n.500G>A||||||
22	42166729	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|20/31|c.2308C>T|p.Pro770Ser|2348/4020|2308/3825|770/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|20/30|c.412C>T|p.Pro138Ser|2333/3901|412/1824|138/607||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|4/8|c.262C>T|p.Pro88Ser|495/1358|262/810|88/269||,T|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|20/30|c.-669C>T|||||11010|,T|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.-1C>T|||||3455|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540833|protein_coding||c.*2326C>T|||||3117|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476614|processed_transcript||n.*571C>T|||||19|,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000482055|processed_transcript|4/4|n.505C>T||||||
22	42172118	.	T	A	.	.	ANN=A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|21/31|c.2557T>A|p.Ser853Thr|2597/4020|2557/3825|853/1274||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|21/30|c.661T>A|p.Ser221Thr|2582/3901|661/1824|221/607||,A|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|5/8|c.511T>A|p.Ser171Thr|744/1358|511/810|171/269||,A|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|21/30|c.-420T>A|||||5621|,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|2/5|n.332T>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|1/3|n.68T>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|1/4|n.66T>A||||||,A|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|1/5|n.4T>A||||||
22	42174779	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|6/8|c.751A>G|p.Arg251Gly|984/1358|751/810|251/269||,G|synonymous_variant|LOW|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|22/31|c.2778A>G|p.Gln926Gln|2818/4020|2778/3825|926/1274||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|22/30|c.-199A>G|||||2960|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript||n.-1A>G|||||2576|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript||n.-1A>G|||||2624|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.-1A>G|||||2671|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding||c.-1A>G|||||2960|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|21/29|c.814+2508A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|3/5|n.553A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|2/3|n.289A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|2/4|n.287A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|2/5|n.225A>G||||||
22	42177317	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|23/31|c.2845A>G|p.Thr949Ala|2885/4020|2845/3825|949/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|22/30|c.844A>G|p.Thr282Ala|2765/3901|844/1824|282/607||,G|5_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|23/30|c.-132A>G|||||422|,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|7/8|c.*73A>G|||||2479|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript||n.-1A>G|||||38|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript||n.-1A>G|||||86|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.-1A>G|||||133|,G|upstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding||c.-1A>G|||||422|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript|4/5|n.620A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron|3/3|n.421A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron|3/4|n.354A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|3/5|n.357A>G||||||
22	42177841	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|24/31|c.3079A>G|p.Ser1027Gly|3119/4020|3079/3825|1027/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|24/30|c.103A>G|p.Ser35Gly|3104/3874|103/717|35/238||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|23/30|c.1078A>G|p.Ser360Gly|2999/3901|1078/1824|360/607||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|1/7|c.103A>G|p.Ser35Gly|103/874|103/717|35/238||,G|3_prime_UTR_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding|8/8|c.*307A>G|||||3003|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754A>G|||||100|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471A>G|||||474|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575A>G|||||13|,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript|4/5|n.591A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/6|n.487A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|1/8|n.439A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|1/6|n.392A>G||||||
22	42180400	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|25/31|c.3145A>G|p.Lys1049Glu|3185/4020|3145/3825|1049/1274||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|25/30|c.169A>G|p.Lys57Glu|3170/3874|169/717|57/238||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|24/30|c.1144A>G|p.Lys382Glu|3065/3901|1144/1824|382/607||,G|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|2/7|c.169A>G|p.Lys57Glu|169/874|169/717|57/238||,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000540880|protein_coding||c.*1043A>G|||||2551|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462246|processed_transcript||n.*754A>G|||||2659|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000473736|retained_intron||n.*471A>G|||||3033|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000462450|retained_intron||n.*575A>G|||||2572|,G|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000498456|processed_transcript||n.*621A>G|||||36|,G|intron_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|1/5|n.495+2551A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|2/8|n.505A>G||||||,G|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript|2/6|n.458A>G||||||
22	42191844	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000401548|protein_coding|30/31|c.3772G>T|p.Asp1258Tyr|3812/4020|3772/3825|1258/1274||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000300398|protein_coding|29/30|c.664G>T|p.Asp222Tyr|3665/3874|664/717|222/238||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000400107|protein_coding|29/30|c.1771G>T|p.Asp591Tyr|3692/3901|1771/1824|591/607||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000403492|protein_coding|6/7|c.664G>T|p.Asp222Tyr|664/874|664/717|222/238||,T|missense_variant|MODERATE|MEI1|ENSG00000167077|transcript|ENST00000423900|protein_coding|2/3|c.136G>T|p.Asp46Tyr|137/346|136/189|46/62||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding||c.-105G>T|||||4839|,T|upstream_gene_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding||c.-105G>T|||||4839|,T|downstream_gene_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000484966|processed_transcript||n.*842G>T|||||67|,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000487535|processed_transcript|5/6|n.922G>T||||||,T|non_coding_exon_variant|MODIFIER|MEI1|ENSG00000167077|transcript|ENST00000476893|processed_transcript|7/8|n.1132G>T||||||
22	42204946	.	A	T	.	.	ANN=T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|2/7|c.52A>T|p.Met18Leu|156/1270|52/690|18/229||,T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|2/4|c.52A>T|p.Met18Leu|156/525|52/351|18/116||,T|sequence_feature|LOW|CCDC134|ENSG00000100147|signal_peptide|ENST00000255784|protein_coding|2/7|c.52A>T||||||
22	42205957	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|3/7|c.178C>T|p.His60Tyr|282/1270|178/690|60/229||,T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/4|c.178C>T|p.His60Tyr|282/525|178/351|60/116||
22	42206280	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|4/7|c.295G>A|p.Glu99Lys|399/1270|295/690|99/229||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+276G>A||||||
22	42209279	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|5/7|c.322G>A|p.Val108Met|426/1270|322/690|108/229||,A|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3275G>A||||||
22	42209418	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|5/7|c.461A>G|p.Asn154Ser|565/1270|461/690|154/229||,G|intron_variant|MODIFIER|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|3/3|c.225+3414A>G||||||
22	42221714	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.577A>G|p.Thr193Ala|681/1270|577/690|193/229||,G|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.238A>G|p.Thr80Ala|342/525|238/351|80/116||,G|sequence_feature|LOW|CCDC134|ENSG00000100147|glycosylation_site:O-linked__GalNAc..._|ENST00000255784|protein_coding|7/7|c.577A>G||||||
22	42221808	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.671G>A|p.Arg224Lys|775/1270|671/690|224/229||,A|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.332G>A|p.Arg111Lys|436/525|332/351|111/116||
22	42221811	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000255784|protein_coding|7/7|c.674C>T|p.Ser225Phe|778/1270|674/690|225/229||,T|missense_variant|MODERATE|CCDC134|ENSG00000100147|transcript|ENST00000402061|protein_coding|4/4|c.335C>T|p.Ser112Phe|439/525|335/351|112/116||
22	42262921	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|2/19|c.175G>A|p.Gly59Ser|341/5240|175/3426|59/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.175G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gly/Pro/Ser-rich|ENST00000361204|protein_coding|2/19|c.175G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|2/22|n.175G>A||||||
22	42263050	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|2/19|c.304C>G|p.Pro102Ala|470/5240|304/3426|102/1141||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.304C>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gly/Pro/Ser-rich|ENST00000361204|protein_coding|2/19|c.304C>G||||||,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|2/22|n.304C>G||||||
22	42264726	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.650A>C|p.Asn217Thr|816/5240|650/3426|217/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.650A>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.650A>C||||||,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1A>C|||||4967|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.650A>C||||||
22	42264732	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|3/19|c.656C>T|p.Thr219Met|822/5240|656/3426|219/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|2/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|4/19|c.656C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|compositionally_biased_region:Gln-rich|ENST00000361204|protein_coding|3/19|c.656C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1C>T|||||4961|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|3/22|n.656C>T||||||
22	42266992	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|4/19|c.820C>T|p.Leu274Phe|986/5240|820/3426|274/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.820C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.820C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.-1C>T|||||2701|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1C>T|||||4443|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|4/22|n.820C>T||||||
22	42271363	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|6/19|c.1112G>A|p.Arg371Lys|1278/5240|1112/3426|371/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|domain:bHLH|ENST00000361204|protein_coding|5/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|domain:bHLH|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|helix|ENST00000361204|protein_coding|6/19|c.1112G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.-1G>A|||||72|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|6/22|n.1112G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|2/4|n.354G>A||||||
22	42271653	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|7/19|c.1311C>A|p.Asp437Glu|1477/5240|1311/3426|437/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1311C>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1311C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|7/22|n.1311C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|3/4|n.553C>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|1/2|n.219C>A||||||
22	42273264	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/19|c.1418C>T|p.Ala473Val|1584/5240|1418/3426|473/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1418C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1418C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/22|n.1418C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|4/4|n.660C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|2/2|n.326C>T||||||
22	42273269	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|8/19|c.1423G>C|p.Gly475Arg|1589/5240|1423/3426|475/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|2/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|8/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|1/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|4/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|7/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|5/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|3/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|6/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|8/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|4/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|7/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|5/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|3/19|c.1423G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|interacting_region:Interaction_with_LMNA|ENST00000361204|protein_coding|6/19|c.1423G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|8/22|n.1423G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron|4/4|n.665G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron|2/2|n.331G>C||||||
22	42273963	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|9/19|c.1597G>A|p.Asp533Asn|1763/5240|1597/3426|533/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|8/19|c.1597G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Lumenal|ENST00000361204|protein_coding|9/19|c.1597G>A||||||,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||563|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||593|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|9/22|n.1597G>A||||||
22	42276742	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1784G>C|p.Gly595Ala|1950/5240|1784/3426|595/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1784G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1784G>C||||||,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>C|||||4858|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>C|||||3342|,C|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>C|||||3372|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1884G>C||||||
22	42276792	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1834C>T|p.Arg612Cys|2000/5240|1834/3426|612/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1834C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1834C>T||||||,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1C>T|||||4808|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796C>T|||||3392|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432C>T|||||3422|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1934C>T||||||
22	42276825	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1867G>A|p.Val623Met|2033/5240|1867/3426|623/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1867G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1867G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||4775|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||3425|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||3455|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.1967G>A||||||
22	42276895	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1937G>A|p.Arg646Gln|2103/5240|1937/3426|646/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1937G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1937G>A||||||,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||4705|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>A|||||3495|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>A|||||3525|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.2037G>A||||||
22	42276957	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|10/19|c.1999G>T|p.Ala667Ser|2165/5240|1999/3426|667/1141||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.1999G>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.1999G>T||||||,T|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.*44G>T|||||44|,T|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>T|||||4643|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000462539|retained_intron||n.*796G>T|||||3557|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000464119|retained_intron||n.*432G>T|||||3587|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|11/22|n.*44G>T||||||
22	42280875	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|11/19|c.2068G>A|p.Asp690Asn|2234/5240|2068/3426|690/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2068G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2068G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/22|n.*113G>A|||||3962|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript||n.-1G>A|||||725|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|12/22|n.*113G>A||||||
22	42289164	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|12/19|c.2252A>G|p.His751Arg|2418/5240|2252/3426|751/1141||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2252A>G||||||,G|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2252A>G||||||,G|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|13/22|n.*297A>G|||||12251|,G|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1A>G|||||3908|,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|13/22|n.*297A>G||||||,G|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|4/13|n.803A>G||||||
22	42290857	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|13/19|c.2411G>A|p.Cys804Tyr|2577/5240|2411/3426|804/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2411G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2411G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/22|n.*456G>A|||||13944|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.-1G>A|||||2215|,A|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3G>A|||||3823|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|14/22|n.*456G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|5/13|n.962G>A||||||
22	42293140	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|14/19|c.2580G>C|p.Arg860Ser|2746/5240|2580/3426|860/1141||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2580G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2580G>C||||||,C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/22|n.*625G>C|||||16227|,C|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>C|||||3808|,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.-3G>C|||||1540|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1G>C|||||2947|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|15/22|n.*625G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|6/13|n.1131G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|1/2|n.69G>C||||||
22	42294751	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|15/19|c.2704G>C|p.Val902Leu|2870/5240|2704/3426|902/1141||,C|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|1/5|c.70G>C|p.Val24Leu|72/770|70/768|24/255||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.2704G>C||||||,C|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.2704G>C||||||,C|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|16/22|n.*749G>C|||||17838|,C|upstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.-1G>C|||||2197|,C|upstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.-1G>C|||||1336|,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|16/22|n.*749G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|7/13|n.1255G>C||||||,C|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron|2/2|n.193G>C||||||
22	42299074	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|17/19|c.3008C>T|p.Ala1003Val|3174/5240|3008/3426|1003/1141||,T|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|3/5|c.374C>T|p.Ala125Val|376/770|374/768|125/255||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3008C>T||||||,T|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3008C>T||||||,T|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1473C>T|||||22161|,T|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69C>T|||||2058|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634C>T|||||3882|,T|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450C>T|||||67|,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1473C>T||||||,T|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|11/13|n.1979C>T||||||
22	42299116	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|17/19|c.3050G>A|p.Ser1017Asn|3216/5240|3050/3426|1017/1141||,A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding|3/5|c.416G>A|p.Ser139Asn|418/770|416/768|139/255||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3050G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3050G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1515G>A|||||22203|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||2100|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000463741|retained_intron||n.*634G>A|||||3924|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||109|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|20/22|n.*1515G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|11/13|n.2021G>A||||||
22	42301477	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3239G>A|p.Arg1080Gln|3405/5240|3239/3426|1080/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3239G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3239G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1704G>A|||||24564|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||4461|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770G>A|||||500|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||2470|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1704G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2210G>A||||||
22	42301537	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SREBF2|ENSG00000198911|transcript|ENST00000361204|protein_coding|19/19|c.3299G>A|p.Gly1100Asp|3465/5240|3299/3426|1100/1141||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|14/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|13/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|9/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|18/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|15/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|19/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|17/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|11/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|12/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|10/19|c.3299G>A||||||,A|sequence_feature|LOW|SREBF2|ENSG00000198911|topological_domain:Cytoplasmic|ENST00000361204|protein_coding|16/19|c.3299G>A||||||,A|3_prime_UTR_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1764G>A|||||24624|,A|downstream_gene_variant|MODIFIER|MIR33A|ENSG00000207932|transcript|ENST00000385197|miRNA||n.*69G>A|||||4521|,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000435061|protein_coding||c.*770G>A|||||560|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000490262|retained_intron||n.*450G>A|||||2530|,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000424354|nonsense_mediated_decay|22/22|n.*1764G>A||||||,A|non_coding_exon_variant|MODIFIER|SREBF2|ENSG00000198911|transcript|ENST00000491541|processed_transcript|13/13|n.2270G>A||||||
22	42321451	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|3/3|c.475C>T|p.His159Tyr|520/926|475/555|159/184||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.475C>T||||||,A|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.475C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1C>T|||||2347|,A|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1C>T|||||2150|
22	42322155	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|2/3|c.317G>A|p.Arg106Gln|362/926|317/555|106/184||,T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|3/3|c.317G>A||||||,T|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Cytoplasmic|ENST00000291232|protein_coding|2/3|c.317G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1G>A|||||3051|,T|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1G>A|||||2854|
22	42322716	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TNFRSF13C|ENSG00000159958|transcript|ENST00000291232|protein_coding|1/3|c.62C>G|p.Pro21Arg|107/926|62/555|21/184||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Extracellular|ENST00000291232|protein_coding|1/3|c.62C>G||||||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|topological_domain:Extracellular|ENST00000291232|protein_coding|2/3|c.62C>G||||||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|repeat:TNFR-Cys|ENST00000291232|protein_coding|1/3|c.62C>G||||||,C|sequence_feature|LOW|TNFRSF13C|ENSG00000159958|disulfide_bond|ENST00000291232|protein_coding|1/3|c.62C>G||||||,C|upstream_gene_variant|MODIFIER|CTA-250D10.23|ENSG00000260655|transcript|ENST00000566575|lincRNA||n.-1C>G|||||3612|,C|upstream_gene_variant|MODIFIER|MIR378I|ENSG00000263463|transcript|ENST00000582688|miRNA||n.-1C>G|||||3415|
22	42341308	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CENPM|ENSG00000100162|transcript|ENST00000402420|protein_coding|3/5|c.214T>C|p.Ser72Pro|492/688|214/378|72/125||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000215980|protein_coding|4/6|c.231T>C|p.Ser77Ser|319/966|231/543|77/180||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000404067|protein_coding|3/4|c.129T>C|p.Ser43Ser|366/905|129/222|43/73||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000402338|protein_coding|3/5|c.129T>C|p.Ser43Ser|371/1002|129/441|43/146||,G|splice_region_variant&synonymous_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000407253|protein_coding|4/5|c.231T>C|p.Ser77Ser|291/818|231/324|77/107||,G|splice_region_variant&non_coding_exon_variant|LOW|CENPM|ENSG00000100162|transcript|ENST00000396437|retained_intron|4/4|n.306T>C||||||,G|downstream_gene_variant|MODIFIER|CENPM|ENSG00000100162|transcript|ENST00000460824|retained_intron||n.*303T>C|||||1004|
22	42377667	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|2/11|c.29C>A|p.Thr10Lys|284/2586|29/1077|10/358||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|2/9|c.29C>A|p.Thr10Lys|167/2258|29/252|10/83||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|2/10|c.29C>A|p.Thr10Lys|160/4649|29/1053|10/350||,A|5_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding|2/6|c.-11C>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.-1C>A|||||3979|,A|intron_variant|MODIFIER|CTA-250D10.19|ENSG00000224883|transcript|ENST00000424613|antisense|2/2|n.263+83G>T||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|1/9|c.11-4321C>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|1/8|c.11-4321C>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|2/9|n.29C>A||||||
22	42387596	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|7/11|c.689T>C|p.Val230Ala|944/2586|689/1077|230/358||,C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|6/10|c.497T>C|p.Val166Ala|717/1866|497/885|166/294||,C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|7/10|c.689T>C|p.Val230Ala|820/4649|689/1053|230/350||,C|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|6/9|c.497T>C|p.Val166Ala|572/991|497/861|166/286||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|9/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|2/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|3/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|7/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|10/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|5/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|4/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|6/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396426|protein_coding|8/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|7/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396426|protein_coding|6/11|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|9/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|2/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|3/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|7/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|10/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|5/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|4/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|6/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|domain:Septin-type_G|ENST00000396425|protein_coding|8/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|7/10|c.689T>C||||||,C|sequence_feature|LOW|SEPT3|ENSG00000100167|helix|ENST00000396425|protein_coding|6/10|c.689T>C||||||,C|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|5/9|c.*226T>C|||||3921|,C|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/9|n.*142T>C|||||3921|,C|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000449288|protein_coding||c.*876T>C|||||2003|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000460267|retained_intron||n.*621T>C|||||3903|,C|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|5/9|n.*142T>C||||||
22	42390746	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|10/10|c.1039G>A|p.Asp347Asn|1170/4649|1039/1053|347/350||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding|9/9|c.847G>A|p.Asp283Asn|922/991|847/861|283/286||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32G>A|||||4046|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay||n.-95G>A|||||3983|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay||n.-95G>A|||||3983|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.-48G>A|||||4030|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1G>A|||||4046|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1G>A|||||4051|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27G>A|||||4051|,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|10/10|c.1011+28G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|9/9|c.819+28G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|8/8|c.*548+28G>A||||||,A|intron_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|8/8|n.*464+28G>A||||||
22	42392945	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding|11/11|c.1051G>A|p.Ala351Thr|1306/2586|1051/1077|351/358||,A|missense_variant|MODERATE|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding|10/10|c.859G>A|p.Ala287Thr|1079/1866|859/885|287/294||,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding|9/9|c.*588G>A|||||9270|,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding|10/10|c.*2185G>A|||||2185|,A|3_prime_UTR_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|9/9|n.*504G>A|||||9270|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding||c.-32G>A|||||1847|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay||n.-95G>A|||||1784|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay||n.-95G>A|||||1784|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.-48G>A|||||1831|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.-1G>A|||||1847|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript||n.-1G>A|||||1852|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.-27G>A|||||1852|,A|downstream_gene_variant|MODIFIER|SLC25A5P1|ENSG00000215347|transcript|ENST00000450250|processed_pseudogene||n.*898C>T|||||4128|,A|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding||c.*936G>A|||||2130|,A|non_coding_exon_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay|9/9|n.*504G>A||||||
22	42394835	.	C	G	.	.	ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|1/6|c.13C>G|p.Gln5Glu|44/2255|13/930|5/309||,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396426|protein_coding||c.*1332C>G|||||610|,G|downstream_gene_variant|MODIFIER|SLC25A5P1|ENSG00000215347|transcript|ENST00000450250|processed_pseudogene||n.*898G>C|||||2238|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000406029|protein_coding||c.*1105C>G|||||1103|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000328414|protein_coding||c.*390C>G|||||610|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396425|protein_coding||c.*1184C>G|||||610|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000291236|protein_coding||c.*936C>G|||||4020|,G|downstream_gene_variant|MODIFIER|SEPT3|ENSG00000100167|transcript|ENST00000396417|nonsense_mediated_decay||n.*267C>G|||||765|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|1/9|n.13C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|1/8|n.13C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|1/9|n.13C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/4|n.44C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000461730|processed_transcript|1/4|n.39C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|1/6|n.13C>G||||||
22	42415326	.	G	A	.	.	ANN=A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/6|c.74G>A|p.Arg25Gln|105/2255|74/930|25/309||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1G>A|||||391|,A|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-682G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/9|n.74G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/8|n.74G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/9|n.74G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/6|n.74G>A||||||
22	42415359	.	G	A	.	.	ANN=A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|2/6|c.107G>A|p.Arg36Gln|138/2255|107/930|36/309||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding||c.-1G>A|||||358|,A|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-649G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|2/9|n.107G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|2/8|n.107G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|2/9|n.107G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/6|n.107G>A||||||
22	42415744	.	A	G	.	.	ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|3/6|c.250A>G|p.Thr84Ala|281/2255|250/930|84/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|1/7|c.28A>G|p.Thr10Ala|28/1001|28/708|10/235||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|1/3|n.94-264A>G||||||,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|2/5|n.172-16A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|3/9|n.250A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|3/8|n.250A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|3/9|n.250A>G||||||
22	42416056	.	A	G	.	.	ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|4/6|c.362A>G|p.Asp121Gly|393/2255|362/930|121/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|2/7|c.140A>G|p.Asp47Gly|140/1001|140/708|47/235||,G|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/6|n.*16A>G|||||16|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/9|n.362A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|4/8|n.362A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|4/9|n.362A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|2/4|n.142A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|4/6|n.*16A>G||||||
22	42418265	.	T	G	.	.	ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.419T>G|p.Phe140Cys|450/2255|419/930|140/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.197T>G|p.Phe66Cys|197/1001|197/708|66/235||,G|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*73T>G|||||2225|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1T>G|||||4902|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2165T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.419T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.419T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.199T>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*73T>G||||||
22	42418294	.	A	C	.	.	ANN=C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.448A>C|p.Ser150Arg|479/2255|448/930|150/309||,C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.226A>C|p.Ser76Arg|226/1001|226/708|76/235||,C|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*102A>C|||||2254|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>C|||||4873|,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2194A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.448A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.448A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.228A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*102A>C||||||
22	42418333	.	A	C	.	.	ANN=C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.487A>C|p.Met163Leu|518/2255|487/930|163/309||,C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.265A>C|p.Met89Leu|265/1001|265/708|89/235||,C|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*141A>C|||||2293|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>C|||||4834|,C|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2233A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.487A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.487A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.267A>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*141A>C||||||
22	42418340	.	C	G	.	.	ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.494C>G|p.Thr165Ser|525/2255|494/930|165/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.272C>G|p.Thr91Ser|272/1001|272/708|91/235||,G|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*148C>G|||||2300|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1C>G|||||4827|,G|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2240C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.494C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.494C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.274C>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*148C>G||||||
22	42418355	.	G	T	.	.	ANN=T|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|5/6|c.509G>T|p.Cys170Phe|540/2255|509/930|170/309||,T|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|3/7|c.287G>T|p.Cys96Phe|287/1001|287/708|96/235||,T|3_prime_UTR_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*163G>T|||||2315|,T|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1G>T|||||4812|,T|intron_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|4/8|n.406+2255G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|5/8|n.509G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|5/9|n.509G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript|3/4|n.289G>T||||||,T|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay|5/6|n.*163G>T||||||
22	42423052	.	A	G	.	.	ANN=G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.797A>G|p.Asn266Ser|828/2255|797/930|266/309||,G|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.575A>G|p.Asn192Ser|575/1001|575/708|192/235||,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1A>G|||||115|,G|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1A>G|||||3498|,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.*569A>G|||||8|,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278A>G|||||254|,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.689A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.797A>G||||||,G|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.797A>G||||||
22	42423069	.	G	A	.	.	ANN=A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.814G>A|p.Gly272Arg|845/2255|814/930|272/309||,A|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.592G>A|p.Gly198Arg|592/1001|592/708|198/235||,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1G>A|||||98|,A|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1G>A|||||3481|,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.*569G>A|||||25|,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278G>A|||||271|,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.706G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.814G>A||||||,A|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.814G>A||||||
22	42423110	.	G	C	.	.	ANN=C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000328823|protein_coding|6/6|c.855G>C|p.Gln285His|886/2255|855/930|285/309||,C|missense_variant|MODERATE|WBP2NL|ENSG00000183066|transcript|ENST00000543212|protein_coding|4/7|c.633G>C|p.Gln211His|633/1001|633/708|211/235||,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000487176|processed_transcript||n.-1G>C|||||57|,C|upstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000470812|retained_intron||n.-1G>C|||||3440|,C|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000475341|processed_transcript||n.*569G>C|||||66|,C|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000445185|nonsense_mediated_decay||n.*278G>C|||||312|,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000412113|nonsense_mediated_decay|5/9|n.747G>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000329620|nonsense_mediated_decay|6/8|n.855G>C||||||,C|non_coding_exon_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay|6/9|n.855G>C||||||
22	42456944	.	C	A	.	.	ANN=A|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|8/9|c.1085G>T|p.Gly362Val|1618/3694|1085/1236|362/411||,A|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|9/10|c.1085G>T|p.Gly362Val|1222/1856|1085/1236|362/411||,A|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|9/10|c.1085G>T|p.Gly362Val|1241/1869|1085/1236|362/411||,A|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>A|||||2484|
22	42457043	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|8/9|c.986G>A|p.Arg329Gln|1519/3694|986/1236|329/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|9/10|c.986G>A|p.Arg329Gln|1123/1856|986/1236|329/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|9/10|c.986G>A|p.Arg329Gln|1142/1869|986/1236|329/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|9/10|c.986G>A||||||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>T|||||2583|
22	42458942	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|7/9|c.846G>A|p.Met282Ile|1379/3694|846/1236|282/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|8/10|c.846G>A|p.Met282Ile|983/1856|846/1236|282/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|8/10|c.846G>A|p.Met282Ile|1002/1869|846/1236|282/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|8/10|c.846G>A||||||,T|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977C>T|||||4482|
22	42459021	.	A	G	.	.	ANN=G|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|7/9|c.767T>C|p.Ile256Thr|1300/3694|767/1236|256/411||,G|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|8/10|c.767T>C|p.Ile256Thr|904/1856|767/1236|256/411||,G|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|8/10|c.767T>C|p.Ile256Thr|923/1869|767/1236|256/411||,G|downstream_gene_variant|MODIFIER|WBP2NL|ENSG00000183066|transcript|ENST00000436265|nonsense_mediated_decay||n.*977A>G|||||4561|
22	42461804	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|6/9|c.697G>A|p.Val233Met|1230/3694|697/1236|233/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|7/10|c.697G>A|p.Val233Met|834/1856|697/1236|233/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|7/10|c.697G>A|p.Val233Met|853/1869|697/1236|233/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|7/10|c.697G>A||||||
22	42463140	.	G	C	.	.	ANN=C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.479C>G|p.Ser160Cys|1012/3694|479/1236|160/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.479C>G|p.Ser160Cys|616/1856|479/1236|160/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.479C>G|p.Ser160Cys|635/1869|479/1236|160/411||
22	42463165	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.454A>G|p.Met152Val|987/3694|454/1236|152/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.454A>G|p.Met152Val|591/1856|454/1236|152/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.454A>G|p.Met152Val|610/1869|454/1236|152/411||,C|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|5/10|c.454A>G||||||,C|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|5/10|c.454A>G||||||
22	42463213	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.406G>A|p.Asp136Asn|939/3694|406/1236|136/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.406G>A|p.Asp136Asn|543/1856|406/1236|136/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.406G>A|p.Asp136Asn|562/1869|406/1236|136/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|5/10|c.406G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|helix|ENST00000403363|protein_coding|5/10|c.406G>A||||||
22	42463267	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|4/9|c.352A>G|p.Ile118Val|885/3694|352/1236|118/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|5/10|c.352A>G|p.Ile118Val|489/1856|352/1236|118/411||,C|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|5/10|c.352A>G|p.Ile118Val|508/1869|352/1236|118/411||,C|sequence_feature|LOW|NAGA|ENSG00000198951|beta_strand|ENST00000403363|protein_coding|5/10|c.352A>G||||||
22	42463813	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/9|c.280G>A|p.Asp94Asn|813/3694|280/1236|94/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/10|c.280G>A|p.Asp94Asn|417/1856|280/1236|94/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/10|c.280G>A|p.Asp94Asn|436/1869|280/1236|94/411||
22	42463897	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000396398|protein_coding|3/9|c.196G>A|p.Gly66Arg|729/3694|196/1236|66/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000403363|protein_coding|4/10|c.196G>A|p.Gly66Arg|333/1856|196/1236|66/411||,T|missense_variant|MODERATE|NAGA|ENSG00000198951|transcript|ENST00000402937|protein_coding|4/10|c.196G>A|p.Gly66Arg|352/1869|196/1236|66/411||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|3/10|c.196G>A||||||,T|sequence_feature|LOW|NAGA|ENSG00000198951|disulfide_bond|ENST00000403363|protein_coding|4/10|c.196G>A||||||
22	42473509	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.212G>A|p.Gly71Asp|399/2335|212/780|71/259||,A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.212G>A|p.Gly71Asp|424/537|212/325|71/107||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.212G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1344|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||2190|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||2186|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||2195|
22	42473586	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.289C>T|p.Arg97Cys|476/2335|289/780|97/259||,T|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding|3/3|c.289C>T|p.Arg97Cys|501/537|289/325|97/107||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FAM109B|ENSG00000177096|domain:PH|ENST00000321753|protein_coding|3/3|c.289C>T||||||,T|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>A|||||1421|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>T|||||2113|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>T|||||2109|,T|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>T|||||2118|
22	42473671	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.374G>A|p.Arg125His|561/2335|374/780|125/259||,A|sequence_feature|LOW|FAM109B|ENSG00000177096|coiled-coil_region|ENST00000321753|protein_coding|3/3|c.374G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1506|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||2028|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||2024|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||2033|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||49|WARNING_TRANSCRIPT_INCOMPLETE
22	42473683	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.386G>A|p.Arg129His|573/2335|386/780|129/259||,A|sequence_feature|LOW|FAM109B|ENSG00000177096|coiled-coil_region|ENST00000321753|protein_coding|3/3|c.386G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1518|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||2016|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||2012|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||2021|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||61|WARNING_TRANSCRIPT_INCOMPLETE
22	42473860	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.563C>G|p.Ala188Gly|750/2335|563/780|188/259||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1G>C|||||1695|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75C>G|||||1839|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79C>G|||||1835|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1C>G|||||1844|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537C>G|||||238|WARNING_TRANSCRIPT_INCOMPLETE
22	42473883	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.586G>A|p.Gly196Arg|773/2335|586/780|196/259||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||1718|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75G>A|||||1816|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79G>A|||||1812|,A|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1G>A|||||1821|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||261|WARNING_TRANSCRIPT_INCOMPLETE
22	42474068	.	T	G	.	.	ANN=G|missense_variant|MODERATE|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding|3/3|c.771T>G|p.Asp257Glu|958/2335|771/780|257/259||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1A>C|||||1903|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.-75T>G|||||1631|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.-79T>G|||||1627|,G|upstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.-1T>G|||||1636|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537T>G|||||446|WARNING_TRANSCRIPT_INCOMPLETE
22	42475860	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/3|c.88G>A|p.Asp30Asn|162/1567|88/324|30/107||,A|sequence_feature|LOW|SMDT1|ENSG00000183172|transit_peptide:Mitochondrion|ENST00000331479|protein_coding|1/3|c.88G>A||||||,A|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1C>T|||||3695|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967G>A|||||415|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>A|||||2238|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/3|n.88G>A||||||,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/2|n.157G>A||||||
22	42475948	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|1/3|c.176A>G|p.Lys59Arg|250/1567|176/324|59/107||,G|upstream_gene_variant|MODIFIER|snoU13|ENSG00000238498|transcript|ENST00000458891|snoRNA||n.-1T>C|||||3783|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967A>G|||||503|,G|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537A>G|||||2326|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|1/2|n.137+39A>G||||||,G|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|1/2|n.245A>G||||||
22	42477935	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|2/3|c.193T>A|p.Phe65Ile|267/1567|193/324|65/107||,A|sequence_feature|LOW|SMDT1|ENSG00000183172|transmembrane_region:Transmembrane_region|ENST00000331479|protein_coding|2/3|c.193T>A||||||,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967T>A|||||2490|,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598A>T|||||3594|,A|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537T>A|||||4313|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422A>T|||||3594|,A|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408A>T|||||4185|,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.144T>A||||||,A|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|2/2|n.262T>A||||||
22	42478045	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding|2/3|c.303G>C|p.Glu101Asp|377/1567|303/324|101/107||,C|sequence_feature|LOW|SMDT1|ENSG00000183172|compositionally_biased_region:Asp/Glu-rich|ENST00000331479|protein_coding|2/3|c.303G>C||||||,C|3_prime_UTR_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.*80G>C|||||80|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000321753|protein_coding||c.*967G>C|||||2600|,C|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding||c.*598C>G|||||3484|,C|downstream_gene_variant|MODIFIER|FAM109B|ENSG00000177096|transcript|ENST00000419475|protein_coding||c.*537G>C|||||4423|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.*422C>G|||||3484|,C|downstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.*408C>G|||||4075|,C|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay|2/3|n.*80G>C||||||,C|non_coding_exon_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron|2/2|n.372G>C||||||
22	42482195	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|3/3|c.457G>A|p.Asp153Asn|590/1256|457/465|153/154||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|3/3|c.379G>A|p.Asp127Asn|414/1080|379/387|127/128||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|2/2|c.208G>A|p.Asp70Asn|400/475|208/216|70/71||,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1C>T|||||4740|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1C>T|||||4765|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1C>T|||||4765|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1C>T|||||4776|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1C>T|||||4776|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398C>T|||||1907|,T|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399G>A|||||3439|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252C>T|||||2838|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556C>T|||||3966|
22	42482252	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|3/3|c.400C>T|p.His134Tyr|533/1256|400/465|134/154||,A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|3/3|c.322C>T|p.His108Tyr|357/1080|322/387|108/128||,A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|2/2|c.151C>T|p.His51Tyr|343/475|151/216|51/71||,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||4683|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||4708|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||4708|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||4719|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||4719|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||4956|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398G>A|||||1964|,A|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399C>T|||||3382|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252G>A|||||2895|,A|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556G>A|||||4023|
22	42483090	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/3|c.307A>G|p.Arg103Gly|440/1256|307/465|103/154||,C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/3|c.229A>G|p.Arg77Gly|264/1080|229/387|77/128||,C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/2|c.58A>G|p.Arg20Gly|250/475|58/216|20/71||,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1T>C|||||3845|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1T>C|||||3870|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1T>C|||||3870|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1T>C|||||3881|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1T>C|||||3881|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1T>C|||||4118|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1T>C|||||4266|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1T>C|||||4316|,C|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398T>C|||||2802|,C|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399A>G|||||2544|,C|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252T>C|||||3733|,C|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556T>C|||||4861|
22	42483134	.	T	G	.	.	ANN=G|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/3|c.263A>C|p.Lys88Thr|396/1256|263/465|88/154||,G|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/3|c.185A>C|p.Lys62Thr|220/1080|185/387|62/128||,G|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/2|c.14A>C|p.Lys5Thr|206/475|14/216|5/71||,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1T>G|||||3801|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1T>G|||||3826|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1T>G|||||3826|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1T>G|||||3837|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1T>G|||||3837|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1T>G|||||4074|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1T>G|||||4222|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1T>G|||||4272|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398T>G|||||2846|,G|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399A>C|||||2500|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252T>G|||||3777|,G|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556T>G|||||4905|
22	42483169	.	G	T	.	.	ANN=T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|2/3|c.228C>A|p.Phe76Leu|361/1256|228/465|76/154||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|2/3|c.150C>A|p.Phe50Leu|185/1080|150/387|50/128||,T|5_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding|1/2|c.-22C>A|||||22|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>T|||||3766|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>T|||||3791|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>T|||||3791|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>T|||||3802|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>T|||||3802|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>T|||||4039|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>T|||||4187|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>T|||||4237|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000331479|protein_coding||c.*398G>T|||||2881|,T|downstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.*399C>A|||||2465|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000422252|nonsense_mediated_decay||n.*252G>T|||||3812|,T|downstream_gene_variant|MODIFIER|SMDT1|ENSG00000183172|transcript|ENST00000484235|retained_intron||n.*556G>T|||||4940|
22	42486723	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.104C>T|p.Ala35Val|237/1256|104/465|35/154||,A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.26C>T|p.Ala9Val|61/1080|26/387|9/128||,A|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1C>T|||||691|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||212|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193C>T|||||3384|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||237|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||237|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||248|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||248|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||485|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>A|||||633|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>A|||||683|
22	42486742	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.85G>A|p.Gly29Arg|218/1256|85/465|29/154||,T|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.7G>A|p.Gly3Arg|42/1080|7/387|3/128||,T|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1G>A|||||710|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1C>T|||||193|,T|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193G>A|||||3403|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1C>T|||||218|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1C>T|||||218|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1C>T|||||229|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1C>T|||||229|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1C>T|||||466|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1C>T|||||614|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1C>T|||||664|
22	42486755	.	A	C	.	.	ANN=C|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.72T>G|p.Phe24Leu|205/1256|72/465|24/154||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.-7T>G||||||,C|5_prime_UTR_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding|1/3|c.-7T>G|||||7|,C|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1T>G|||||723|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1A>C|||||180|,C|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193T>G|||||3416|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1A>C|||||205|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1A>C|||||205|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1A>C|||||216|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1A>C|||||216|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1A>C|||||453|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1A>C|||||601|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1A>C|||||651|
22	42486789	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NDUFA6|ENSG00000184983|transcript|ENST00000498737|protein_coding|1/3|c.38C>T|p.Ala13Val|171/1256|38/465|13/154||,A|upstream_gene_variant|MODIFIER|RP1-257I20.14|ENSG00000270083|transcript|ENST00000602718|sense_intronic||n.-1C>T|||||757|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense||n.-1G>A|||||146|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000602404|protein_coding||c.-36C>T|||||6|,A|upstream_gene_variant|MODIFIER|NDUFA6|ENSG00000184983|transcript|ENST00000470753|protein_coding||c.-193C>T|||||3450|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.-1G>A|||||171|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense||n.-1G>A|||||171|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608974|antisense||n.-1G>A|||||182|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.-1G>A|||||182|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.-1G>A|||||419|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.-1G>A|||||567|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.-1G>A|||||617|
22	42522613	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|9/9|c.1457C>G|p.Thr486Ser|1572/1684|1457/1494|486/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|10/10|c.1457C>G|p.Thr486Ser|1547/1657|1457/1494|486/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|8/8|c.1304C>G|p.Thr435Ser|1378/1433|1304/1341|435/446||,C|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|7/7|n.*532C>G|||||1291|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>C|||||1259|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>C|||||1649|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>C|||||1649|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>C|||||1649|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>C|||||1606|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>C|||||1709|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>C|||||1724|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>C|||||1580|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+1201G>C||||||,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+2046G>C||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|7/7|n.*532C>G||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|8/8|n.2181C>G||||||
22	42523871	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|6/9|c.958C>T|p.Leu320Phe|1073/1684|958/1494|320/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|7/10|c.958C>T|p.Leu320Phe|1048/1657|958/1494|320/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|5/8|c.805C>T|p.Leu269Phe|879/1433|805/1341|269/446||,A|3_prime_UTR_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*33C>T|||||33|,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||4679|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||4162|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||4162|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||2517|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||2907|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||2907|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||2907|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||2864|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||2967|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||2982|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||2838|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2459G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3304G>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|4/7|n.*33C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|5/8|n.1682C>T||||||
22	42524322	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|5/9|c.697A>C|p.Ile233Leu|812/1684|697/1494|233/497||,G|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|6/10|c.697A>C|p.Ile233Leu|787/1657|697/1494|233/497||,G|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|4/8|c.544A>C|p.Ile182Leu|618/1433|544/1341|182/446||,G|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1T>G|||||4228|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1T>G|||||3711|,G|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1T>G|||||3711|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521T>G|||||2968|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774T>G|||||3358|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833T>G|||||3358|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662T>G|||||3358|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568T>G|||||3315|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286T>G|||||3418|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877T>G|||||3433|,G|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594T>G|||||3289|,G|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+2910T>G||||||,G|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+3755T>G||||||,G|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|3/7|n.364A>C||||||,G|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|4/8|n.1421A>C||||||
22	42525046	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|3/9|c.494C>T|p.Ala165Val|609/1684|494/1494|165/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|4/10|c.494C>T|p.Ala165Val|584/1657|494/1494|165/497||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||3504|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||2987|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||2987|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||3692|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||4082|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||4082|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||4082|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||4039|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||4142|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||4157|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||4013|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+3634G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+4479G>A||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/6|n.173-100C>T||||||,A|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/7|c.353-100C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|2/8|n.1218C>T||||||
22	42525134	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|3/9|c.406G>A|p.Val136Ile|521/1684|406/1494|136/497||,T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|4/10|c.406G>A|p.Val136Ile|496/1657|406/1494|136/497||,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||3416|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||2899|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||2899|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521C>T|||||3780|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774C>T|||||4170|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833C>T|||||4170|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662C>T|||||4170|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568C>T|||||4127|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286C>T|||||4230|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877C>T|||||4245|,T|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594C>T|||||4101|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+3722C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+4567C>T||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/6|n.173-188G>A||||||,T|intron_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/7|c.353-188G>A||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|2/8|n.1130G>A||||||
22	42525772	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|2/9|c.320C>T|p.Thr107Ile|435/1684|320/1494|107/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|2/10|c.320C>T|p.Thr107Ile|410/1657|320/1494|107/497||,A|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/8|c.320C>T|p.Thr107Ile|394/1433|320/1341|107/446||,A|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>A|||||2778|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>A|||||2261|,A|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>A|||||2261|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>A|||||4418|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>A|||||4808|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>A|||||4808|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>A|||||4808|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>A|||||4765|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>A|||||4868|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>A|||||4883|,A|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>A|||||4739|,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+4360G>A||||||,A|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+5205G>A||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/7|n.140C>T||||||,A|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.1044C>T||||||
22	42525801	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|2/9|c.291C>G|p.Asp97Glu|406/1684|291/1494|97/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|2/10|c.291C>G|p.Asp97Glu|381/1657|291/1494|97/497||,C|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|2/8|c.291C>G|p.Asp97Glu|365/1433|291/1341|97/446||,C|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1G>C|||||2749|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1G>C|||||2232|,C|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1G>C|||||2232|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000417327|antisense||n.*1521G>C|||||4447|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000536447|antisense||n.*774G>C|||||4837|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000595777|antisense||n.*833G>C|||||4837|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000600968|antisense||n.*662G>C|||||4837|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000434834|antisense||n.*568G>C|||||4794|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000610250|antisense||n.*389G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000547929|retained_intron||n.*708G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609499|retained_intron||n.*364G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000609833|retained_intron||n.*286G>C|||||4897|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608643|retained_intron||n.*877G>C|||||4912|,C|downstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000451451|antisense||n.*594G>C|||||4768|,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+4389G>C||||||,C|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+5234G>C||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay|1/7|n.111C>G||||||,C|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.1015C>G||||||
22	42526763	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000360608|protein_coding|1/9|c.31G>A|p.Val11Met|146/1684|31/1494|11/497||,T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000389970|protein_coding|1/10|c.31G>A|p.Val11Met|121/1657|31/1494|11/497||,T|missense_variant|MODERATE|CYP2D6|ENSG00000100197|transcript|ENST00000359033|protein_coding|1/8|c.31G>A|p.Val11Met|105/1433|31/1341|11/446||,T|upstream_gene_variant|MODIFIER|RP4-669P10.19|ENSG00000227370|transcript|ENST00000417586|processed_pseudogene||n.-1C>T|||||1787|,T|upstream_gene_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000360124|nonsense_mediated_decay||n.-1G>A|||||852|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608288|antisense||n.-1C>T|||||1270|,T|upstream_gene_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000608491|antisense||n.-1C>T|||||1270|,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000416037|antisense|5/6|n.1718+5351C>T||||||,T|intron_variant|MODIFIER|NDUFA6-AS1|ENSG00000237037|transcript|ENST00000439129|antisense|3/3|n.1046+6196C>T||||||,T|non_coding_exon_variant|MODIFIER|CYP2D6|ENSG00000100197|transcript|ENST00000488442|retained_intron|1/8|n.53G>A||||||
22	42564718	.	G	A,C,T	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5824C>T|p.Pro1942Ser|5961/7410|5824/5883|1942/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5824C>G|p.Pro1942Ala|5961/7410|5824/5883|1942/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5824C>A|p.Pro1942Thr|5961/7410|5824/5883|1942/1960||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1135C>T||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1135C>G||||||,T|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1135C>A||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-9C>T||||||,C|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-9C>G||||||,T|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-9C>A||||||
22	42564732	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|4/5|c.5810C>T|p.Pro1937Leu|5947/7410|5810/5883|1937/1960||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|3/3|c.5799+1121C>T||||||,A|intron_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|3/4|c.703-23C>T||||||
22	42575632	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|2/5|c.5732C>T|p.Pro1911Leu|5869/7410|5732/5883|1911/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|2/4|c.5732C>T|p.Pro1911Leu|5867/6237|5732/5817|1911/1938||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|2/5|c.635C>T|p.Pro212Leu|635/1058|635/753|212/250||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5732C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5732C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5732C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5732C>T||||||
22	42575687	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|2/5|c.5677G>A|p.Ala1893Thr|5814/7410|5677/5883|1893/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|2/4|c.5677G>A|p.Ala1893Thr|5812/6237|5677/5817|1893/1938||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|2/5|c.580G>A|p.Ala194Thr|580/1058|580/753|194/250||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|4/5|c.5677G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|3/5|c.5677G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|2/5|c.5677G>A||||||,T|sequence_feature|LOW|TCF20|ENSG00000100207|zinc_finger_region:PHD-type|ENST00000359486|protein_coding|1/5|c.5677G>A||||||
22	42605724	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5588A>G|p.Asn1863Ser|5725/7410|5588/5883|1863/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5588A>G|p.Asn1863Ser|5723/6237|5588/5817|1863/1938||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/5|c.491A>G|p.Asn164Ser|491/1058|491/753|164/250||
22	42605821	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5491A>G|p.Thr1831Ala|5628/7410|5491/5883|1831/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5491A>G|p.Thr1831Ala|5626/6237|5491/5817|1831/1938||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/5|c.394A>G|p.Thr132Ala|394/1058|394/753|132/250||
22	42605878	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.5434G>A|p.Ala1812Thr|5571/7410|5434/5883|1812/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.5434G>A|p.Ala1812Thr|5569/6237|5434/5817|1812/1938||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding|1/5|c.337G>A|p.Ala113Thr|337/1058|337/753|113/250||,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||4975|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42606744	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4568C>T|p.Pro1523Leu|4705/7410|4568/5883|1523/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4568C>T|p.Pro1523Leu|4703/6237|4568/5817|1523/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||530|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||4109|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42607071	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4241C>T|p.Ser1414Leu|4378/7410|4241/5883|1414/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4241C>T|p.Ser1414Leu|4376/6237|4241/5817|1414/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||857|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||3782|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42607194	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.4118C>T|p.Ala1373Val|4255/7410|4118/5883|1373/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.4118C>T|p.Ala1373Val|4253/6237|4118/5817|1373/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||980|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||3659|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42607338	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3974G>A|p.Ser1325Asn|4111/7410|3974/5883|1325/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3974G>A|p.Ser1325Asn|4109/6237|3974/5817|1325/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||1124|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||3515|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42607690	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3622A>G|p.Ser1208Gly|3759/7410|3622/5883|1208/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3622A>G|p.Ser1208Gly|3757/6237|3622/5817|1208/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||1476|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||3163|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42607817	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3495G>A|p.Met1165Ile|3632/7410|3495/5883|1165/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3495G>A|p.Met1165Ile|3630/6237|3495/5817|1165/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||1603|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||3036|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42607947	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3365G>C|p.Ser1122Thr|3502/7410|3365/5883|1122/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3365G>C|p.Ser1122Thr|3500/6237|3365/5817|1122/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>C|||||1733|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>C|||||2906|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42608203	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3109A>G|p.Met1037Val|3246/7410|3109/5883|1037/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3109A>G|p.Met1037Val|3244/6237|3109/5817|1037/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||1989|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||2650|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42608238	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.3074G>T|p.Gly1025Val|3211/7410|3074/5883|1025/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.3074G>T|p.Gly1025Val|3209/6237|3074/5817|1025/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>T|||||2024|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>T|||||2615|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42608314	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2998G>C|p.Gly1000Arg|3135/7410|2998/5883|1000/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2998G>C|p.Gly1000Arg|3133/6237|2998/5817|1000/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>C|||||2100|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>C|||||2539|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42608515	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2797T>C|p.Phe933Leu|2934/7410|2797/5883|933/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2797T>C|p.Phe933Leu|2932/6237|2797/5817|933/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||2301|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>C|||||2338|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42608568	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2744T>G|p.Val915Gly|2881/7410|2744/5883|915/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2744T>G|p.Val915Gly|2879/6237|2744/5817|915/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>G|||||2354|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633T>G|||||2285|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42608574	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2738G>A|p.Gly913Asp|2875/7410|2738/5883|913/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2738G>A|p.Gly913Asp|2873/6237|2738/5817|913/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||2360|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>A|||||2279|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42609148	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2164A>G|p.Ser722Gly|2301/7410|2164/5883|722/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2164A>G|p.Ser722Gly|2299/6237|2164/5817|722/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||2934|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||1705|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42609249	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.2063C>T|p.Ala688Val|2200/7410|2063/5883|688/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.2063C>T|p.Ala688Val|2198/6237|2063/5817|688/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||3035|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||1604|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42609579	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1733G>C|p.Arg578Thr|1870/7410|1733/5883|578/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1733G>C|p.Arg578Thr|1868/6237|1733/5817|578/1938||,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>C|||||3365|,G|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633G>C|||||1274|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42609858	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1454C>A|p.Thr485Asn|1591/7410|1454/5883|485/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1454C>A|p.Thr485Asn|1589/6237|1454/5817|485/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>A|||||3644|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>A|||||995|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42609871	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1441C>T|p.Pro481Ser|1578/7410|1441/5883|481/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1441C>T|p.Pro481Ser|1576/6237|1441/5817|481/1938||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||3657|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||982|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42610099	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.1213A>G|p.Met405Val|1350/7410|1213/5883|405/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.1213A>G|p.Met405Val|1348/6237|1213/5817|405/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1A>G|||||3885|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633A>G|||||754|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42610336	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.976C>G|p.Gln326Glu|1113/7410|976/5883|326/1960||,C|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.976C>G|p.Gln326Glu|1111/6237|976/5817|326/1938||,C|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>G|||||4122|,C|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>G|||||517|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42610653	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.659C>T|p.Ser220Phe|796/7410|659/5883|220/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.659C>T|p.Ser220Phe|794/6237|659/5817|220/1938||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000359486|protein_coding|1/5|c.659C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Ser-rich|ENST00000335626|protein_coding|1/4|c.659C>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4439|,A|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>T|||||200|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42610728	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.584C>A|p.Pro195Gln|721/7410|584/5883|195/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.584C>A|p.Pro195Gln|719/6237|584/5817|195/1938||,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>A|||||4514|,T|downstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding||c.*633C>A|||||125|WARNING_TRANSCRIPT_NO_STOP_CODON
22	42610968	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.344T>C|p.Val115Ala|481/7410|344/5883|115/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.344T>C|p.Val115Ala|479/6237|344/5817|115/1938||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.344T>C|p.Val115Ala|518/633|344/459|115/152||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1T>C|||||4754|
22	42611053	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.259G>A|p.Gly87Arg|396/7410|259/5883|87/1960||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.259G>A|p.Gly87Arg|394/6237|259/5817|87/1938||,T|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.259G>A|p.Gly87Arg|433/633|259/459|87/152||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>A|||||4839|
22	42611113	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.199G>T|p.Ala67Ser|336/7410|199/5883|67/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.199G>T|p.Ala67Ser|334/6237|199/5817|67/1938||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.199G>T|p.Ala67Ser|373/633|199/459|67/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000359486|protein_coding|1/5|c.199G>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000335626|protein_coding|1/4|c.199G>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1G>T|||||4899|
22	42611115	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.197C>T|p.Ala66Val|334/7410|197/5883|66/1960||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.197C>T|p.Ala66Val|332/6237|197/5817|66/1938||,A|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.197C>T|p.Ala66Val|371/633|197/459|66/152||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000359486|protein_coding|1/5|c.197C>T||||||,A|sequence_feature|LOW|TCF20|ENSG00000100207|compositionally_biased_region:Poly-Ala|ENST00000335626|protein_coding|1/4|c.197C>T||||||,A|upstream_gene_variant|MODIFIER|TCF20|ENSG00000100207|transcript|ENST00000404876|protein_coding||c.-1C>T|||||4901|
22	42611265	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000359486|protein_coding|1/5|c.47G>C|p.Ser16Thr|184/7410|47/5883|16/1960||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000335626|protein_coding|1/4|c.47G>C|p.Ser16Thr|182/6237|47/5817|16/1938||,G|missense_variant|MODERATE|TCF20|ENSG00000100207|transcript|ENST00000515426|protein_coding|2/2|c.47G>C|p.Ser16Thr|221/633|47/459|16/152||WARNING_TRANSCRIPT_NO_STOP_CODON
22	42781198	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.782G>C|p.Gly261Ala|820/5602|782/813|261/270||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.782G>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.782G>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.782G>C||||||,G|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.782G>C||||||
22	42781208	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.772G>A|p.Glu258Lys|810/5602|772/813|258/270||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.772G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.772G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.772G>A||||||,T|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.772G>A||||||
22	42781219	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|6/6|c.761C>T|p.Pro254Leu|799/5602|761/813|254/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.761C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.761C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.761C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.761C>T||||||
22	42805444	.	G	C	.	.	ANN=C|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|3/6|c.561C>G|p.Asn187Lys|599/5602|561/813|187/270||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|4/6|c.561C>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|6/6|c.561C>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|3/6|c.561C>G||||||,C|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Cytoplasmic|ENST00000329021|protein_coding|5/6|c.561C>G||||||,C|downstream_gene_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay||n.*500C>G|||||839|
22	42807455	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NFAM1|ENSG00000235568|transcript|ENST00000329021|protein_coding|2/6|c.409C>T|p.His137Tyr|447/5602|409/813|137/270||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|3/6|c.409C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|topological_domain:Extracellular|ENST00000329021|protein_coding|2/6|c.409C>T||||||,A|sequence_feature|LOW|NFAM1|ENSG00000235568|domain:Ig-like_V-type|ENST00000329021|protein_coding|2/6|c.409C>T||||||,A|non_coding_exon_variant|MODIFIER|NFAM1|ENSG00000235568|transcript|ENST00000355469|nonsense_mediated_decay|2/3|n.409C>T||||||
22	42910142	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|6/7|c.727G>A|p.Ala243Thr|743/3801|727/843|243/280||,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>T|||||1577|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>T|||||1576|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000421475|processed_transcript||n.*684C>T|||||3484|,T|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay||n.*170G>A|||||541|,T|downstream_gene_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron||n.*580G>A|||||1065|
22	42912024	.	G	A	.	.	ANN=A|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.335C>T|p.Pro112Leu|351/3801|335/843|112/280||,A|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*289C>T|||||2622|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712G>A|||||3459|,A|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346G>A|||||3458|,A|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*289C>T||||||,A|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.505C>T||||||
22	42912097	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.262G>A|p.Val88Ile|278/3801|262/843|88/280||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.262G>A||||||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.262G>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*216G>A|||||2549|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>T|||||3532|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>T|||||3531|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*216G>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.432G>A||||||
22	42912106	.	C	T	.	.	ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.253G>A|p.Val85Ile|269/3801|253/843|85/280||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.253G>A||||||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.253G>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*207G>A|||||2540|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712C>T|||||3541|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346C>T|||||3540|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*207G>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.423G>A||||||
22	42912136	.	G	T	.	.	ANN=T|missense_variant|MODERATE|RRP7A|ENSG00000189306|transcript|ENST00000323013|protein_coding|3/7|c.223C>A|p.Leu75Met|239/3801|223/843|75/280||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|3/7|c.223C>A||||||,T|sequence_feature|LOW|RRP7A|ENSG00000189306|domain:RRM|ENST00000323013|protein_coding|2/7|c.223C>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*177C>A|||||2510|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000455578|retained_intron||n.*1712G>T|||||3571|,T|downstream_gene_variant|MODIFIER|SERHL|ENSG00000172250|transcript|ENST00000359906|antisense||n.*1346G>T|||||3570|,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000416699|nonsense_mediated_decay|4/6|n.*177C>A||||||,T|non_coding_exon_variant|MODIFIER|RRP7A|ENSG00000189306|transcript|ENST00000483303|retained_intron|3/4|n.393C>A||||||
22	42950033	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|1/12|c.7G>A|p.Glu3Lys|109/1374|7/945|3/314||,A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|1/10|c.7G>A|p.Glu3Lys|109/1259|7/612|3/203||,A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|1/7|c.7G>A|p.Glu3Lys|13/521|7/405|3/134||,A|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|1/10|c.7G>A|p.Glu3Lys|7/753|7/753|3/250||,A|upstream_gene_variant|MODIFIER|Z93241.1|ENSG00000265106|transcript|ENST00000580472|miRNA||n.-1C>T|||||1754|,A|upstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.-1G>A|||||882|,A|downstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.*2375C>T|||||1196|,A|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding|1/6|c.-168+314G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|1/11|n.7G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|1/10|n.143G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|1/11|n.7G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|1/10|n.93G>A||||||
22	42956211	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|8/12|c.553C>T|p.His185Tyr|655/1374|553/945|185/314||,T|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|6/10|c.361C>T|p.His121Tyr|361/753|361/753|121/250||,T|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*173C>T|||||3660|,T|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283G>A|||||4843|,T|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563C>T|||||1793|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596C>T|||||4239|,T|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3531G>A||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1748C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1748C>T||||||,T|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.37-24C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/11|n.553C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|7/10|n.647C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*173C>T||||||
22	42956224	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000327678|protein_coding|8/12|c.566A>C|p.Glu189Ala|668/1374|566/945|189/314||,C|missense_variant|MODERATE|SERHL2|ENSG00000183569|transcript|ENST00000335879|protein_coding|6/10|c.374A>C|p.Glu125Ala|374/753|374/753|125/250||,C|3_prime_UTR_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*186A>C|||||3673|,C|downstream_gene_variant|MODIFIER|RN7SKP80|ENSG00000202058|transcript|ENST00000365188|misc_RNA||n.*283T>G|||||4830|,C|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000447870|protein_coding||c.*563A>C|||||1806|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000472589|retained_intron||n.*596A>C|||||4252|,C|intron_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript|7/7|n.924-3544T>G||||||,C|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000340239|protein_coding|7/9|c.533+1761A>C||||||,C|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000527167|retained_intron|6/9|n.977+1761A>C||||||,C|intron_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000407614|protein_coding|2/6|c.37-11A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000477564|nonsense_mediated_decay|8/11|n.566A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000534080|retained_intron|7/10|n.660A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|ENSG00000183569|transcript|ENST00000416156|nonsense_mediated_decay|8/11|n.*186A>C||||||
22	42981840	.	G	A	.	.	ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.1223C>T|p.Ala408Val|1328/3441|1223/1266|408/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.1136C>T|p.Ala379Val|1210/3323|1136/1179|379/392||,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*366C>T|||||9737|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*127C>T|||||127|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1C>T|||||3796|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1C>T|||||3825|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1C>T|||||3823|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1C>T|||||3833|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1C>T|||||3837|,A|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.*1028C>T|||||53|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-518C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*366C>T||||||
22	42981961	.	T	A	.	.	ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|9/9|c.1102A>T|p.Ser368Cys|1207/3441|1102/1266|368/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|8/8|c.1015A>T|p.Ser339Cys|1089/3323|1015/1179|339/392||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000252115|protein_coding|9/9|c.1102A>T||||||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000348657|protein_coding|8/8|c.1015A>T||||||,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*245A>T|||||9616|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|7/7|c.*6A>T|||||6|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000357802|processed_transcript||n.-1A>T|||||3917|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000437211|processed_transcript||n.-1A>T|||||3946|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000458605|processed_transcript||n.-1A>T|||||3944|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000566851|transcribed_unprocessed_pseudogene||n.-1A>T|||||3954|,A|upstream_gene_variant|MODIFIER|RRP7B|ENSG00000182841|transcript|ENST00000421116|processed_transcript||n.-1A>T|||||3958|,A|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-639A>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|9/9|n.*245A>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|9/9|n.960A>T||||||
22	42983560	.	T	C	.	.	ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|8/9|c.1040A>G|p.Asn347Ser|1145/3441|1040/1266|347/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|7/8|c.953A>G|p.Asn318Ser|1027/3323|953/1179|318/392||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|6/9|c.1040A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|7/9|c.1040A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000252115|protein_coding|8/9|c.1040A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|5/8|c.953A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|6/8|c.953A>G||||||,C|sequence_feature|LOW|POLDIP3|ENSG00000100227|domain:RRM|ENST00000348657|protein_coding|7/8|c.953A>G||||||,C|3_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/9|n.*183A>G|||||8017|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.451-2238A>G||||||,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|6/6|c.554-1586A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|8/9|n.*183A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|8/9|n.898A>G||||||
22	42992251	.	T	C	.	.	ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|5/9|c.754A>G|p.Asn252Asp|859/3441|754/1266|252/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|4/8|c.667A>G|p.Asn223Asp|741/3323|667/1179|223/392||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|4/7|c.286A>G|p.Asn96Asp|552/1351|286/561|96/186||,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573A>G|||||1463|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6525A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|5/9|n.754A>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|5/9|n.612A>G||||||
22	42992275	.	A	C	.	.	ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|5/9|c.730T>G|p.Ser244Ala|835/3441|730/1266|244/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|4/8|c.643T>G|p.Ser215Ala|717/3323|643/1179|215/392||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|4/7|c.262T>G|p.Ser88Ala|528/1351|262/561|88/186||,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.*573T>G|||||1439|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+6501T>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|5/9|n.730T>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|5/9|n.588T>G||||||
22	42995724	.	C	T	.	.	ANN=T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/9|c.613G>A|p.Gly205Ser|718/3441|613/1266|205/421||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/8|c.526G>A|p.Gly176Ser|600/3323|526/1179|176/392||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/7|c.145G>A|p.Gly49Ser|411/1351|145/561|49/186||,T|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563G>A|||||3050|,T|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+3052G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/9|n.613G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|3/9|n.406G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|3/4|n.526G>A||||||
22	42995754	.	G	C	.	.	ANN=C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|4/9|c.583C>G|p.Pro195Ala|688/3441|583/1266|195/421||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|3/8|c.496C>G|p.Pro166Ala|570/3323|496/1179|166/392||,C|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|3/7|c.115C>G|p.Pro39Ala|381/1351|115/561|39/186||,C|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563C>G|||||3020|,C|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+3022C>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|4/9|n.583C>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|3/9|n.376C>G||||||,C|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|3/4|n.496C>G||||||
22	42998007	.	A	G	.	.	ANN=G|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|3/9|c.506T>C|p.Ile169Thr|611/3441|506/1266|169/421||,G|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|2/7|c.38T>C|p.Ile13Thr|304/1351|38/561|13/186||,G|downstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.*563T>C|||||767|,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/7|c.450+769T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/2|c.450+769T>C||||||,G|intron_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/3|n.450+769T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|3/9|n.506T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|2/9|n.299T>C||||||
22	42998846	.	G	A	.	.	ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/9|c.380C>T|p.Ser127Phe|485/3441|380/1266|127/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/8|c.380C>T|p.Ser127Phe|454/3323|380/1179|127/392||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/3|c.380C>T|p.Ser127Phe|380/783|380/558|127/185||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000252115|protein_coding|2/9|c.380C>T||||||,A|sequence_feature|MODERATE|POLDIP3|ENSG00000100227|amino_acid_modification:Phosphoserine|ENST00000348657|protein_coding|2/8|c.380C>T||||||,A|5_prime_UTR_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding|1/7|c.-140C>T|||||802|,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/9|n.380C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript|1/9|n.173C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/4|n.380C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|3/3|n.491C>T||||||
22	42999138	.	C	T	.	.	ANN=T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|2/9|c.88G>A|p.Val30Ile|193/3441|88/1266|30/421||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|2/8|c.88G>A|p.Val30Ile|162/3323|88/1179|30/392||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|2/3|c.88G>A|p.Val30Ile|88/783|88/558|30/185||,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000451060|protein_coding||c.-267G>A|||||166|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000491021|processed_transcript||n.-1G>A|||||120|,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|2/9|n.88G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|2/4|n.88G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|3/3|n.199G>A||||||
22	43010817	.	G	A	.	.	ANN=A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.47C>T|p.Ala16Val|152/3441|47/1266|16/421||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.47C>T|p.Ala16Val|121/3323|47/1179|16/392||,A|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|1/3|c.47C>T|p.Ala16Val|47/783|47/558|16/185||,A|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.-1G>A|||||433|,A|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.-1G>A|||||433|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding||c.*1005C>T|||||3029|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding||c.*989C>T|||||3029|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding||c.*1159C>T|||||3997|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding||c.*1222C>T|||||4031|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding||c.*929C>T|||||4042|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.*3938C>T|||||4064|,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding||c.*1021C>T|||||4933|,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|1/9|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|1/4|n.47C>T||||||,A|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|1/3|n.67C>T||||||
22	43010821	.	C	T	.	.	ANN=T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding|1/9|c.43G>A|p.Ala15Thr|148/3441|43/1266|15/421||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding|1/8|c.43G>A|p.Ala15Thr|117/3323|43/1179|15/392||,T|missense_variant|MODERATE|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding|1/3|c.43G>A|p.Ala15Thr|43/783|43/558|15/185||,T|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.-1C>T|||||429|,T|upstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.-1C>T|||||429|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding||c.*1005G>A|||||3025|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding||c.*989G>A|||||3025|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding||c.*1159G>A|||||3993|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding||c.*1222G>A|||||4027|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding||c.*929G>A|||||4038|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.*3938G>A|||||4060|,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding||c.*1021G>A|||||4929|,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay|1/9|n.43G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay|1/4|n.43G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript|1/3|n.63G>A||||||
22	43015787	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|9/9|c.997G>A|p.Val333Ile|997/2938|997/1005|333/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|9/9|c.829G>A|p.Val277Ile|981/2922|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|9/9|c.898G>A|p.Val300Ile|1151/2124|898/906|300/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|9/9|c.829G>A|p.Val277Ile|1214/2153|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|8/8|c.829G>A|p.Val277Ile|921/1849|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|10/10|c.829G>A|p.Val277Ile|1013/1050|829/837|277/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|9/9|c.898G>A||||||,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding||c.-106G>A|||||4819|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay||n.-13G>A|||||4912|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding||c.-75G>A|||||4850|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding||c.-1G>A|||||4924|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.-4G>A|||||4921|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.-1G>A|||||4904|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.*664C>T|||||3874|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.*150C>T|||||4388|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|6/6|n.3032G>A||||||
22	43015795	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|9/9|c.989G>A|p.Arg330His|989/2938|989/1005|330/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|9/9|c.821G>A|p.Arg274His|973/2922|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|9/9|c.890G>A|p.Arg297His|1143/2124|890/906|297/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|9/9|c.821G>A|p.Arg274His|1206/2153|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|8/8|c.821G>A|p.Arg274His|913/1849|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|10/10|c.821G>A|p.Arg274His|1005/1050|821/837|274/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|9/9|c.890G>A||||||,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000252115|protein_coding||c.-106G>A|||||4827|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000445215|nonsense_mediated_decay||n.-13G>A|||||4920|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000348657|protein_coding||c.-75G>A|||||4858|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000339677|protein_coding||c.-1G>A|||||4932|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000454057|nonsense_mediated_decay||n.-4G>A|||||4929|,T|upstream_gene_variant|MODIFIER|POLDIP3|ENSG00000100227|transcript|ENST00000463133|processed_transcript||n.-1G>A|||||4912|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000602478|lincRNA||n.*664C>T|||||3882|,T|downstream_gene_variant|MODIFIER|RNU12|ENSG00000270022|transcript|ENST00000362512|snRNA||n.*150C>T|||||4396|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|6/6|n.3024G>A||||||
22	43019843	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|8/9|c.784C>T|p.His262Tyr|784/2938|784/1005|262/334||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|8/9|c.616C>T|p.His206Tyr|768/2922|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|8/9|c.685C>T|p.His229Tyr|938/2124|685/906|229/301||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|8/9|c.616C>T|p.His206Tyr|1001/2153|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|7/8|c.616C>T|p.His206Tyr|708/1849|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|9/10|c.616C>T|p.His206Tyr|800/1050|616/837|206/278||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>T|||||3804|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|5/6|n.2819C>T||||||
22	43023368	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|7/9|c.674G>A|p.Arg225His|674/2938|674/1005|225/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|7/9|c.506G>A|p.Arg169His|658/2922|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|7/9|c.575G>A|p.Arg192His|828/2124|575/906|192/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|7/9|c.506G>A|p.Arg169His|891/2153|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|6/8|c.506G>A|p.Arg169His|598/1849|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|8/10|c.506G>A|p.Arg169His|690/1050|506/837|169/278||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.575G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.575G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|helix|ENST00000352397|protein_coding|7/9|c.575G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675G>A|||||279|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||3679|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|4/6|n.2709G>A||||||
22	43023622	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|6/9|c.635C>T|p.Ala212Val|635/2938|635/1005|212/334||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|6/9|c.467C>T|p.Ala156Val|619/2922|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|6/9|c.536C>T|p.Ala179Val|789/2124|536/906|179/301||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|6/9|c.467C>T|p.Ala156Val|852/2153|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|5/8|c.467C>T|p.Ala156Val|559/1849|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|7/10|c.467C>T|p.Ala156Val|651/1050|467/837|156/278||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|6/9|c.536C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|7/9|c.536C>T||||||,A|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|6/9|c.536C>T||||||,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding||c.*675C>T|||||25|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>T|||||3425|,A|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|3/6|n.2670C>T||||||
22	43024214	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/9|c.506T>C|p.Ile169Thr|506/2938|506/1005|169/334||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/9|c.338T>C|p.Ile113Thr|490/2922|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/9|c.407T>C|p.Ile136Thr|660/2124|407/906|136/301||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/9|c.338T>C|p.Ile113Thr|723/2153|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/8|c.338T>C|p.Ile113Thr|430/1849|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/10|c.338T>C|p.Ile113Thr|522/1050|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/6|c.338T>C|p.Ile113Thr|571/675|338/442|113/146||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.407T>C||||||,G|sequence_feature|LOW|CYB5R3|ENSG00000100243|nucleotide_phosphate-binding_region:FAD|ENST00000352397|protein_coding|5/9|c.407T>C||||||,G|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581T>C|||||2833|,G|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/6|n.2541T>C||||||
22	43024271	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|5/9|c.449C>G|p.Thr150Ser|449/2938|449/1005|150/334||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|5/9|c.281C>G|p.Thr94Ser|433/2922|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|5/9|c.350C>G|p.Thr117Ser|603/2124|350/906|117/301||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|5/9|c.281C>G|p.Thr94Ser|666/2153|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|4/8|c.281C>G|p.Thr94Ser|373/1849|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|6/10|c.281C>G|p.Thr94Ser|465/1050|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|5/6|c.281C>G|p.Thr94Ser|514/675|281/442|94/146||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.350C>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|5/9|c.350C>G||||||,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581C>G|||||2776|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|2/6|n.2484C>G||||||
22	43026905	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|4/9|c.415G>A|p.Val139Met|415/2938|415/1005|139/334||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|4/9|c.247G>A|p.Val83Met|399/2922|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|4/9|c.316G>A|p.Val106Met|569/2124|316/906|106/301||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|4/9|c.247G>A|p.Val83Met|632/2153|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|3/8|c.247G>A|p.Val83Met|339/1849|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|5/10|c.247G>A|p.Val83Met|431/1050|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|4/6|c.247G>A|p.Val83Met|480/675|247/442|83/146||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.316G>A||||||,T|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|4/9|c.316G>A||||||,T|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581G>A|||||142|,T|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.2450G>A||||||
22	43026908	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|4/9|c.412T>G|p.Phe138Val|412/2938|412/1005|138/334||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|4/9|c.244T>G|p.Phe82Val|396/2922|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|4/9|c.313T>G|p.Phe105Val|566/2124|313/906|105/301||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|4/9|c.244T>G|p.Phe82Val|629/2153|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|3/8|c.244T>G|p.Phe82Val|336/1849|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|5/10|c.244T>G|p.Phe82Val|428/1050|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|4/6|c.244T>G|p.Phe82Val|477/675|244/442|82/146||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|4/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|5/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|2/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|domain:FAD-binding_FR-type|ENST00000352397|protein_coding|3/9|c.313T>G||||||,C|sequence_feature|LOW|CYB5R3|ENSG00000100243|beta_strand|ENST00000352397|protein_coding|4/9|c.313T>G||||||,C|downstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron||n.*581T>G|||||139|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron|1/6|n.2447T>G||||||
22	43032843	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000361740|protein_coding|2/9|c.130A>G|p.Met44Val|130/2938|130/1005|44/334||,C|missense_variant|MODERATE|CYB5R3|ENSG00000100243|transcript|ENST00000352397|protein_coding|2/9|c.31A>G|p.Met11Val|284/2124|31/906|11/301||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.-39A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000396303|protein_coding|2/9|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407623|protein_coding|2/9|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000407332|protein_coding|1/8|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000402438|protein_coding|3/10|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000438270|protein_coding|2/6|c.-39A>G|||||39|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000470741|retained_intron||n.-1A>G|||||3489|,C|downstream_gene_variant|MODIFIER|ATP5L2|ENSG00000249222|transcript|ENST00000505920|protein_coding||c.*630A>G|||||2966|,C|non_coding_exon_variant|MODIFIER|CYB5R3|ENSG00000100243|transcript|ENST00000466276|retained_intron|2/3|n.49A>G||||||
22	43089044	.	G	A	.	.	ANN=A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.914C>T|p.Pro305Leu|1103/2020|914/1062|305/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.914C>T|p.Pro305Leu|1404/2321|914/1062|305/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.914C>T|p.Pro305Leu|1019/1935|914/1062|305/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.914C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||933|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||2133|
22	43089066	.	C	A	.	.	ANN=A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.892G>T|p.Asp298Tyr|1081/2020|892/1062|298/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.892G>T|p.Asp298Tyr|1382/2321|892/1062|298/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.892G>T|p.Asp298Tyr|997/1935|892/1062|298/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.892G>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>T|||||911|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>T|||||2111|
22	43089281	.	C	T	.	.	ANN=T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.677G>A|p.Arg226Gln|866/2020|677/1062|226/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.677G>A|p.Arg226Gln|1167/2321|677/1062|226/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.677G>A|p.Arg226Gln|782/1935|677/1062|226/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.677G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||696|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1896|
22	43089464	.	C	T	.	.	ANN=T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.494G>A|p.Arg165His|683/2020|494/1062|165/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.494G>A|p.Arg165His|984/2321|494/1062|165/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.494G>A|p.Arg165His|599/1935|494/1062|165/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.494G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||513|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1713|
22	43089470	.	T	C	.	.	ANN=C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.488A>G|p.Gln163Arg|677/2020|488/1062|163/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.488A>G|p.Gln163Arg|978/2321|488/1062|163/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.488A>G|p.Gln163Arg|593/1935|488/1062|163/353||,C|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.488A>G||||||,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515A>G|||||507|,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595A>G|||||1707|
22	43089591	.	A	G	.	.	ANN=G|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.367T>C|p.Ser123Pro|556/2020|367/1062|123/353||,G|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.367T>C|p.Ser123Pro|857/2321|367/1062|123/353||,G|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.367T>C|p.Ser123Pro|472/1935|367/1062|123/353||,G|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.367T>C||||||,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515T>C|||||386|,G|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595T>C|||||1586|
22	43089753	.	G	A	.	.	ANN=A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.205C>T|p.Pro69Ser|394/2020|205/1062|69/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.205C>T|p.Pro69Ser|695/2321|205/1062|69/353||,A|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.205C>T|p.Pro69Ser|310/1935|205/1062|69/353||,A|sequence_feature|LOW|A4GALT|ENSG00000128274|topological_domain:Lumenal|ENST00000381278|protein_coding|2/2|c.205C>T||||||,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515C>T|||||224|,A|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595C>T|||||1424|
22	43089849	.	T	C	.	.	ANN=C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.109A>G|p.Met37Val|298/2020|109/1062|37/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.109A>G|p.Met37Val|599/2321|109/1062|37/353||,C|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.109A>G|p.Met37Val|214/1935|109/1062|37/353||,C|sequence_feature|LOW|A4GALT|ENSG00000128274|transmembrane_region:Transmembrane_region|ENST00000381278|protein_coding|2/2|c.109A>G||||||,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515A>G|||||128|,C|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595A>G|||||1328|
22	43089858	.	C	T	.	.	ANN=T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000249005|protein_coding|2/2|c.100G>A|p.Val34Ile|289/2020|100/1062|34/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000401850|protein_coding|2/2|c.100G>A|p.Val34Ile|590/2321|100/1062|34/353||,T|missense_variant|MODERATE|A4GALT|ENSG00000128274|transcript|ENST00000381278|protein_coding|2/2|c.100G>A|p.Val34Ile|205/1935|100/1062|34/353||,T|sequence_feature|LOW|A4GALT|ENSG00000128274|transmembrane_region:Transmembrane_region|ENST00000381278|protein_coding|2/2|c.100G>A||||||,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000483026|processed_transcript||n.*515G>A|||||119|,T|downstream_gene_variant|MODIFIER|A4GALT|ENSG00000128274|transcript|ENST00000465765|processed_transcript||n.*595G>A|||||1319|
22	43195109	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1469A>G|p.Gln490Arg|1689/2857|1469/1551|490/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1253A>G|p.Gln418Arg|1339/1640|1253/1335|418/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1337A>G|p.Gln446Arg|1394/1650|1337/1419|446/472||
22	43195114	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1464C>G|p.Phe488Leu|1684/2857|1464/1551|488/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1248C>G|p.Phe416Leu|1334/1640|1248/1335|416/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1332C>G|p.Phe444Leu|1389/1650|1332/1419|444/472||
22	43195134	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|15/16|c.1444G>A|p.Ala482Thr|1664/2857|1444/1551|482/516||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|13/14|c.1228G>A|p.Ala410Thr|1314/1640|1228/1335|410/444||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|14/15|c.1312G>A|p.Ala438Thr|1369/1650|1312/1419|438/472||
22	43203086	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|14/16|c.1404G>T|p.Gln468His|1624/2857|1404/1551|468/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|12/14|c.1188G>T|p.Gln396His|1274/1640|1188/1335|396/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|13/15|c.1272G>T|p.Gln424His|1329/1650|1272/1419|424/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|8/8|c.810G>T|p.Gln270His|811/817|810/816|270/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43204800	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1293G>A|p.Met431Ile|1513/2857|1293/1551|431/516||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.1077G>A|p.Met359Ile|1163/1640|1077/1335|359/444||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1161G>A|p.Met387Ile|1218/1650|1161/1419|387/472||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.699G>A|p.Met233Ile|700/817|699/816|233/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43204801	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1292T>C|p.Met431Thr|1512/2857|1292/1551|431/516||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.1076T>C|p.Met359Thr|1162/1640|1076/1335|359/444||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1160T>C|p.Met387Thr|1217/1650|1160/1419|387/472||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.698T>C|p.Met233Thr|699/817|698/816|233/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43204882	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|13/16|c.1211G>A|p.Arg404His|1431/2857|1211/1551|404/516||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|11/14|c.995G>A|p.Arg332His|1081/1640|995/1335|332/444||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|12/15|c.1079G>A|p.Arg360His|1136/1650|1079/1419|360/472||,T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|7/8|c.617G>A|p.Arg206His|618/817|617/816|206/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43206882	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|12/16|c.1133A>G|p.Tyr378Cys|1353/2857|1133/1551|378/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|10/14|c.917A>G|p.Tyr306Cys|1003/1640|917/1335|306/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|11/15|c.1001A>G|p.Tyr334Cys|1058/1650|1001/1419|334/472||,C|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/7|c.603-1986A>G||||||WARNING_TRANSCRIPT_NO_START_CODON
22	43213215	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.997A>C|p.Ile333Leu|1217/2857|997/1551|333/516||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.781A>C|p.Ile261Leu|867/1640|781/1335|261/444||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.865A>C|p.Ile289Leu|922/1650|865/1419|289/472||,G|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.535A>C|p.Ile179Leu|536/817|535/816|179/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43213217	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.995C>T|p.Pro332Leu|1215/2857|995/1551|332/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.779C>T|p.Pro260Leu|865/1640|779/1335|260/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.863C>T|p.Pro288Leu|920/1650|863/1419|288/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.533C>T|p.Pro178Leu|534/817|533/816|178/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43213262	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.950C>T|p.Ser317Leu|1170/2857|950/1551|317/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.734C>T|p.Ser245Leu|820/1640|734/1335|245/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.818C>T|p.Ser273Leu|875/1650|818/1419|273/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.488C>T|p.Ser163Leu|489/817|488/816|163/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43213266	.	T	A	.	.	ANN=A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|11/16|c.946A>T|p.Ile316Phe|1166/2857|946/1551|316/516||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|9/14|c.730A>T|p.Ile244Phe|816/1640|730/1335|244/444||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|10/15|c.814A>T|p.Ile272Phe|871/1650|814/1419|272/472||,A|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|6/8|c.484A>T|p.Ile162Phe|485/817|484/816|162/271||WARNING_TRANSCRIPT_NO_START_CODON
22	43218397	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|9/16|c.691A>G|p.Ser231Gly|911/2857|691/1551|231/516||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|7/14|c.475A>G|p.Ser159Gly|561/1640|475/1335|159/444||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|8/15|c.559A>G|p.Ser187Gly|616/1650|559/1419|187/472||,C|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|4/8|c.229A>G|p.Ser77Gly|230/817|229/816|77/271||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|MODERATE|ARFGAP3|ENSG00000242247|amino_acid_modification:Phosphoserine|ENST00000263245|protein_coding|9/16|c.691A>G||||||,C|sequence_feature|MODERATE|ARFGAP3|ENSG00000242247|amino_acid_modification:Phosphoserine|ENST00000437119|protein_coding|8/15|c.559A>G||||||,C|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding||c.*542A>G|||||1265|WARNING_TRANSCRIPT_NO_STOP_CODON
22	43227654	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARFGAP3|ENSG00000242247|transcript|ENST00000453516|protein_coding|1/8|c.4G>A|p.Ala2Thr|5/817|4/816|2/271||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.*178G>A|||||3764|,T|downstream_gene_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000435208|protein_coding||c.*501G>A|||||3765|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000263245|protein_coding|5/15|c.478-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000429508|protein_coding|3/13|c.262-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000437119|protein_coding|4/14|c.346-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ENSG00000242247|transcript|ENST00000454099|protein_coding|3/5|c.262-12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON
22	43272283	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|10/11|c.1208C>T|p.Ser403Phe|1410/3249|1208/1461|403/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|9/10|c.1085C>T|p.Ser362Phe|1287/3126|1085/1338|362/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|9/10|c.1085C>T|p.Ser362Phe|1245/3080|1085/1338|362/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|10/11|c.1208C>T|p.Ser403Phe|1430/2110|1208/1461|403/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|10/11|c.1208C>T|p.Ser403Phe|1401/1883|1208/1461|403/486||,A|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2C>T|||||70|
22	43272982	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|9/11|c.1063G>A|p.Ala355Thr|1265/3249|1063/1461|355/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|9/11|c.1063G>A|p.Ala355Thr|1285/2110|1063/1461|355/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|9/11|c.1063G>A|p.Ala355Thr|1256/1883|1063/1461|355/486||,T|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2G>A|||||769|,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/9|c.1029-643G>A||||||,T|intron_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/9|c.1029-643G>A||||||
22	43275082	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|8/11|c.1000G>A|p.Asp334Asn|1202/3249|1000/1461|334/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|8/10|c.1000G>A|p.Asp334Asn|1202/3126|1000/1338|334/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|8/10|c.1000G>A|p.Asp334Asn|1160/3080|1000/1338|334/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|8/11|c.1000G>A|p.Asp334Asn|1222/2110|1000/1461|334/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|8/11|c.1000G>A|p.Asp334Asn|1193/1883|1000/1461|334/486||,T|upstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000507586|nonsense_mediated_decay||n.-2G>A|||||2869|
22	43278230	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|7/11|c.866A>G|p.Asn289Ser|1068/3249|866/1461|289/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|7/10|c.866A>G|p.Asn289Ser|1068/3126|866/1338|289/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|7/10|c.866A>G|p.Asn289Ser|1026/3080|866/1338|289/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|7/11|c.866A>G|p.Asn289Ser|1088/2110|866/1461|289/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|7/11|c.866A>G|p.Asn289Ser|1059/1883|866/1461|289/486||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|7/10|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.866A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|7/11|c.866A>G||||||
22	43284734	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|5/11|c.524A>G|p.Asn175Ser|726/3249|524/1461|175/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|5/10|c.524A>G|p.Asn175Ser|726/3126|524/1338|175/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|5/10|c.524A>G|p.Asn175Ser|684/3080|524/1338|175/445||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|5/11|c.524A>G|p.Asn175Ser|746/2110|524/1461|175/486||,C|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|5/11|c.524A>G|p.Asn175Ser|717/1883|524/1461|175/486||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|5/10|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.524A>G||||||,C|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|5/11|c.524A>G||||||,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding||c.*818A>G|||||2207|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding||c.*622A>G|||||2216|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding||c.*664A>G|||||2216|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260A>G|||||4729|,C|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505A>G|||||4846|WARNING_TRANSCRIPT_INCOMPLETE
22	43287108	.	C	A,T	.	.	ANN=A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.298G>T|p.Val100Leu|500/3249|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.298G>A|p.Val100Met|500/3249|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.298G>T|p.Val100Leu|500/3126|298/1338|100/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.298G>A|p.Val100Met|500/3126|298/1338|100/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.298G>T|p.Val100Leu|458/3080|298/1338|100/445||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.298G>A|p.Val100Met|458/3080|298/1338|100/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.298G>T|p.Val100Leu|520/2110|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.298G>A|p.Val100Met|520/2110|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.298G>T|p.Val100Leu|491/1883|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.298G>A|p.Val100Met|491/1883|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.298G>T|p.Val100Leu|651/818|298/465|100/154||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.298G>A|p.Val100Met|651/818|298/465|100/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.298G>T|p.Val100Leu|464/622|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.298G>A|p.Val100Met|464/622|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.298G>T|p.Val100Leu|506/664|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.298G>A|p.Val100Met|506/664|298/456|100/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.298G>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.298G>A||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.298G>A||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.298G>T||||||,T|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.298G>A||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260G>T|||||2355|,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260G>A|||||2355|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505G>T|||||2472|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505G>A|||||2472|WARNING_TRANSCRIPT_INCOMPLETE
22	43287173	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000263246|protein_coding|4/11|c.233C>T|p.Thr78Ile|435/3249|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000337959|protein_coding|4/10|c.233C>T|p.Thr78Ile|435/3126|233/1338|78/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000407585|protein_coding|4/10|c.233C>T|p.Thr78Ile|393/3080|233/1338|78/445||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000403744|protein_coding|4/11|c.233C>T|p.Thr78Ile|455/2110|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000402229|protein_coding|4/11|c.233C>T|p.Thr78Ile|426/1883|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000453643|protein_coding|5/5|c.233C>T|p.Thr78Ile|586/818|233/465|78/154||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000418133|protein_coding|4/4|c.233C>T|p.Thr78Ile|399/622|233/456|78/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|PACSIN2|ENSG00000100266|transcript|ENST00000422336|protein_coding|4/4|c.233C>T|p.Thr78Ile|441/664|233/456|78/151||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|2/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|4/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|5/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|3/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|6/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|7/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000407585|protein_coding|8/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|4/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|5/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|3/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|6/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000407585|protein_coding|7/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000407585|protein_coding|4/10|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|2/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|4/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|5/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|3/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|6/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|7/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|region_of_interest:F-BAR_domain|ENST00000402229|protein_coding|8/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|4/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|5/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|3/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|6/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|coiled-coil_region|ENST00000402229|protein_coding|7/11|c.233C>T||||||,A|sequence_feature|LOW|PACSIN2|ENSG00000100266|helix|ENST00000402229|protein_coding|4/11|c.233C>T||||||,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000445706|nonsense_mediated_decay||n.*260C>T|||||2290|,A|downstream_gene_variant|MODIFIER|PACSIN2|ENSG00000100266|transcript|ENST00000453079|protein_coding||c.*505C>T|||||2407|WARNING_TRANSCRIPT_INCOMPLETE
22	43442542	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/11|c.1016A>G|p.Asn339Ser|1257/1645|1016/1272|339/423||,C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/10|c.929A>G|p.Asn310Ser|1170/1686|929/1185|310/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.1016A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.1016A>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*940A>G|||||23640|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*908A>G|||||23640|,C|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5235T>C||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*940A>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*908A>G||||||
22	43442557	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|10/11|c.1001C>T|p.Thr334Met|1242/1645|1001/1272|334/423||,A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|9/10|c.914C>T|p.Thr305Met|1155/1686|914/1185|305/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.1001C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.1001C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*925C>T|||||23625|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*893C>T|||||23625|,A|intron_variant|MODIFIER|AL022476.2|ENSG00000230319|transcript|ENST00000443063|antisense|2/2|n.1771+5250G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|11/12|n.*925C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|11/12|n.*893C>T||||||
22	43455457	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|8/11|c.824A>G|p.Lys275Arg|1065/1645|824/1272|275/423||,C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|8/10|c.824A>G|p.Lys275Arg|1065/1686|824/1185|275/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.824A>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.824A>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*748A>G|||||10725|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*716A>G|||||10725|,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|9/12|n.*748A>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|9/12|n.*716A>G||||||
22	43460215	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|6/11|c.619C>T|p.Arg207Cys|860/1645|619/1272|207/423||,A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|6/10|c.619C>T|p.Arg207Cys|860/1686|619/1185|207/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.619C>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.619C>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|7/12|n.*543C>T|||||5967|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|7/12|n.*511C>T|||||5967|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|7/12|n.*543C>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|7/12|n.*511C>T||||||
22	43465650	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|4/11|c.314T>G|p.Leu105Arg|555/1645|314/1272|105/423||,C|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|4/10|c.314T>G|p.Leu105Arg|555/1686|314/1185|105/394||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.314T>G||||||,C|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.314T>G||||||,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*206T>G|||||532|,C|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*206T>G|||||532|,C|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421T>G|||||532|,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*206T>G||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*206T>G||||||
22	43465668	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000266254|protein_coding|4/11|c.296A>T|p.Asp99Val|537/1645|296/1272|99/423||,A|missense_variant|MODERATE|TTLL1|ENSG00000100271|transcript|ENST00000331018|protein_coding|4/10|c.296A>T|p.Asp99Val|537/1686|296/1185|99/394||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|3/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|10/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|8/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|4/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|6/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|9/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|7/11|c.296A>T||||||,A|sequence_feature|LOW|TTLL1|ENSG00000100271|domain:TTL|ENST00000266254|protein_coding|5/11|c.296A>T||||||,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*188A>T|||||514|,A|3_prime_UTR_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*188A>T|||||514|,A|downstream_gene_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000445824|protein_coding||c.*421A>T|||||514|,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000439248|nonsense_mediated_decay|5/12|n.*188A>T||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|ENSG00000100271|transcript|ENST00000440761|nonsense_mediated_decay|5/12|n.*188A>T||||||
22	43520105	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|2/5|c.77C>T|p.Thr26Ile|140/953|77/483|26/160||
22	43524582	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/5|c.341T>C|p.Leu114Pro|404/953|341/483|114/160||,C|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219A>G|||||3630|,C|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559A>G|||||4304|
22	43524587	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|4/5|c.346G>A|p.Glu116Lys|409/953|346/483|116/160||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||3625|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||4299|
22	43525262	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.434C>T|p.Ala145Val|497/953|434/483|145/160||,T|sequence_feature|LOW|BIK|ENSG00000100290|transmembrane_region:Transmembrane_region|ENST00000216115|protein_coding|5/5|c.434C>T||||||,T|sequence_feature|LOW|BIK|ENSG00000100290|region_of_interest:Leucine-zipper|ENST00000216115|protein_coding|5/5|c.434C>T||||||,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219G>A|||||2950|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559G>A|||||3624|
22	43525285	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding|5/5|c.457G>A|p.Gly153Arg|520/953|457/483|153/160||,A|sequence_feature|LOW|BIK|ENSG00000100290|transmembrane_region:Transmembrane_region|ENST00000216115|protein_coding|5/5|c.457G>A||||||,A|sequence_feature|LOW|BIK|ENSG00000100290|region_of_interest:Leucine-zipper|ENST00000216115|protein_coding|5/5|c.457G>A||||||,A|sequence_feature|LOW|BIK|ENSG00000100290|cleavage_site:Cleavage|ENST00000216115|protein_coding|5/5|c.457G>A||||||,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding||c.*1219C>T|||||2927|,A|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding||c.*559C>T|||||3601|
22	43529059	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1163C>T|p.Pro388Leu|1209/2056|1163/1173|388/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*402C>T|||||402|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>A|||||3341|
22	43529061	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1161G>T|p.Glu387Asp|1207/2056|1161/1173|387/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*400G>T|||||400|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>A|||||3343|
22	43529094	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1128G>C|p.Gln376His|1174/2056|1128/1173|376/390||,G|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*367G>C|||||367|,G|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>G|||||3376|
22	43529138	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.1084A>G|p.Asn362Asp|1130/2056|1084/1173|362/390||,C|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*323A>G|||||323|,C|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546T>C|||||3420|
22	43529314	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.908C>G|p.Ala303Gly|954/2056|908/1173|303/390||,C|sequence_feature|LOW|MCAT|ENSG00000100294|beta_strand|ENST00000290429|protein_coding|4/4|c.908C>G||||||,C|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*147C>G|||||147|,C|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>C|||||3596|
22	43529321	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.901G>A|p.Val301Ile|947/2056|901/1173|301/390||,T|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|4/4|c.901G>A||||||,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*140G>A|||||140|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3603|
22	43529323	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.899A>G|p.Asn300Ser|945/2056|899/1173|300/390||,C|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|4/4|c.899A>G||||||,C|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*138A>G|||||138|,C|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546T>C|||||3605|
22	43529393	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.829G>A|p.Ala277Thr|875/2056|829/1173|277/390||,T|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|4/4|c.829G>A||||||,T|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*68G>A|||||68|,T|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546C>T|||||3675|
22	43529408	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|4/4|c.814C>T|p.Arg272Cys|860/2056|814/1173|272/390||,A|sequence_feature|LOW|MCAT|ENSG00000100294|helix|ENST00000290429|protein_coding|4/4|c.814C>T||||||,A|3_prime_UTR_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|3/3|c.*53C>T|||||53|,A|downstream_gene_variant|MODIFIER|BIK|ENSG00000100290|transcript|ENST00000216115|protein_coding||c.*546G>A|||||3690|
22	43533146	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|3/4|c.670G>A|p.Val224Ile|716/2056|670/1173|224/390||,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.*264G>A|||||3690|,T|downstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript||n.*549G>A|||||3916|,T|intron_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|2/2|c.512-3654G>A||||||
22	43539120	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.235C>G|p.Arg79Gly|281/2056|235/1173|79/390||,C|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.235C>G|p.Arg79Gly|251/1134|235/543|79/180||,C|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000290429|protein_coding|1/4|c.235C>G||||||,C|sequence_feature|LOW|MCAT|ENSG00000100294|turn|ENST00000327555|protein_coding|1/3|c.235C>G||||||,C|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1C>G|||||150|,C|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.167C>G||||||
22	43539246	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.109G>A|p.Glu37Lys|155/2056|109/1173|37/390||,T|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.109G>A|p.Glu37Lys|125/1134|109/543|37/180||,T|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1G>A|||||276|,T|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.41G>A||||||
22	43539279	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000290429|protein_coding|1/4|c.76C>T|p.Pro26Ser|122/2056|76/1173|26/390||,A|missense_variant|MODERATE|MCAT|ENSG00000100294|transcript|ENST00000327555|protein_coding|1/3|c.76C>T|p.Pro26Ser|92/1134|76/543|26/180||,A|upstream_gene_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000608052|protein_coding||c.-1C>T|||||309|,A|non_coding_exon_variant|MODIFIER|MCAT|ENSG00000100294|transcript|ENST00000464244|processed_transcript|1/2|n.8C>T||||||
22	43555285	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|2/4|c.41C>T|p.Ala14Val|267/955|41/510|14/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|2/4|c.41C>T|p.Ala14Val|161/881|41/510|14/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|2/3|c.41C>T|p.Ala14Val|392/672|41/321|14/106||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|2/4|c.41C>T||||||,T|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|1/2|c.-99-1773C>T||||||,T|intron_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|1/2|c.-130-1773C>T||||||,T|non_coding_exon_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron|2/2|n.102C>T||||||
22	43557156	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|3/4|c.281C>T|p.Ala94Val|507/955|281/510|94/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|3/4|c.281C>T|p.Ala94Val|401/881|281/510|94/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding|3/3|c.281C>T|p.Ala94Val|632/672|281/321|94/106||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|3/4|c.281C>T||||||,T|5_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|2/3|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|2/3|c.-32C>T|||||32|,T|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495C>T|||||1478|
22	43558843	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.356C>T|p.Ala119Val|582/955|356/510|119/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.356C>T|p.Ala119Val|476/881|356/510|119/169||,T|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.44C>T|p.Ala15Val|232/636|44/198|15/65||,T|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.75C>T|p.Gly25Gly|250/654|75/309|25/102||,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|4/4|c.356C>T||||||,T|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|3/4|c.356C>T||||||,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999G>A|||||3785|,T|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495C>T|||||3165|,T|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672C>T|||||1647|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451G>A|||||3786|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483G>A|||||4766|
22	43558926	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.439A>G|p.Thr147Ala|665/955|439/510|147/169||,G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.439A>G|p.Thr147Ala|559/881|439/510|147/169||,G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.158A>G|p.His53Arg|333/654|158/309|53/102||,G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.127A>G|p.Thr43Ala|315/636|127/198|43/65||,G|sequence_feature|LOW|TSPO|ENSG00000100300|transmembrane_region:Transmembrane_region|ENST00000337554|protein_coding|4/4|c.439A>G||||||,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999T>C|||||3702|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495A>G|||||3248|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672A>G|||||1730|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451T>C|||||3703|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483T>C|||||4683|
22	43558972	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.485G>A|p.Arg162His|711/955|485/510|162/169||,A|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.485G>A|p.Arg162His|605/881|485/510|162/169||,A|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.173G>A|p.Arg58His|361/636|173/198|58/65||,A|synonymous_variant|LOW|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.204G>A|p.Ala68Ala|379/654|204/309|68/102||,A|sequence_feature|LOW|TSPO|ENSG00000100300|topological_domain:Cytoplasmic|ENST00000337554|protein_coding|4/4|c.485G>A||||||,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999C>T|||||3656|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495G>A|||||3294|,A|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672G>A|||||1776|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451C>T|||||3657|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483C>T|||||4637|
22	43558999	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding|3/3|c.231T>G|p.Ser77Arg|406/654|231/309|77/102||,G|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding|4/4|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding|4/4|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding|3/3|c.*2T>G|||||2|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding||c.*1999A>C|||||3629|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000472378|retained_intron||n.*495T>G|||||3321|,G|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000428336|protein_coding||c.*672T>G|||||1803|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.*2451A>C|||||3630|,G|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.*483A>C|||||4610|
22	43564050	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|14/14|c.1899C>G|p.Asp633Glu|1963/3385|1899/1935|633/644||,C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|4/4|c.162C>G|p.Asp54Glu|447/888|162/198|54/65||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1899C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1899C>G||||||,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000329563|protein_coding||c.*736G>C|||||4834|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000337554|protein_coding||c.*630G>C|||||4802|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000396265|protein_coding||c.*484G>C|||||4803|,C|downstream_gene_variant|MODIFIER|TSPO|ENSG00000100300|transcript|ENST00000583777|protein_coding||c.*386G>C|||||4803|,C|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|3/3|n.1030C>G||||||
22	43564860	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|13/14|c.1703C>T|p.Pro568Leu|1767/3385|1703/1935|568/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1703C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1703C>T||||||,A|5_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|3/4|c.-35C>T|||||35|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|2/3|n.834C>T||||||
22	43565516	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|12/14|c.1634C>T|p.Thr545Met|1698/3385|1634/1935|545/644||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/4|c.-104C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1634C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1634C>T||||||,A|5_prime_UTR_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding|2/4|c.-104C>T|||||691|,A|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636C>T|||||4783|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron|1/3|n.765C>T||||||
22	43568439	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1463A>G|p.Tyr488Cys|1527/3385|1463/1935|488/644||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1463A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1463A>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1A>G|||||2159|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286A>G|||||683|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636A>G|||||1860|
22	43568494	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1408G>A|p.Asp470Asn|1472/3385|1408/1935|470/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1408G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1408G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||2214|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||738|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||1805|
22	43568512	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|10/14|c.1390G>A|p.Val464Met|1454/3385|1390/1935|464/644||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1390G>A||||||,T|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1390G>A||||||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1G>A|||||2232|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||756|,T|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636G>A|||||1787|
22	43569755	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|9/14|c.1307A>G|p.His436Arg|1371/3385|1307/1935|436/644||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.1307A>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.1307A>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1A>G|||||3475|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286A>G|||||1999|,C|downstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.*636A>G|||||544|
22	43570550	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.989C>T|p.Ala330Val|1053/3385|989/1935|330/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.989C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.989C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4270|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2794|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.480C>T||||||
22	43570583	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.956C>T|p.Thr319Ile|1020/3385|956/1935|319/644||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.956C>T||||||,A|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.956C>T||||||,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>T|||||4303|,A|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>T|||||2827|,A|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.447C>T||||||
22	43570602	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|7/14|c.937C>G|p.Gln313Glu|1001/3385|937/1935|313/644||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|7/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|14/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|11/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|9/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|6/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|8/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|10/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|13/14|c.937C>G||||||,C|sequence_feature|LOW|TTLL12|ENSG00000100304|domain:TTL|ENST00000216129|protein_coding|12/14|c.937C>G||||||,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484711|retained_intron||n.-1C>G|||||4322|,C|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286C>G|||||2846|,C|non_coding_exon_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript|2/3|n.428C>G||||||
22	43572354	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|6/14|c.889G>A|p.Val297Met|953/3385|889/1935|297/644||,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000494035|protein_coding||c.-286G>A|||||4598|,T|upstream_gene_variant|MODIFIER|TTLL12|ENSG00000100304|transcript|ENST00000484118|processed_transcript||n.-1G>A|||||670|
22	43576831	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|3/14|c.463G>C|p.Gly155Arg|527/3385|463/1935|155/644||
22	43579008	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.325C>G|p.Leu109Val|389/3385|325/1935|109/644||
22	43579049	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.284A>G|p.Asn95Ser|348/3385|284/1935|95/644||
22	43579055	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.278C>T|p.Pro93Leu|342/3385|278/1935|93/644||
22	43579083	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|2/14|c.250C>T|p.Arg84Trp|314/3385|250/1935|84/644||
22	43583051	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL12|ENSG00000100304|transcript|ENST00000216129|protein_coding|1/14|c.25C>T|p.Arg9Cys|89/3385|25/1935|9/644||
22	43604152	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|20/22|c.2660A>G|p.Lys887Arg|2787/9808|2660/2967|887/988||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2660A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2660A>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1T>C|||||4528|
22	43606057	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2573G>A|p.Arg858Lys|2700/9808|2573/2967|858/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2573G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2573G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2573G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|20/22|c.2573G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2623|
22	43606088	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2542G>A|p.Glu848Lys|2669/9808|2542/2967|848/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2542G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2542G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2592|
22	43606181	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|19/22|c.2449G>A|p.Asp817Asn|2576/9808|2449/2967|817/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|19/22|c.2449G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:CUB|ENST00000360835|protein_coding|20/22|c.2449G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|19/22|c.2449G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1C>T|||||2499|
22	43606987	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|18/22|c.2324C>T|p.Thr775Ile|2451/9808|2324/2967|775/988||,A|upstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.-1G>A|||||1693|
22	43610138	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.2011G>A|p.Gly671Arg|2138/9808|2011/2967|671/988||,T|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>T|||||471|
22	43610141	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.2008G>A|p.Asp670Asn|2135/9808|2008/2967|670/988||,T|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531C>T|||||474|
22	43610201	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.1948A>G|p.Met650Val|2075/9808|1948/2967|650/988||,C|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531T>C|||||534|
22	43610207	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|16/22|c.1942T>C|p.Ser648Pro|2069/9808|1942/2967|648/988||,G|downstream_gene_variant|MODIFIER|Z82214.3|ENSG00000236272|transcript|ENST00000420269|antisense||n.*531A>G|||||540|
22	43618695	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|12/22|c.1381G>T|p.Ala461Ser|1508/9808|1381/2967|461/988||
22	43619183	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|11/22|c.1247G>A|p.Arg416Gln|1374/9808|1247/2967|416/988||
22	43623383	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1204G>A|p.Val402Met|1331/9808|1204/2967|402/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1204G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1204G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||4764|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||4379|WARNING_TRANSCRIPT_INCOMPLETE
22	43623386	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1201T>C|p.Cys401Arg|1328/9808|1201/2967|401/988||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1201T>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1201T>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1201T>C||||||,G|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1A>G|||||4761|,G|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524T>C|||||4376|WARNING_TRANSCRIPT_INCOMPLETE
22	43623395	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1192G>C|p.Gly398Arg|1319/9808|1192/2967|398/988||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1192G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1192G>C||||||,G|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1192G>C||||||,G|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>G|||||4752|,G|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>C|||||4367|WARNING_TRANSCRIPT_INCOMPLETE
22	43623418	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1169C>G|p.Pro390Arg|1296/9808|1169/2967|390/988||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1169C>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1169C>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1169C>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1G>C|||||4729|,C|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524C>G|||||4344|WARNING_TRANSCRIPT_INCOMPLETE
22	43623430	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|10/22|c.1157G>A|p.Cys386Tyr|1284/9808|1157/2967|386/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|10/22|c.1157G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_9|ENST00000360835|protein_coding|9/22|c.1157G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|10/22|c.1157G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||4717|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||4332|WARNING_TRANSCRIPT_INCOMPLETE
22	43625093	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/22|c.1069A>G|p.Thr357Ala|1196/9808|1069/2967|357/988||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.1069A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.1069A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|9/22|c.1069A>G||||||,C|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1T>C|||||3054|,C|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524A>G|||||2669|WARNING_TRANSCRIPT_INCOMPLETE
22	43625113	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|9/22|c.1049G>A|p.Arg350His|1176/9808|1049/2967|350/988||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|8/22|c.1049G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_8|ENST00000360835|protein_coding|9/22|c.1049G>A||||||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|9/22|c.1049G>A||||||,T|upstream_gene_variant|MODIFIER|Z82214.2|ENSG00000234892|transcript|ENST00000419643|antisense||n.-1C>T|||||3034|,T|downstream_gene_variant|MODIFIER|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding||c.*524G>A|||||2649|WARNING_TRANSCRIPT_INCOMPLETE
22	43654278	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|6/22|c.674C>T|p.Thr225Met|801/9808|674/2967|225/988||,A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|2/5|c.143C>T|p.Thr48Met|144/524|143/523|48/173||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|6/8|c.674C>T|p.Thr225Met|736/2258|674/1044|225/347||
22	43658774	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|5/22|c.562G>A|p.Asp188Asn|689/9808|562/2967|188/988||,T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000449304|protein_coding|1/5|c.31G>A|p.Asp11Asn|32/524|31/523|11/173||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|5/8|c.562G>A|p.Asp188Asn|624/2258|562/1044|188/347||,T|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_4|ENST00000360835|protein_coding|5/22|c.562G>A||||||
22	43687171	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|4/22|c.365A>G|p.Gln122Arg|492/9808|365/2967|122/988||,C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|4/8|c.365A>G|p.Gln122Arg|427/2258|365/1044|122/347||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_3|ENST00000360835|protein_coding|3/22|c.365A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_3|ENST00000360835|protein_coding|4/22|c.365A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|4/22|c.365A>G||||||
22	43735185	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000360835|protein_coding|2/22|c.145A>G|p.Ile49Val|272/9808|145/2967|49/988||,C|missense_variant|MODERATE|SCUBE1|ENSG00000159307|transcript|ENST00000290460|protein_coding|2/8|c.145A>G|p.Ile49Val|207/2258|145/1044|49/347||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|domain:EGF-like_1|ENST00000360835|protein_coding|2/22|c.145A>G||||||,C|sequence_feature|LOW|SCUBE1|ENSG00000159307|disulfide_bond|ENST00000360835|protein_coding|2/22|c.145A>G||||||
22	43820981	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|2/7|c.89G>A|p.Arg30Gln|430/1838|89/1080|30/359||,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|2/7|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|2/3|c.-11G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|2/7|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000447567|protein_coding|3/3|c.-11G>A|||||11|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|2/7|c.-11G>A|||||11|,A|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|1/5|c.-94-9973G>A||||||,A|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+12817G>A||||||,A|non_coding_exon_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000480239|processed_transcript|2/2|n.328G>A||||||
22	43831058	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|3/7|c.428G>C|p.Gly143Ala|769/1838|428/1080|143/359||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|3/7|c.329G>C|p.Gly110Ala|773/3657|329/981|110/326||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000334209|protein_coding|3/3|c.329G>C|p.Gly110Ala|553/582|329/358|110/118||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|2/6|c.11G>C|p.Gly4Ala|250/949|11/663|4/220||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|3/7|c.329G>C|p.Gly110Ala|552/2507|329/981|110/326||,C|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|3/7|c.329G>C|p.Gly110Ala|553/1483|329/981|110/326||,C|intron_variant|MODIFIER|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|1/4|c.-69+22894G>C||||||
22	43870810	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000538182|protein_coding|4/7|c.700G>A|p.Val234Met|1041/1838|700/1080|234/359||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000417669|protein_coding|4/7|c.601G>A|p.Val201Met|1045/3657|601/981|201/326||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000414469|protein_coding|3/6|c.283G>A|p.Val95Met|522/949|283/663|95/220||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000439548|protein_coding|2/5|c.127G>A|p.Val43Met|340/1074|127/507|43/168||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000443721|protein_coding|4/7|c.601G>A|p.Val201Met|824/2507|601/981|201/326||,A|missense_variant|MODERATE|MPPED1|ENSG00000186732|transcript|ENST00000542779|protein_coding|4/7|c.601G>A|p.Val201Met|825/1483|601/981|201/326||
22	43924749	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|32/32|c.4490G>A|p.Arg1497Gln|4744/4869|4490/4506|1497/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|30/30|c.4034G>A|p.Arg1345Gln|4299/4424|4034/4050|1345/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000262726|protein_coding|32/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4490G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000396231|protein_coding|30/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.4034G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.4034G>A||||||,T|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-5984C>T||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|7/7|n.1127G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|3/3|n.392G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|3/3|n.303G>A||||||
22	43924753	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|32/32|c.4486C>T|p.Leu1496Phe|4740/4869|4486/4506|1496/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|30/30|c.4030C>T|p.Leu1344Phe|4295/4424|4030/4050|1344/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000262726|protein_coding|32/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4486C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_17|ENST00000396231|protein_coding|30/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.4030C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.4030C>T||||||,A|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-5980G>A||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|7/7|n.1123C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|3/3|n.388C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|3/3|n.299C>T||||||
22	43926715	.	T	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4363A>C|p.Ser1455Arg|4617/4869|4363/4506|1455/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3907A>C|p.Ser1303Arg|4172/4424|3907/4050|1303/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4363A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3907A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3907A>C||||||,G|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-4018T>G||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.1000A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.265A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.176A>C||||||
22	43926729	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4349G>T|p.Gly1450Val|4603/4869|4349/4506|1450/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3893G>T|p.Gly1298Val|4158/4424|3893/4050|1298/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4349G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3893G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3893G>T||||||,A|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-4004C>A||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.986G>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.251G>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.162G>T||||||
22	43926741	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|31/32|c.4337A>G|p.Tyr1446Cys|4591/4869|4337/4506|1446/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|29/30|c.3881A>G|p.Tyr1294Cys|4146/4424|3881/4050|1294/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|32/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|31/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000262726|protein_coding|30/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|32/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000262726|protein_coding|31/32|c.4337A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|30/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|29/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_AR|ENST00000396231|protein_coding|28/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|30/30|c.3881A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_16|ENST00000396231|protein_coding|29/30|c.3881A>G||||||,C|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-3992T>C||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|6/7|n.974A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript|2/3|n.239A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript|2/3|n.150A>G||||||
22	43930672	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|30/32|c.4129G>A|p.Gly1377Arg|4383/4869|4129/4506|1377/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|28/30|c.3673G>A|p.Gly1225Arg|3938/4424|3673/4050|1225/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_15|ENST00000262726|protein_coding|30/32|c.4129G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3673G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_15|ENST00000396231|protein_coding|28/30|c.3673G>A||||||,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>A|||||1287|,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000477145|processed_transcript||n.-1G>A|||||2731|,T|intron_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense|2/2|n.382-61C>T||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|5/7|n.766G>A||||||
22	43933317	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3988A>G|p.Lys1330Glu|4242/4869|3988/4506|1330/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3532A>G|p.Lys1178Glu|3797/4424|3532/4050|1178/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3988A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3532A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3532A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3532A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3532A>G||||||,C|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1A>G|||||3932|,C|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396T>C|||||570|,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.625A>G||||||
22	43933329	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3976C>T|p.Arg1326Cys|4230/4869|3976/4506|1326/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3520C>T|p.Arg1174Cys|3785/4424|3520/4050|1174/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3976C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3520C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3520C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3520C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3520C>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1C>T|||||3944|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>A|||||582|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.613C>T||||||
22	43933352	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3953G>A|p.Arg1318Gln|4207/4869|3953/4506|1318/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3497G>A|p.Arg1166Gln|3762/4424|3497/4050|1166/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3953G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3497G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3497G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3497G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3497G>A||||||,T|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>A|||||3967|,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||605|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.590G>A||||||
22	43933357	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|29/32|c.3948G>T|p.Arg1316Ser|4202/4869|3948/4506|1316/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|27/30|c.3492G>T|p.Arg1164Ser|3757/4424|3492/4050|1164/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|32/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|29/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|31/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000262726|protein_coding|30/32|c.3948G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|30/30|c.3492G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|27/30|c.3492G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|29/30|c.3492G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|interacting_region:Interaction_with_PARK7|ENST00000396231|protein_coding|28/30|c.3492G>T||||||,A|upstream_gene_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000483324|processed_transcript||n.-1G>T|||||3972|,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>A|||||610|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|4/7|n.585G>T||||||
22	43936074	.	G	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3812C>G|p.Thr1271Ser|4066/4869|3812/4506|1271/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3356C>G|p.Thr1119Ser|3621/4424|3356/4050|1119/1349||,C|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396G>C|||||3327|,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.449C>G||||||
22	43936117	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3769G>A|p.Val1257Met|4023/4869|3769/4506|1257/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3313G>A|p.Val1105Met|3578/4424|3313/4050|1105/1349||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3370|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.406G>A||||||
22	43936207	.	T	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3679A>T|p.Asn1227Tyr|3933/4869|3679/4506|1227/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3223A>T|p.Asn1075Tyr|3488/4424|3223/4050|1075/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3679A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3679A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3223A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3223A>T||||||,A|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396T>A|||||3460|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.316A>T||||||
22	43936219	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|28/32|c.3667G>A|p.Glu1223Lys|3921/4869|3667/4506|1223/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|26/30|c.3211G>A|p.Glu1071Lys|3476/4424|3211/4050|1071/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|27/32|c.3667G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000262726|protein_coding|28/32|c.3667G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|25/30|c.3211G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_14|ENST00000396231|protein_coding|26/30|c.3211G>A||||||,T|downstream_gene_variant|MODIFIER|EFCAB6-AS1|ENSG00000223843|transcript|ENST00000431327|antisense||n.*2396C>T|||||3472|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|3/7|n.304G>A||||||
22	43950774	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3623G>A|p.Arg1208His|3877/4869|3623/4506|1208/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3167G>A|p.Arg1056His|3432/4424|3167/4050|1056/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3623G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3623G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3167G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3167G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.260G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2072G>A||||||
22	43950819	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3578C>T|p.Thr1193Met|3832/4869|3578/4506|1193/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3122C>T|p.Thr1041Met|3387/4424|3122/4050|1041/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3578C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3122C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.215C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2027C>T||||||
22	43950826	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3571A>G|p.Met1191Val|3825/4869|3571/4506|1191/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3115A>G|p.Met1039Val|3380/4424|3115/4050|1039/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3571A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3115A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.208A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.2020A>G||||||
22	43950853	.	T	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3544A>C|p.Thr1182Pro|3798/4869|3544/4506|1182/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3088A>C|p.Thr1030Pro|3353/4424|3088/4050|1030/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000262726|protein_coding|27/32|c.3544A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3544A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_13|ENST00000396231|protein_coding|25/30|c.3088A>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3088A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.181A>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1993A>C||||||
22	43950891	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3506G>A|p.Arg1169His|3760/4869|3506/4506|1169/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3050G>A|p.Arg1017His|3315/4424|3050/4050|1017/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000262726|protein_coding|27/32|c.3506G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|helix|ENST00000396231|protein_coding|25/30|c.3050G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.143G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1955G>A||||||
22	43950936	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3461C>T|p.Pro1154Leu|3715/4869|3461/4506|1154/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.3005C>T|p.Pro1002Leu|3270/4424|3005/4050|1002/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.98C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1910C>T||||||
22	43950949	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|27/32|c.3448C>T|p.Pro1150Ser|3702/4869|3448/4506|1150/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|25/30|c.2992C>T|p.Pro998Ser|3257/4424|2992/4050|998/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000461800|processed_transcript|2/7|n.85C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|13/13|n.1897C>T||||||
22	43972255	.	C	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|26/32|c.3342G>C|p.Leu1114Phe|3596/4869|3342/4506|1114/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|24/30|c.2886G>C|p.Leu962Phe|3151/4424|2886/4050|962/1349||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|12/13|n.1791G>C||||||
22	43972363	.	A	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|26/32|c.3234T>G|p.Phe1078Leu|3488/4869|3234/4506|1078/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|24/30|c.2778T>G|p.Phe926Leu|3043/4424|2778/4050|926/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|26/32|c.3234T>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|25/32|c.3234T>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|24/30|c.2778T>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|23/30|c.2778T>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|12/13|n.1683T>G||||||
22	43976359	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3213G>T|p.Gln1071His|3467/4869|3213/4506|1071/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2757G>T|p.Gln919His|3022/4424|2757/4050|919/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|26/32|c.3213G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000262726|protein_coding|25/32|c.3213G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|24/30|c.2757G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_12|ENST00000396231|protein_coding|23/30|c.2757G>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1662G>T||||||
22	43976396	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3176C>T|p.Ala1059Val|3430/4869|3176/4506|1059/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2720C>T|p.Ala907Val|2985/4424|2720/4050|907/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1625C>T||||||
22	43976414	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3158C>T|p.Thr1053Met|3412/4869|3158/4506|1053/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2702C>T|p.Thr901Met|2967/4424|2702/4050|901/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1607C>T||||||
22	43976423	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|25/32|c.3149A>G|p.Asn1050Ser|3403/4869|3149/4506|1050/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|23/30|c.2693A>G|p.Asn898Ser|2958/4424|2693/4050|898/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|11/13|n.1598A>G||||||
22	43995970	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/32|c.2855C>T|p.Thr952Ile|3109/4869|2855/4506|952/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/30|c.2399C>T|p.Thr800Ile|2664/4424|2399/4050|800/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/13|n.1304C>T||||||
22	43996082	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|23/32|c.2743A>G|p.Asn915Asp|2997/4869|2743/4506|915/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|21/30|c.2287A>G|p.Asn763Asp|2552/4424|2287/4050|763/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|22/32|c.2743A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000262726|protein_coding|23/32|c.2743A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|20/30|c.2287A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_10|ENST00000396231|protein_coding|21/30|c.2287A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|9/13|n.1192A>G||||||
22	44004465	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|22/32|c.2578G>A|p.Asp860Asn|2832/4869|2578/4506|860/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|20/30|c.2122G>A|p.Asp708Asn|2387/4424|2122/4050|708/1349||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|22/32|c.2578G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000262726|protein_coding|21/32|c.2578G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|20/30|c.2122G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_9|ENST00000396231|protein_coding|19/30|c.2122G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|8/13|n.1027G>A||||||
22	44022331	.	T	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2461A>C|p.Ile821Leu|2715/4869|2461/4506|821/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.2005A>C|p.Ile669Leu|2270/4424|2005/4050|669/1349||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.1007A>C||||||
22	44022345	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2447C>T|p.Ala816Val|2701/4869|2447/4506|816/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1991C>T|p.Ala664Val|2256/4424|1991/4050|664/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.993C>T||||||
22	44022394	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2398C>T|p.Arg800Trp|2652/4869|2398/4506|800/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1942C>T|p.Arg648Trp|2207/4424|1942/4050|648/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.944C>T||||||
22	44022418	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2374A>G|p.Arg792Gly|2628/4869|2374/4506|792/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1918A>G|p.Arg640Gly|2183/4424|1918/4050|640/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.920A>G||||||
22	44022441	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2351G>A|p.Arg784His|2605/4869|2351/4506|784/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1895G>A|p.Arg632His|2160/4424|1895/4050|632/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.897G>A||||||
22	44022454	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2338G>A|p.Asp780Asn|2592/4869|2338/4506|780/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1882G>A|p.Asp628Asn|2147/4424|1882/4050|628/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.884G>A||||||
22	44022466	.	T	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2326A>T|p.Asn776Tyr|2580/4869|2326/4506|776/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1870A>T|p.Asn624Tyr|2135/4424|1870/4050|624/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2326A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2326A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1870A>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1870A>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.872A>T||||||
22	44022493	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|20/32|c.2299C>T|p.His767Tyr|2553/4869|2299/4506|767/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|18/30|c.1843C>T|p.His615Tyr|2108/4424|1843/4050|615/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|19/32|c.2299C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000262726|protein_coding|20/32|c.2299C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|17/30|c.1843C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_8|ENST00000396231|protein_coding|18/30|c.1843C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|7/13|n.845C>T||||||
22	44028085	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/32|c.2132C>T|p.Pro711Leu|2386/4869|2132/4506|711/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/30|c.1676C>T|p.Pro559Leu|1941/4424|1676/4050|559/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/13|n.678C>T||||||
22	44028100	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|19/32|c.2117C>T|p.Pro706Leu|2371/4869|2117/4506|706/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|17/30|c.1661C>T|p.Pro554Leu|1926/4424|1661/4050|554/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|6/13|n.663C>T||||||
22	44031027	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2053G>A|p.Glu685Lys|2307/4869|2053/4506|685/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1597G>A|p.Glu533Lys|1862/4424|1597/4050|533/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.599G>A||||||
22	44031042	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2038A>G|p.Thr680Ala|2292/4869|2038/4506|680/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1582A>G|p.Thr528Ala|1847/4424|1582/4050|528/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.584A>G||||||
22	44031070	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2010G>A|p.Met670Ile|2264/4869|2010/4506|670/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1554G>A|p.Met518Ile|1819/4424|1554/4050|518/1349||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.556G>A||||||
22	44031075	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|18/32|c.2005C>T|p.Pro669Ser|2259/4869|2005/4506|669/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|16/30|c.1549C>T|p.Pro517Ser|1814/4424|1549/4050|517/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.2005C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.2005C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1549C>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1549C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|5/13|n.551C>T||||||
22	44063048	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/32|c.1919A>G|p.Lys640Arg|2173/4869|1919/4506|640/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/30|c.1463A>G|p.Lys488Arg|1728/4424|1463/4050|488/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1919A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1919A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1463A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1463A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/13|n.465A>G||||||
22	44063052	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|17/32|c.1915T>C|p.Phe639Leu|2169/4869|1915/4506|639/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|15/30|c.1459T>C|p.Phe487Leu|1724/4424|1459/4050|487/1349||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|17/32|c.1915T>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000262726|protein_coding|18/32|c.1915T>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|15/30|c.1459T>C||||||,G|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_7|ENST00000396231|protein_coding|16/30|c.1459T>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|4/13|n.461T>C||||||
22	44064909	.	G	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|16/32|c.1657C>G|p.Gln553Glu|1911/4869|1657/4506|553/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|14/30|c.1201C>G|p.Gln401Glu|1466/4424|1201/4050|401/1349||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|3/13|n.203C>G||||||
22	44067871	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|15/32|c.1622C>T|p.Thr541Met|1876/4869|1622/4506|541/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|13/30|c.1166C>T|p.Thr389Met|1431/4424|1166/4050|389/1349||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000468552|retained_intron|2/13|n.168C>T||||||
22	44073983	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/32|c.1312A>G|p.Lys438Glu|1566/4869|1312/4506|438/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/30|c.856A>G|p.Lys286Glu|1121/4424|856/4050|286/1349||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1312A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1312A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.856A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.856A>G||||||,C|3_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|9/9|c.*42A>G|||||42|
22	44074021	.	C	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|13/32|c.1274G>T|p.Arg425Ile|1528/4869|1274/4506|425/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|11/30|c.818G>T|p.Arg273Ile|1083/4424|818/4050|273/1349||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|12/32|c.1274G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000262726|protein_coding|13/32|c.1274G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|10/30|c.818G>T||||||,A|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_4|ENST00000396231|protein_coding|11/30|c.818G>T||||||,A|3_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|9/9|c.*4G>T|||||4|
22	44079680	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/32|c.1198C>T|p.His400Tyr|1452/4869|1198/4506|400/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/30|c.742C>T|p.His248Tyr|1007/4424|742/4050|248/1349||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-5637C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|12/12|n.1512C>T||||||
22	44079728	.	A	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|12/32|c.1150T>G|p.Ser384Ala|1404/4869|1150/4506|384/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|10/30|c.694T>G|p.Ser232Ala|959/4424|694/4050|232/1349||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-5685T>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|12/12|n.1464T>G||||||
22	44083442	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|11/32|c.1051A>G|p.Thr351Ala|1305/4869|1051/4506|351/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|9/30|c.595A>G|p.Thr199Ala|860/4424|595/4050|199/1349||,C|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/8|c.714-9399A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|11/12|n.1365A>G||||||
22	44107407	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/32|c.979G>A|p.Asp327Asn|1233/4869|979/4506|327/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/30|c.523G>A|p.Asp175Asn|788/4424|523/4050|175/1349||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/9|c.661G>A|p.Asp221Asn|844/1069|661/732|221/243||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_3|ENST00000262726|protein_coding|10/32|c.979G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_3|ENST00000396231|protein_coding|8/30|c.523G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/12|n.1293G>A||||||
22	44107499	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|10/32|c.887C>T|p.Ser296Leu|1141/4869|887/4506|296/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|8/30|c.431C>T|p.Ser144Leu|696/4424|431/4050|144/1349||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|8/9|c.569C>T|p.Ser190Leu|752/1069|569/732|190/243||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|10/12|n.1201C>T||||||
22	44112807	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|9/32|c.803G>A|p.Arg268His|1057/4869|803/4506|268/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|7/30|c.347G>A|p.Arg116His|612/4424|347/4050|116/1349||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|7/9|c.485G>A|p.Arg162His|668/1069|485/732|162/243||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|8/8|c.485G>A|p.Arg162His|873/1129|485/603|162/200||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|9/12|n.1117G>A||||||
22	44112846	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|9/32|c.764C>T|p.Ser255Leu|1018/4869|764/4506|255/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|7/30|c.308C>T|p.Ser103Leu|573/4424|308/4050|103/1349||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|7/9|c.446C>T|p.Ser149Leu|629/1069|446/732|149/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|8/8|c.446C>T|p.Ser149Leu|834/1129|446/603|149/200||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|9/12|n.1078C>T||||||
22	44127629	.	T	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|8/32|c.707A>C|p.Asn236Thr|961/4869|707/4506|236/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|6/30|c.251A>C|p.Asn84Thr|516/4424|251/4050|84/1349||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|6/9|c.389A>C|p.Asn130Thr|572/1069|389/732|130/243||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|7/8|c.389A>C|p.Asn130Thr|777/1129|389/603|130/200||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|8/12|n.1021A>C||||||
22	44131776	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.605A>G|p.Glu202Gly|859/4869|605/4506|202/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.149A>G|p.Glu50Gly|414/4424|149/4050|50/1349||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.287A>G|p.Glu96Gly|470/1069|287/732|96/243||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.287A>G|p.Glu96Gly|675/1129|287/603|96/200||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.605A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.149A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.919A>G||||||
22	44131786	.	T	C	.	.	ANN=C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.595A>G|p.Arg199Gly|849/4869|595/4506|199/1501||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.139A>G|p.Arg47Gly|404/4424|139/4050|47/1349||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.277A>G|p.Arg93Gly|460/1069|277/732|93/243||,C|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.277A>G|p.Arg93Gly|665/1129|277/603|93/200||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.595A>G||||||,C|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.139A>G||||||,C|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.909A>G||||||
22	44131803	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|7/32|c.578G>A|p.Arg193Gln|832/4869|578/4506|193/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|5/30|c.122G>A|p.Arg41Gln|387/4424|122/4050|41/1349||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|5/9|c.260G>A|p.Arg87Gln|443/1069|260/732|87/243||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|6/8|c.260G>A|p.Arg87Gln|648/1129|260/603|87/200||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000262726|protein_coding|7/32|c.578G>A||||||,T|sequence_feature|LOW|EFCAB6|ENSG00000186976|domain:EF-hand_2|ENST00000396231|protein_coding|5/30|c.122G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|7/12|n.892G>A||||||
22	44151656	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|6/32|c.497T>C|p.Val166Ala|751/4869|497/4506|166/1501||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|4/30|c.41T>C|p.Val14Ala|306/4424|41/4050|14/1349||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|4/9|c.179T>C|p.Val60Ala|362/1069|179/732|60/243||,G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|5/8|c.179T>C|p.Val60Ala|567/1129|179/603|60/200||,G|downstream_gene_variant|MODIFIER|RP3-388M5.8|ENSG00000233157|transcript|ENST00000419730|processed_pseudogene||n.*712T>C|||||3423|,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|6/12|n.811T>C||||||
22	44151684	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|6/32|c.469C>T|p.Arg157Cys|723/4869|469/4506|157/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|4/30|c.13C>T|p.Arg5Cys|278/4424|13/4050|5/1349||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|4/9|c.151C>T|p.Arg51Cys|334/1069|151/732|51/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|5/8|c.151C>T|p.Arg51Cys|539/1129|151/603|51/200||,A|downstream_gene_variant|MODIFIER|RP3-388M5.8|ENSG00000233157|transcript|ENST00000419730|processed_pseudogene||n.*712C>T|||||3395|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|6/12|n.783C>T||||||
22	44161194	.	C	T	.	.	ANN=T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/32|c.431G>A|p.Gly144Asp|685/4869|431/4506|144/1501||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/9|c.113G>A|p.Gly38Asp|296/1069|113/732|38/243||,T|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/8|c.113G>A|p.Gly38Asp|501/1129|113/603|38/200||,T|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-26G>A|||||9498|,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/12|n.745G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|4/4|n.410G>A||||||
22	44161245	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/32|c.380C>T|p.Pro127Leu|634/4869|380/4506|127/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/9|c.62C>T|p.Pro21Leu|245/1069|62/732|21/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/8|c.62C>T|p.Pro21Leu|450/1129|62/603|21/200||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-77C>T||||||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-77C>T|||||9549|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/12|n.694C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|4/4|n.359C>T||||||
22	44161261	.	T	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|5/32|c.364A>T|p.Thr122Ser|618/4869|364/4506|122/1501||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|3/9|c.46A>T|p.Thr16Ser|229/1069|46/732|16/243||,A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|4/8|c.46A>T|p.Thr16Ser|434/1129|46/603|16/200||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|3/30|c.-93A>T|||||9565|,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|5/12|n.678A>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|4/4|n.343A>T||||||
22	44168935	.	A	G	.	.	ANN=G|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|4/32|c.188T>C|p.Ile63Thr|442/4869|188/4506|63/1501||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-7662T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/8|c.34-7662T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/7|c.34-7662T>C||||||,G|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.331-7662T>C||||||,G|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|4/12|n.502T>C||||||
22	44178161	.	G	A	.	.	ANN=A|missense_variant|MODERATE|EFCAB6|ENSG00000186976|transcript|ENST00000262726|protein_coding|3/32|c.38C>T|p.Ser13Leu|292/4869|38/4506|13/1501||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/9|c.-69C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/8|c.-69C>T||||||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000358439|protein_coding|2/9|c.-69C>T|||||69|,A|5_prime_UTR_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000356087|protein_coding|3/8|c.-69C>T|||||69|,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000396231|protein_coding|2/29|c.-105-16888C>T||||||,A|intron_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000476600|processed_transcript|3/3|n.330+14964C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000404038|retained_intron|3/12|n.352C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6|ENSG00000186976|transcript|ENST00000485142|processed_transcript|4/4|n.396C>T||||||
22	44276760	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|9/9|c.1205C>T|p.Pro402Leu|1338/2539|1205/1290|402/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|9/9|c.1205C>T|p.Pro402Leu|1335/2537|1205/1290|402/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|7/7|c.863C>T|p.Pro288Leu|996/2197|863/948|288/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|7/7|c.863C>T|p.Pro288Leu|996/2000|863/948|288/315||,A|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921C>T|||||3333|WARNING_TRANSCRIPT_INCOMPLETE
22	44277512	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|8/9|c.1125G>C|p.Trp375Cys|1258/2539|1125/1290|375/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|8/9|c.1125G>C|p.Trp375Cys|1255/2537|1125/1290|375/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|6/7|c.783G>C|p.Trp261Cys|916/2197|783/948|261/315||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|6/7|c.783G>C|p.Trp261Cys|916/2000|783/948|261/315||,G|downstream_gene_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding||c.*921G>C|||||2581|WARNING_TRANSCRIPT_INCOMPLETE
22	44280184	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|7/9|c.991C>G|p.Arg331Gly|1124/2539|991/1290|331/429||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|7/9|c.991C>G|p.Arg331Gly|1121/2537|991/1290|331/429||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|5/7|c.649C>G|p.Arg217Gly|782/2197|649/948|217/315||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|5/7|c.649C>G|p.Arg217Gly|782/2000|649/948|217/315||,C|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|5/5|c.715C>G|p.Arg239Gly|830/921|715/806|239/267||WARNING_TRANSCRIPT_INCOMPLETE
22	44282276	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/9|c.856T>C|p.Trp286Arg|989/2539|856/1290|286/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/9|c.856T>C|p.Trp286Arg|986/2537|856/1290|286/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/7|c.514T>C|p.Trp172Arg|647/2197|514/948|172/315||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/7|c.514T>C|p.Trp172Arg|647/2000|514/948|172/315||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/5|c.580T>C|p.Trp194Arg|695/921|580/806|194/267||WARNING_TRANSCRIPT_INCOMPLETE
22	44282278	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|6/9|c.854G>A|p.Arg285His|987/2539|854/1290|285/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|6/9|c.854G>A|p.Arg285His|984/2537|854/1290|285/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|4/7|c.512G>A|p.Arg171His|645/2197|512/948|171/315||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|4/7|c.512G>A|p.Arg171His|645/2000|512/948|171/315||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|4/5|c.578G>A|p.Arg193His|693/921|578/806|193/267||WARNING_TRANSCRIPT_INCOMPLETE
22	44285258	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.653C>T|p.Thr218Ile|786/2539|653/1290|218/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.653C>T|p.Thr218Ile|783/2537|653/1290|218/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.311C>T|p.Thr104Ile|444/2197|311/948|104/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.311C>T|p.Thr104Ile|444/2000|311/948|104/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1684C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	44285312	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.599C>T|p.Thr200Ile|732/2539|599/1290|200/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.599C>T|p.Thr200Ile|729/2537|599/1290|200/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.257C>T|p.Thr86Ile|390/2197|257/948|86/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.257C>T|p.Thr86Ile|390/2000|257/948|86/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1630C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	44285348	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|4/9|c.563C>T|p.Pro188Leu|696/2539|563/1290|188/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|4/9|c.563C>T|p.Pro188Leu|693/2537|563/1290|188/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|2/7|c.221C>T|p.Pro74Leu|354/2197|221/948|74/315||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|2/7|c.221C>T|p.Pro74Leu|354/2000|221/948|74/315||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1594C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	44285693	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/9|c.478G>A|p.Glu160Lys|611/2539|478/1290|160/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/9|c.478G>A|p.Glu160Lys|608/2537|478/1290|160/429||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.478G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.478G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.478G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.478G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-318G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-318G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1249G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	44285723	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|3/9|c.448T>C|p.Phe150Leu|581/2539|448/1290|150/429||,G|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|3/9|c.448T>C|p.Phe150Leu|578/2537|448/1290|150/429||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.448T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.448T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.448T>C||||||,G|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.448T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.194-348T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.194-348T>C||||||,G|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/4|c.426+1219T>C||||||WARNING_TRANSCRIPT_INCOMPLETE
22	44286950	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.418C>T|p.Leu140Phe|551/2539|418/1290|140/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.418C>T|p.Leu140Phe|548/2537|418/1290|140/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.418C>T|p.Leu140Phe|533/921|418/806|140/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.418C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.418C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.418C>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.418C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+618C>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+618C>T||||||
22	44286956	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.412G>A|p.Asp138Asn|545/2539|412/1290|138/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.412G>A|p.Asp138Asn|542/2537|412/1290|138/429||,T|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.412G>A|p.Asp138Asn|527/921|412/806|138/267||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.412G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.412G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.412G>A||||||,T|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.412G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+612G>A||||||,T|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+612G>A||||||
22	44287165	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000216177|protein_coding|2/9|c.203G>T|p.Cys68Phe|336/2539|203/1290|68/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000597664|protein_coding|2/9|c.203G>T|p.Cys68Phe|333/2537|203/1290|68/429||,A|missense_variant|MODERATE|PNPLA5|ENSG00000100341|transcript|ENST00000438734|protein_coding|2/5|c.203G>T|p.Cys68Phe|318/921|203/806|68/267||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|2/9|c.203G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|1/9|c.203G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|3/9|c.203G>T||||||,A|sequence_feature|LOW|PNPLA5|ENSG00000100341|domain:Patatin|ENST00000597664|protein_coding|4/9|c.203G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000593866|protein_coding|1/6|c.193+403G>T||||||,A|intron_variant|MODIFIER|PNPLA5|ENSG00000100341|transcript|ENST00000381198|protein_coding|1/6|c.193+403G>T||||||
22	44319951	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|1/9|c.160G>A|p.Val54Ile|333/2805|160/1446|54/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|1/9|c.160G>A|p.Val54Ile|269/2222|160/1434|54/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.160G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|transmembrane_region:Transmembrane_region|ENST00000216180|protein_coding|1/9|c.160G>A||||||,A|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.-1G>A|||||43|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|1/10|n.160G>A||||||
22	44322862	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.235C>T|p.Arg79Trp|408/2805|235/1446|79/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.223C>T|p.Arg75Trp|332/2222|223/1434|75/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.235C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.235C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.230C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.269C>T||||||
22	44322922	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.295T>G|p.Cys99Gly|468/2805|295/1446|99/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.283T>G|p.Cys95Gly|392/2222|283/1434|95/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.295T>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.295T>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.290T>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.329T>G||||||
22	44322970	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|2/9|c.343G>T|p.Gly115Cys|516/2805|343/1446|115/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|2/9|c.331G>T|p.Gly111Cys|440/2222|331/1434|111/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.343G>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.343G>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|2/10|n.338G>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|2/4|n.377G>T||||||
22	44324727	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|3/9|c.444C>G|p.Ile148Met|617/2805|444/1446|148/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|3/9|c.432C>G|p.Ile144Met|541/2222|432/1434|144/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.444C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.444C>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/10|n.*76C>G|||||1732|,G|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1C>G|||||4160|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|3/10|n.*76C>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|3/4|n.478C>G||||||
22	44328798	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.527T>C|p.Ile176Thr|700/2805|527/1446|176/481||,C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.515T>C|p.Ile172Thr|624/2222|515/1434|172/477||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|3/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|2/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|4/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|domain:Patatin|ENST00000216180|protein_coding|1/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.527T>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.527T>C||||||,C|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*159T>C|||||5803|,C|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1T>C|||||89|,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*159T>C||||||,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.561T>C||||||
22	44328821	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.550G>A|p.Val184Met|723/2805|550/1446|184/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.538G>A|p.Val180Met|647/2222|538/1434|180/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.550G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.550G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*182G>A|||||5826|,A|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1G>A|||||66|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*182G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.584G>A||||||
22	44328870	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.599C>T|p.Thr200Met|772/2805|599/1446|200/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.587C>T|p.Thr196Met|696/2222|587/1434|196/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.599C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.599C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*231C>T|||||5875|,T|upstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.-1C>T|||||17|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*231C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.633C>T||||||
22	44328930	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.659A>G|p.Tyr220Cys|832/2805|659/1446|220/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.647A>G|p.Tyr216Cys|756/2222|647/1434|216/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.659A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.659A>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*291A>G|||||5935|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*291A>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.693A>G||||||,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/4|n.44A>G||||||
22	44328939	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.668C>T|p.Ser223Leu|841/2805|668/1446|223/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.656C>T|p.Ser219Leu|765/2222|656/1434|219/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.668C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.668C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*300C>T|||||5944|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*300C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.702C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/4|n.53C>T||||||
22	44328950	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|4/9|c.679G>A|p.Val227Ile|852/2805|679/1446|227/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|4/9|c.667G>A|p.Val223Ile|776/2222|667/1434|223/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.679G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.679G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*311G>A|||||5955|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|4/10|n.*311G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript|4/4|n.713G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|1/4|n.64G>A||||||
22	44332974	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.801A>C|p.Glu267Asp|974/2805|801/1446|267/481||,C|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.789A>C|p.Glu263Asp|898/2222|789/1434|263/477||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.801A>C||||||,C|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.801A>C||||||,C|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*433A>C|||||9979|,C|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730A>C|||||4007|,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*433A>C||||||,C|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.186A>C||||||
22	44333039	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.866C>T|p.Ser289Leu|1039/2805|866/1446|289/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.854C>T|p.Ser285Leu|963/2222|854/1434|285/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.866C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.866C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*498C>T|||||10044|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||4072|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*498C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.251C>T||||||
22	44333131	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.958C>T|p.Leu320Phe|1131/2805|958/1446|320/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.946C>T|p.Leu316Phe|1055/2222|946/1434|316/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.958C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.958C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*590C>T|||||10136|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730C>T|||||4164|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*590C>T||||||,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.343C>T||||||
22	44333146	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|6/9|c.973G>A|p.Ala325Thr|1146/2805|973/1446|325/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|6/9|c.961G>A|p.Ala321Thr|1070/2222|961/1434|321/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.973G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.973G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*605G>A|||||10151|,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000478713|processed_transcript||n.*730G>A|||||4179|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|6/10|n.*605G>A||||||,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript|3/4|n.358G>A||||||
22	44335885	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/9|c.992A>G|p.Glu331Gly|1165/2805|992/1446|331/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/9|c.980A>G|p.Glu327Gly|1089/2222|980/1434|327/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.992A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.992A>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*624A>G|||||12890|,G|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422A>G|||||612|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*624A>G||||||
22	44335962	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|7/9|c.1069C>T|p.Pro357Ser|1242/2805|1069/1446|357/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|7/9|c.1057C>T|p.Pro353Ser|1166/2222|1057/1434|353/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1069C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1069C>T||||||,T|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*701C>T|||||12967|,T|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000497129|processed_transcript||n.*422C>T|||||689|,T|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|7/10|n.*701C>T||||||
22	44340602	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/9|c.1144G>A|p.Asp382Asn|1317/2805|1144/1446|382/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/9|c.1132G>A|p.Asp378Asn|1241/2222|1132/1434|378/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1144G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1144G>A||||||,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*776G>A|||||17607|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*776G>A||||||
22	44340642	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|8/9|c.1184C>G|p.Thr395Ser|1357/2805|1184/1446|395/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|8/9|c.1172C>G|p.Thr391Ser|1281/2222|1172/1434|391/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1184C>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1184C>G||||||,G|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*816C>G|||||17647|,G|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/10|n.*816C>G||||||
22	44342038	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1222C>A|p.Gln408Lys|1395/2805|1222/1446|408/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1210C>A|p.Gln404Lys|1319/2222|1210/1434|404/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1222C>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1222C>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1363C>A||||||
22	44342116	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1300A>G|p.Lys434Glu|1473/2805|1300/1446|434/481||,G|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1288A>G|p.Lys430Glu|1397/2222|1288/1434|430/477||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1300A>G||||||,G|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1300A>G||||||,G|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1441A>G||||||
22	44342146	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1330G>A|p.Ala444Thr|1503/2805|1330/1446|444/481||,A|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1318G>A|p.Ala440Thr|1427/2222|1318/1434|440/477||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1330G>A||||||,A|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1330G>A||||||,A|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1471G>A||||||
22	44342153	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000216180|protein_coding|9/9|c.1337C>T|p.Pro446Leu|1510/2805|1337/1446|446/481||,T|missense_variant|MODERATE|PNPLA3|ENSG00000100344|transcript|ENST00000423180|protein_coding|9/9|c.1325C>T|p.Pro442Leu|1434/2222|1325/1434|442/477||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|9/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|3/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|5/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|2/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|4/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|7/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|6/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|8/9|c.1337C>T||||||,T|sequence_feature|LOW|PNPLA3|ENSG00000100344|topological_domain:Lumenal|ENST00000216180|protein_coding|1/9|c.1337C>T||||||,T|intron_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|8/9|n.*849+1478C>T||||||
22	44360335	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|3/15|c.136G>A|p.Val46Ile|293/1717|136/1410|46/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|3/14|c.-343G>A|||||8851|,A|3_prime_UTR_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|10/10|n.*964G>A|||||37340|,A|non_coding_exon_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay|10/10|n.*964G>A||||||,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|3/7|n.318G>A||||||
22	44364651	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|4/15|c.275G>A|p.Arg92His|432/1717|275/1410|92/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/14|c.-204G>A|||||4535|,A|downstream_gene_variant|MODIFIER|PNPLA3|ENSG00000100344|transcript|ENST00000406117|nonsense_mediated_decay||n.*483G>A|||||4283|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|4/7|n.457G>A||||||
22	44368122	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.329A>G|p.Asp110Gly|486/1717|329/1410|110/469||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1A>G|||||2353|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-674A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.511A>G||||||
22	44368133	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.340A>G|p.Asn114Asp|497/1717|340/1410|114/469||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1A>G|||||2342|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-663A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.522A>G||||||
22	44368144	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.351C>A|p.Asp117Glu|508/1717|351/1410|117/469||,A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1C>A|||||2331|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-652C>A||||||,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.533C>A||||||
22	44368179	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|5/15|c.386C>T|p.Thr129Met|543/1717|386/1410|129/469||,T|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1C>T|||||2296|,T|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|4/13|c.-156-617C>T||||||,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|5/7|n.568C>T||||||
22	44368865	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|6/15|c.544G>A|p.Gly182Arg|701/1717|544/1410|182/469||,A|5_prime_UTR_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|5/14|c.-87G>A|||||321|,A|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.-1G>A|||||1610|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript|6/7|n.726G>A||||||
22	44371941	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|8/15|c.655A>G|p.Ile219Val|812/1717|655/1410|219/469||,G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|7/14|c.25A>G|p.Ile9Val|535/1432|25/780|9/259||,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829A>G|||||2739|,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|1/8|n.1467A>G||||||
22	44372008	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|8/15|c.722C>T|p.Thr241Met|879/1717|722/1410|241/469||,T|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|7/14|c.92C>T|p.Thr31Met|602/1432|92/780|31/259||,T|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829C>T|||||2806|,T|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|1/8|n.1534C>T||||||
22	44372652	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|9/15|c.800G>A|p.Arg267Gln|957/1717|800/1410|267/469||,A|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|8/14|c.170G>A|p.Arg57Gln|680/1432|170/780|57/259||,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493161|processed_transcript||n.*829G>A|||||3450|,A|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|2/8|n.1612G>A||||||
22	44379838	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|12/15|c.1033A>G|p.Ile345Val|1190/1717|1033/1410|345/469||,G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|11/14|c.403A>G|p.Ile135Val|913/1432|403/780|135/259||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.-1A>G|||||2386|,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|5/8|n.1845A>G||||||
22	44386199	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding|14/15|c.1277A>G|p.Tyr426Cys|1434/1717|1277/1410|426/469||,G|missense_variant|MODERATE|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding|13/14|c.647A>G|p.Tyr216Cys|1157/1432|647/780|216/259||,G|upstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript||n.-1A>G|||||9|,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron|7/8|n.2089A>G||||||,G|non_coding_exon_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron|2/3|n.2969A>G||||||
22	44395283	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|1/14|c.63C>G|p.Asn21Lys|193/1569|63/1194|21/397||,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567C>G|||||2870|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290C>G|||||2878|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368C>G|||||2874|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248C>G|||||2874|,G|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283C>G|||||3027|,G|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+8997C>G||||||
22	44395434	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|2/14|c.92G>A|p.Arg31His|222/1569|92/1194|31/397||,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567G>A|||||3021|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290G>A|||||3029|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368G>A|||||3025|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248G>A|||||3025|,A|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283G>A|||||3178|,A|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+9148G>A||||||
22	44395451	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|2/14|c.109T>C|p.Trp37Arg|239/1569|109/1194|37/397||,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000350028|protein_coding||c.*1567T>C|||||3038|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000396202|protein_coding||c.*1290T>C|||||3046|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000474323|retained_intron||n.*2368T>C|||||3042|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000494795|retained_intron||n.*3248T>C|||||3042|,C|downstream_gene_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000493621|processed_transcript||n.*283T>C|||||3195|,C|intron_variant|MODIFIER|SAMM50|ENSG00000100347|transcript|ENST00000465768|processed_transcript|1/2|n.79+9165T>C||||||
22	44489815	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.219C>A|p.Asp73Glu|349/1569|219/1194|73/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.120C>A|p.Asp40Glu|183/5429|120/1095|40/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.114C>A|p.Asp38Glu|273/742|114/583|38/193||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.9C>A|p.Asp3Glu|110/1591|9/984|3/327||,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.158C>A||||||,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.517C>A||||||
22	44489850	.	C	G,T	.	.	ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.254C>G|p.Pro85Arg|384/1569|254/1194|85/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.254C>T|p.Pro85Leu|384/1569|254/1194|85/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.155C>G|p.Pro52Arg|218/5429|155/1095|52/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.155C>T|p.Pro52Leu|218/5429|155/1095|52/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.149C>G|p.Pro50Arg|308/742|149/583|50/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.149C>T|p.Pro50Leu|308/742|149/583|50/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.44C>G|p.Pro15Arg|145/1591|44/984|15/327||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.44C>T|p.Pro15Leu|145/1591|44/984|15/327||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.193C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.193C>T||||||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.552C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.552C>T||||||
22	44489868	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.272T>C|p.Val91Ala|402/1569|272/1194|91/397||,C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.173T>C|p.Val58Ala|236/5429|173/1095|58/364||,C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.167T>C|p.Val56Ala|326/742|167/583|56/193||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.62T>C|p.Val21Ala|163/1591|62/984|21/327||,C|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.211T>C||||||,C|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.570T>C||||||
22	44489871	.	A	T	.	.	ANN=T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|3/14|c.275A>T|p.Asp92Val|405/1569|275/1194|92/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|2/13|c.176A>T|p.Asp59Val|239/5429|176/1095|59/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|3/7|c.170A>T|p.Asp57Val|329/742|170/583|57/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|2/13|c.65A>T|p.Asp22Val|166/1591|65/984|22/327||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|2/5|n.214A>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|3/4|n.573A>T||||||
22	44495951	.	C	G,T	.	.	ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.320C>G|p.Thr107Arg|450/1569|320/1194|107/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.320C>T|p.Thr107Met|450/1569|320/1194|107/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.221C>G|p.Thr74Arg|284/5429|221/1095|74/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.221C>T|p.Thr74Met|284/5429|221/1095|74/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.215C>G|p.Thr72Arg|374/742|215/583|72/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.215C>T|p.Thr72Met|374/742|215/583|72/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.110C>G|p.Thr37Arg|211/1591|110/984|37/327||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.110C>T|p.Thr37Met|211/1591|110/984|37/327||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.259C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.259C>T||||||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.618C>G||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.618C>T||||||
22	44495953	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.322A>G|p.Met108Val|452/1569|322/1194|108/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.223A>G|p.Met75Val|286/5429|223/1095|75/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.217A>G|p.Met73Val|376/742|217/583|73/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.112A>G|p.Met38Val|213/1591|112/984|38/327||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.261A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript|4/4|n.620A>G||||||
22	44495983	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|4/14|c.352A>G|p.Lys118Glu|482/1569|352/1194|118/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|3/13|c.253A>G|p.Lys85Glu|316/5429|253/1095|85/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|4/7|c.247A>G|p.Lys83Glu|406/742|247/583|83/193||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|3/13|c.142A>G|p.Lys48Glu|243/1591|142/984|48/327||,G|downstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477795|processed_transcript||n.*636A>G|||||14|,G|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|3/5|n.291A>G||||||
22	44514974	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|5/14|c.429G>T|p.Gln143His|559/1569|429/1194|143/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|4/13|c.330G>T|p.Gln110His|393/5429|330/1095|110/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|5/7|c.324G>T|p.Gln108His|483/742|324/583|108/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|4/13|c.219G>T|p.Gln73His|320/1591|219/984|73/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.429G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.330G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.219G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.219G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.219G>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.219G>T||||||,T|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000402876|processed_transcript|4/5|n.368G>T||||||
22	44527414	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/14|c.523G>A|p.Glu175Lys|653/1569|523/1194|175/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/13|c.424G>A|p.Glu142Lys|487/5429|424/1095|142/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/7|c.418G>A|p.Glu140Lys|577/742|418/583|140/193||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/13|c.313G>A|p.Glu105Lys|414/1591|313/984|105/327||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.523G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.424G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.313G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.313G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.313G>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.313G>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1G>A|||||4930|
22	44527489	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|6/14|c.598C>T|p.Leu200Phe|728/1569|598/1194|200/397||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|5/13|c.499C>T|p.Leu167Phe|562/5429|499/1095|167/364||,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000444029|protein_coding|6/7|c.493C>T|p.Leu165Phe|652/742|493/583|165/193||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|5/13|c.388C>T|p.Leu130Phe|489/1591|388/984|130/327||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|5/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|7/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|4/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000406477|protein_coding|6/14|c.598C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|4/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|6/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|3/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000338758|protein_coding|5/13|c.499C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|4/13|c.388C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|6/13|c.388C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|3/13|c.388C>T||||||,T|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_1|ENST00000404989|protein_coding|5/13|c.388C>T||||||,T|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000495824|processed_transcript||n.-1C>T|||||4855|
22	44547418	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|11/14|c.929A>G|p.Glu310Gly|1059/1569|929/1194|310/397||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|10/13|c.830A>G|p.Glu277Gly|893/5429|830/1095|277/364||,G|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|10/13|c.719A>G|p.Glu240Gly|820/1591|719/984|240/327||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.929A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.830A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.719A>G||||||,G|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.719A>G||||||
22	44559753	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/14|c.1060T>A|p.Phe354Ile|1190/1569|1060/1194|354/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/13|c.961T>A|p.Phe321Ile|1024/5429|961/1095|321/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/13|c.850T>A|p.Phe284Ile|951/1591|850/984|284/327||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|12/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000406477|protein_coding|13/14|c.1060T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|11/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000338758|protein_coding|12/13|c.961T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|11/13|c.850T>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|helix|ENST00000404989|protein_coding|12/13|c.850T>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1T>A|||||4306|,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/3|n.134T>A||||||
22	44559799	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000406477|protein_coding|13/14|c.1106C>A|p.Ala369Asp|1236/1569|1106/1194|369/397||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000338758|protein_coding|12/13|c.1007C>A|p.Ala336Asp|1070/5429|1007/1095|336/364||,A|missense_variant|MODERATE|PARVB|ENSG00000188677|transcript|ENST00000404989|protein_coding|12/13|c.896C>A|p.Ala299Asp|997/1591|896/984|299/327||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|12/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|14/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|10/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|13/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000406477|protein_coding|11/14|c.1106C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|13/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|11/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|9/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|12/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000338758|protein_coding|10/13|c.1007C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|11/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|9/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|12/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|13/13|c.896C>A||||||,A|sequence_feature|LOW|PARVB|ENSG00000188677|domain:CH_2|ENST00000404989|protein_coding|10/13|c.896C>A||||||,A|upstream_gene_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000477438|processed_transcript||n.-1C>A|||||4260|,A|non_coding_exon_variant|MODIFIER|PARVB|ENSG00000188677|transcript|ENST00000484345|processed_transcript|2/3|n.180C>A||||||
22	44579253	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|3/14|c.44G>C|p.Gly15Ala|287/1967|44/996|15/331||,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|3/14|c.44G>C|p.Gly15Ala|468/2148|44/996|15/331||,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|3/14|c.44G>C|p.Gly15Ala|528/3523|44/996|15/331||,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding|3/3|c.44G>C|p.Gly15Ala|274/309|44/79|15/25||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding|2/2|c.44G>C|p.Gly15Ala|576/622|44/90|15/29||WARNING_TRANSCRIPT_NO_STOP_CODON,C|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding|2/3|c.44G>C|p.Gly15Ala|113/820|44/105|15/34||,C|upstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron||n.-1G>C|||||2153|,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|2/4|n.264G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|3/13|n.267G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|3/13|n.44G>C||||||,C|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|2/3|n.224G>C||||||
22	44581709	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|4/14|c.101C>T|p.Pro34Leu|344/1967|101/996|34/331||,T|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|4/14|c.101C>T|p.Pro34Leu|525/2148|101/996|34/331||,T|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|4/14|c.101C>T|p.Pro34Leu|585/3523|101/996|34/331||,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000416291|protein_coding||c.*309C>T|||||2421|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000417767|protein_coding||c.*622C>T|||||2410|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000466375|protein_coding||c.*174C>T|||||1568|,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript|3/4|n.321C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|4/13|n.324C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|4/13|n.101C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron|3/3|n.281C>T||||||,T|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|1/8|n.304C>T||||||
22	44586484	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.442A>G|p.Lys148Glu|685/1967|442/996|148/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.442A>G|p.Lys148Glu|866/2148|442/996|148/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.442A>G|p.Lys148Glu|926/3523|442/996|148/331||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|7/14|c.442A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|4/14|c.442A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|6/14|c.442A>G||||||,G|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_1|ENST00000415224|protein_coding|5/14|c.442A>G||||||,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960A>G|||||3432|,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566A>G|||||4490|,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1864A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.442A>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3783A>G||||||
22	44586506	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.464C>G|p.Ser155Cys|707/1967|464/996|155/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.464C>G|p.Ser155Cys|888/2148|464/996|155/331||,G|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.464C>G|p.Ser155Cys|948/3523|464/996|155/331||,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>G|||||3454|,G|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>G|||||4512|,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1886C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.464C>G||||||,G|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3805C>G||||||
22	44586519	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|7/14|c.477C>A|p.Asn159Lys|720/1967|477/996|159/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|7/14|c.477C>A|p.Asn159Lys|901/2148|477/996|159/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|7/14|c.477C>A|p.Asn159Lys|961/3523|477/996|159/331||,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000453888|processed_transcript||n.*960C>A|||||3467|,A|downstream_gene_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000471836|retained_intron||n.*566C>A|||||4525|,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|7/13|n.1899C>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|7/13|n.477C>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|2/8|n.3818C>A||||||
22	44594535	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000415224|protein_coding|12/14|c.746G>A|p.Gly249Glu|989/1967|746/996|249/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000422871|protein_coding|12/14|c.746G>A|p.Gly249Glu|1170/2148|746/996|249/331||,A|missense_variant|MODERATE|PARVG|ENSG00000138964|transcript|ENST00000444313|protein_coding|12/14|c.746G>A|p.Gly249Glu|1230/3523|746/996|249/331||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|13/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|11/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|12/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|10/14|c.746G>A||||||,A|sequence_feature|LOW|PARVG|ENSG00000138964|domain:CH_2|ENST00000415224|protein_coding|14/14|c.746G>A||||||,A|3_prime_UTR_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/13|n.*182G>A|||||6547|,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000475485|retained_intron|11/13|n.2168G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000356909|nonsense_mediated_decay|11/13|n.*182G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000468564|retained_intron|6/8|n.4087G>A||||||,A|non_coding_exon_variant|MODIFIER|PARVG|ENSG00000138964|transcript|ENST00000472551|processed_transcript|2/4|n.151G>A||||||
22	44681317	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KIAA1644|ENSG00000138944|transcript|ENST00000381176|protein_coding|4/5|c.590C>T|p.Ser197Leu|723/6751|590/600|197/199||,A|sequence_feature|LOW|KIAA1644|ENSG00000138944|topological_domain:Cytoplasmic|ENST00000381176|protein_coding|4/5|c.590C>T||||||
22	44893337	.	G	T	.	.	ANN=T|missense_variant|MODERATE|LDOC1L|ENSG00000188636|transcript|ENST00000341255|protein_coding|2/2|c.100C>A|p.Leu34Ile|610/5495|100/720|34/239||,T|sequence_feature|LOW|LDOC1L|ENSG00000188636|coiled-coil_region|ENST00000341255|protein_coding|2/2|c.100C>A||||||
22	45127568	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding|5/6|c.332C>T|p.Pro111Leu|589/789|332/532|111/176||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||2420|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2280|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||756|,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|6/9|c.392-42C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|4/16|c.323-42C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|4/16|c.323-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|5/8|c.296-42C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|4/7|n.449-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|5/8|c.296-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|4/7|c.323-42C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|5/8|c.296-42C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|4/7|n.323-47C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|4/6|n.296-47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|3/6|n.229-42C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5054C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|1/4|c.200-42C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|1/4|n.805C>T||||||
22	45128218	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.571C>T|p.Arg191Trp|1180/2279|571/1236|191/411||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.502C>T|p.Arg168Trp|502/2043|502/1932|168/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.502C>T|p.Arg168Trp|502/2043|502/1932|168/643||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.475C>T|p.Arg159Trp|578/905|475/802|159/266||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.475C>T|p.Arg159Trp|669/1767|475/1140|159/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.502C>T|p.Arg168Trp|779/1878|502/1167|168/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.475C>T|p.Arg159Trp|677/881|475/679|159/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.379C>T|p.Arg127Trp|381/1431|379/1044|127/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*128C>T|||||557|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*128C>T|||||557|,T|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1C>T|||||1770|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560C>T|||||2930|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||1406|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||21|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5704C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5704C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5704C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5704C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.628C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*128C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*128C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.408C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1026C>T||||||
22	45128231	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.584G>A|p.Arg195His|1193/2279|584/1236|195/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.515G>A|p.Arg172His|515/2043|515/1932|172/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.515G>A|p.Arg172His|515/2043|515/1932|172/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.488G>A|p.Arg163His|591/905|488/802|163/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.488G>A|p.Arg163His|682/1767|488/1140|163/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.515G>A|p.Arg172His|792/1878|515/1167|172/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.488G>A|p.Arg163His|690/881|488/679|163/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.392G>A|p.Arg131His|394/1431|392/1044|131/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*141G>A|||||570|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*141G>A|||||570|,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>A|||||1757|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>A|||||2943|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||1419|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||34|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5717G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5717G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5717G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5717G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.641G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*141G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*141G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.421G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1039G>A||||||
22	45128233	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|8/10|c.586G>A|p.Val196Met|1195/2279|586/1236|196/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|6/17|c.517G>A|p.Val173Met|517/2043|517/1932|173/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|6/17|c.517G>A|p.Val173Met|517/2043|517/1932|173/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|7/9|c.490G>A|p.Val164Met|593/905|490/802|164/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|7/9|c.490G>A|p.Val164Met|684/1767|490/1140|164/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|6/8|c.517G>A|p.Val173Met|794/1878|517/1167|173/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|7/9|c.490G>A|p.Val164Met|692/881|490/679|164/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|3/5|c.394G>A|p.Val132Met|396/1431|394/1044|132/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*143G>A|||||572|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*143G>A|||||572|,A|upstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron||n.-1G>A|||||1755|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000459857|processed_transcript||n.*560G>A|||||2945|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||1421|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||36|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+5719G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+5719G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+5719G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+5719G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|6/8|n.643G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|6/8|n.*143G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/7|n.*143G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|5/7|n.423G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|2/4|n.1041G>A||||||
22	45130932	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.650C>T|p.Thr217Ile|1259/2279|650/1236|217/411||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.581C>T|p.Thr194Ile|581/2043|581/1932|194/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.581C>T|p.Thr194Ile|581/2043|581/1932|194/643||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.554C>T|p.Thr185Ile|657/905|554/802|185/266||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.554C>T|p.Thr185Ile|748/1767|554/1140|185/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.581C>T|p.Thr194Ile|858/1878|581/1167|194/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.554C>T|p.Thr185Ile|756/881|554/679|185/225||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.458C>T|p.Thr153Ile|460/1431|458/1044|153/347||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.650C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.554C>T||||||,T|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.581C>T||||||,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*207C>T|||||3271|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735C>T|||||4120|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||2735|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8418C>T||||||,T|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1720C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8418C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8418C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8418C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.707C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*207C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.487C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1105C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.945C>T||||||
22	45130947	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.665G>A|p.Arg222His|1274/2279|665/1236|222/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.596G>A|p.Arg199His|596/2043|596/1932|199/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.596G>A|p.Arg199His|596/2043|596/1932|199/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.569G>A|p.Arg190His|672/905|569/802|190/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.569G>A|p.Arg190His|763/1767|569/1140|190/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.596G>A|p.Arg199His|873/1878|596/1167|199/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.569G>A|p.Arg190His|771/881|569/679|190/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.473G>A|p.Arg158His|475/1431|473/1044|158/347||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.665G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.569G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.596G>A||||||,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*222G>A|||||3286|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||4135|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||2750|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8433G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1705G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8433G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8433G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8433G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.722G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*222G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.502G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1120G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.960G>A||||||
22	45130997	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|9/10|c.715G>A|p.Gly239Ser|1324/2279|715/1236|239/411||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/17|c.646G>A|p.Gly216Ser|646/2043|646/1932|216/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/17|c.646G>A|p.Gly216Ser|646/2043|646/1932|216/643||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|8/9|c.619G>A|p.Gly207Ser|722/905|619/802|207/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|8/9|c.619G>A|p.Gly207Ser|813/1767|619/1140|207/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|7/8|c.646G>A|p.Gly216Ser|923/1878|646/1167|216/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding|8/9|c.619G>A|p.Gly207Ser|821/881|619/679|207/225||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|4/5|c.523G>A|p.Gly175Ser|525/1431|523/1044|175/347||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000403581|protein_coding|9/10|c.715G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000006251|protein_coding|8/9|c.619G>A||||||,A|sequence_feature|LOW|PRR5|ENSG00000186654|interacting_region:Interaction_with_RICTOR|ENST00000336985|protein_coding|7/8|c.646G>A||||||,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*272G>A|||||3336|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492289|processed_transcript||n.*735G>A|||||4185|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||2800|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+8483G>A||||||,A|intron_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|6/6|n.*182-1655G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+8483G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+8483G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+8483G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|7/8|n.772G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|7/8|n.*272G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|6/7|n.552G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|3/4|n.1170G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|1/2|n.1010G>A||||||
22	45132675	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.784C>T|p.Arg262Cys|1393/2279|784/1236|262/411||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.688C>T|p.Arg230Cys|791/905|688/802|230/266||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.688C>T|p.Arg230Cys|882/1767|688/1140|230/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.715C>T|p.Arg239Cys|992/1878|715/1167|239/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.592C>T|p.Arg198Cys|594/1431|592/1044|198/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*341C>T|||||5014|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*205C>T|||||5014|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4478|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||9|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1633C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1633C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10161C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10161C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10161C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10161C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.841C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*341C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*205C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.621C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1239C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1079C>T||||||
22	45132687	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.796G>A|p.Val266Met|1405/2279|796/1236|266/411||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding|9/9|c.700G>A|p.Val234Met|803/905|700/802|234/266||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.700G>A|p.Val234Met|894/1767|700/1140|234/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.727G>A|p.Val243Met|1004/1878|727/1167|243/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.604G>A|p.Val202Met|606/1431|604/1044|202/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*353G>A|||||5026|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*217G>A|||||5026|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4490|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||21|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1645G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1645G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10173G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10173G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10173G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10173G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript|8/8|n.853G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*353G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*217G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.633G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1251G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1091G>A||||||
22	45132831	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.940G>A|p.Glu314Lys|1549/2279|940/1236|314/411||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.844G>A|p.Glu282Lys|1038/1767|844/1140|282/379||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.871G>A|p.Glu291Lys|1148/1878|871/1167|291/388||,A|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.748G>A|p.Glu250Lys|750/1431|748/1044|250/347||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*497G>A|||||5170|,A|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*361G>A|||||5170|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905G>A|||||42|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920G>A|||||77|,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789G>A|||||4634|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881G>A|||||165|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1789G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1789G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10317G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10317G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10317G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10317G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*497G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*361G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.777G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1395G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1235G>A||||||
22	45132853	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000403581|protein_coding|10/10|c.962C>T|p.Pro321Leu|1571/2279|962/1236|321/411||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000006251|protein_coding|9/9|c.866C>T|p.Pro289Leu|1060/1767|866/1140|289/379||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000336985|protein_coding|8/8|c.893C>T|p.Pro298Leu|1170/1878|893/1167|298/388||,T|missense_variant|MODERATE|PRR5|ENSG00000186654|transcript|ENST00000455389|protein_coding|5/5|c.770C>T|p.Pro257Leu|772/1431|770/1044|257/347||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*519C>T|||||5192|,T|3_prime_UTR_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*383C>T|||||5192|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432186|protein_coding||c.*905C>T|||||64|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000492475|processed_transcript||n.*920C>T|||||99|,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000403696|protein_coding||c.*789C>T|||||4656|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000457960|protein_coding||c.*881C>T|||||187|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|7/16|c.691+1811C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|7/16|c.691+1811C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|4/14|c.322+10339C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|4/14|c.295+10339C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|2/5|n.105+10339C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|2/12|c.88+10339C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000431834|nonsense_mediated_decay|8/8|n.*519C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000432916|nonsense_mediated_decay|7/7|n.*383C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000477331|processed_transcript|7/7|n.799C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000495017|retained_intron|4/4|n.1417C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5|ENSG00000186654|transcript|ENST00000475850|retained_intron|2/2|n.1257C>T||||||
22	45182361	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.716C>T|p.Ala239Val|716/2043|716/1932|239/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.716C>T|p.Ala239Val|716/2043|716/1932|239/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.347C>T|p.Ala116Val|589/2013|347/1695|116/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.320C>T|p.Ala107Val|320/1857|320/1668|107/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.113C>T|p.Ala38Val|115/1590|113/1512|38/503||,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.-47C>T|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.-47C>T|||||47|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.-47C>T|||||47|,T|upstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron||n.-1C>T|||||71|,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.130C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.79C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.-47C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript|3/3|n.521C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.-47C>T||||||
22	45182436	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.791C>T|p.Thr264Met|791/2043|791/1932|264/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.791C>T|p.Thr264Met|791/2043|791/1932|264/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.422C>T|p.Thr141Met|664/2013|422/1695|141/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.395C>T|p.Thr132Met|395/1857|395/1668|132/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.188C>T|p.Thr63Met|190/1590|188/1512|63/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.29C>T|p.Thr10Met|170/1725|29/1395|10/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.29C>T|p.Thr10Met|210/573|29/392|10/129||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.29C>T|p.Thr10Met|125/1484|29/918|10/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.29C>T|p.Thr10Met|122/1584|29/1302|10/433||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.29C>T|p.Thr10Met|264/581|29/346|10/114||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548C>T|||||48|,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.205C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.154C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.29C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.29C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|1/3|n.5C>T||||||
22	45182453	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.808G>A|p.Asp270Asn|808/2043|808/1932|270/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.808G>A|p.Asp270Asn|808/2043|808/1932|270/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.439G>A|p.Asp147Asn|681/2013|439/1695|147/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.412G>A|p.Asp138Asn|412/1857|412/1668|138/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.205G>A|p.Asp69Asn|207/1590|205/1512|69/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.46G>A|p.Asp16Asn|187/1725|46/1395|16/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.46G>A|p.Asp16Asn|227/573|46/392|16/129||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.46G>A|p.Asp16Asn|142/1484|46/918|16/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.46G>A|p.Asp16Asn|139/1584|46/1302|16/433||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.46G>A|p.Asp16Asn|281/581|46/346|16/114||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.46G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.46G>A||||||,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548G>A|||||65|,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.222G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.171G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.46G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.46G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|1/3|n.22G>A||||||
22	45182466	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|8/17|c.821A>G|p.His274Arg|821/2043|821/1932|274/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|8/17|c.821A>G|p.His274Arg|821/2043|821/1932|274/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|5/15|c.452A>G|p.His151Arg|694/2013|452/1695|151/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|5/15|c.425A>G|p.His142Arg|425/1857|425/1668|142/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|3/13|c.218A>G|p.His73Arg|220/1590|218/1512|73/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|2/13|c.59A>G|p.His20Arg|200/1725|59/1395|20/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|3/6|c.59A>G|p.His20Arg|240/573|59/392|20/129||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|2/11|c.59A>G|p.His20Arg|155/1484|59/918|20/305||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|2/12|c.59A>G|p.His20Arg|152/1584|59/1302|20/433||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|4/7|c.59A>G|p.His20Arg|294/581|59/346|20/114||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.59A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.59A>G||||||,G|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469872|processed_transcript||n.*548A>G|||||78|,G|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|3/6|n.235A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|2/10|n.184A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|2/8|n.59A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/10|n.59A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|1/3|n.35A>G||||||
22	45198002	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/17|c.887G>A|p.Arg296Gln|887/2043|887/1932|296/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/17|c.887G>A|p.Arg296Gln|887/2043|887/1932|296/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/15|c.518G>A|p.Arg173Gln|760/2013|518/1695|173/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/15|c.491G>A|p.Arg164Gln|491/1857|491/1668|164/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/13|c.284G>A|p.Arg95Gln|286/1590|284/1512|95/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/13|c.125G>A|p.Arg42Gln|266/1725|125/1395|42/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/6|c.125G>A|p.Arg42Gln|306/573|125/392|42/129||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/11|c.125G>A|p.Arg42Gln|221/1484|125/918|42/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/12|c.125G>A|p.Arg42Gln|218/1584|125/1302|42/433||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/7|c.125G>A|p.Arg42Gln|360/581|125/346|42/114||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.125G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.125G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-6185G>A||||||,A|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/6|n.301G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/10|n.250G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/8|n.125G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/3|n.101G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/5|n.303G>A||||||
22	45198034	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|9/17|c.919C>T|p.Arg307Trp|919/2043|919/1932|307/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|9/17|c.919C>T|p.Arg307Trp|919/2043|919/1932|307/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|6/15|c.550C>T|p.Arg184Trp|792/2013|550/1695|184/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|6/15|c.523C>T|p.Arg175Trp|523/1857|523/1668|175/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|4/13|c.316C>T|p.Arg106Trp|318/1590|316/1512|106/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|3/13|c.157C>T|p.Arg53Trp|298/1725|157/1395|53/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000396119|protein_coding|4/6|c.157C>T|p.Arg53Trp|338/573|157/392|53/129||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|3/11|c.157C>T|p.Arg53Trp|253/1484|157/918|53/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|3/12|c.157C>T|p.Arg53Trp|250/1584|157/1302|53/433||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000412433|protein_coding|5/7|c.157C>T|p.Arg53Trp|392/581|157/346|53/114||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.157C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.157C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|1/9|n.80-6153C>T||||||,T|non_coding_exon_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000495250|retained_intron|4/6|n.333C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|3/10|n.282C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|3/8|n.157C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000495219|retained_intron|2/3|n.133C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|1/5|n.335C>T||||||
22	45218286	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/17|c.1052A>G|p.Tyr351Cys|1052/2043|1052/1932|351/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/17|c.1052A>G|p.Tyr351Cys|1052/2043|1052/1932|351/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/15|c.815A>G|p.Tyr272Cys|1057/2013|815/1695|272/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/15|c.788A>G|p.Tyr263Cys|788/1857|788/1668|263/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/13|c.581A>G|p.Tyr194Cys|583/1590|581/1512|194/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/13|c.515A>G|p.Tyr172Cys|656/1725|515/1395|172/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/11|c.422A>G|p.Tyr141Cys|518/1484|422/918|141/305||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/12|c.422A>G|p.Tyr141Cys|515/1584|422/1302|141/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.515A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.515A>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*247A>G|||||14092|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/10|n.547A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.483A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*247A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/5|n.600A>G||||||
22	45218318	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/17|c.1084G>T|p.Asp362Tyr|1084/2043|1084/1932|362/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/17|c.1084G>T|p.Asp362Tyr|1084/2043|1084/1932|362/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/15|c.847G>T|p.Asp283Tyr|1089/2013|847/1695|283/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/15|c.820G>T|p.Asp274Tyr|820/1857|820/1668|274/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/13|c.613G>T|p.Asp205Tyr|615/1590|613/1512|205/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/13|c.547G>T|p.Asp183Tyr|688/1725|547/1395|183/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/11|c.454G>T|p.Asp152Tyr|550/1484|454/918|152/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/12|c.454G>T|p.Asp152Tyr|547/1584|454/1302|152/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.547G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.547G>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*23G>T|||||23|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*279G>T|||||14124|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/10|n.579G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*23G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*279G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/5|n.632G>T||||||
22	45218339	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|11/17|c.1105G>A|p.Glu369Lys|1105/2043|1105/1932|369/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|11/17|c.1105G>A|p.Glu369Lys|1105/2043|1105/1932|369/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|9/15|c.868G>A|p.Glu290Lys|1110/2013|868/1695|290/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|9/15|c.841G>A|p.Glu281Lys|841/1857|841/1668|281/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|7/13|c.634G>A|p.Glu212Lys|636/1590|634/1512|212/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|7/13|c.568G>A|p.Glu190Lys|709/1725|568/1395|190/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|6/11|c.475G>A|p.Glu159Lys|571/1484|475/918|159/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|6/12|c.475G>A|p.Glu159Lys|568/1584|475/1302|159/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|4/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|2/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|6/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|7/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|8/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|5/13|c.568G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:CRAL-TRIO|ENST00000389774|protein_coding|3/13|c.568G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*44G>A|||||44|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*300G>A|||||14145|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|6/10|n.600G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|7/8|n.*44G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|4/10|n.*300G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|4/5|n.653G>A||||||
22	45221398	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/17|c.1151G>A|p.Arg384Gln|1151/2043|1151/1932|384/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/17|c.1151G>A|p.Arg384Gln|1151/2043|1151/1932|384/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/15|c.914G>A|p.Arg305Gln|1156/2013|914/1695|305/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/15|c.887G>A|p.Arg296Gln|887/1857|887/1668|296/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/13|c.680G>A|p.Arg227Gln|682/1590|680/1512|227/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/13|c.614G>A|p.Arg205Gln|755/1725|614/1395|205/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/11|c.521G>A|p.Arg174Gln|617/1484|521/918|174/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/12|c.521G>A|p.Arg174Gln|614/1584|521/1302|174/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*90G>A|||||3103|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*346G>A|||||17204|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/10|n.646G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*90G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*346G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|5/5|n.699G>A||||||
22	45221404	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|12/17|c.1157C>T|p.Pro386Leu|1157/2043|1157/1932|386/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|12/17|c.1157C>T|p.Pro386Leu|1157/2043|1157/1932|386/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|10/15|c.920C>T|p.Pro307Leu|1162/2013|920/1695|307/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|10/15|c.893C>T|p.Pro298Leu|893/1857|893/1668|298/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|8/13|c.686C>T|p.Pro229Leu|688/1590|686/1512|229/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|8/13|c.620C>T|p.Pro207Leu|761/1725|620/1395|207/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|7/11|c.527C>T|p.Pro176Leu|623/1484|527/918|176/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|7/12|c.527C>T|p.Pro176Leu|620/1584|527/1302|176/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*96C>T|||||3109|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*352C>T|||||17210|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|7/10|n.652C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000447333|nonsense_mediated_decay|8/8|n.*96C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|5/10|n.*352C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000498310|retained_intron|5/5|n.705C>T||||||
22	45241205	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|13/17|c.1283C>T|p.Thr428Met|1283/2043|1283/1932|428/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|13/17|c.1283C>T|p.Thr428Met|1283/2043|1283/1932|428/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|11/15|c.1046C>T|p.Thr349Met|1288/2013|1046/1695|349/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|11/15|c.1019C>T|p.Thr340Met|1019/1857|1019/1668|340/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|9/13|c.812C>T|p.Thr271Met|814/1590|812/1512|271/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|9/13|c.746C>T|p.Thr249Met|887/1725|746/1395|249/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|8/11|c.653C>T|p.Thr218Met|749/1484|653/918|218/305||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|8/12|c.653C>T|p.Thr218Met|746/1584|653/1302|218/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.746C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.653C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.653C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*478C>T|||||37011|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|8/10|n.778C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|6/10|n.*478C>T||||||
22	45244919	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/17|c.1486G>A|p.Glu496Lys|1486/2043|1486/1932|496/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/17|c.1486G>A|p.Glu496Lys|1486/2043|1486/1932|496/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/15|c.1249G>A|p.Glu417Lys|1491/2013|1249/1695|417/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/15|c.1222G>A|p.Glu408Lys|1222/1857|1222/1668|408/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|11/13|c.1015G>A|p.Glu339Lys|1017/1590|1015/1512|339/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/13|c.949G>A|p.Glu317Lys|1090/1725|949/1395|317/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/11|c.856G>A|p.Glu286Lys|952/1484|856/918|286/305||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/12|c.856G>A|p.Glu286Lys|949/1584|856/1302|286/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.856G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.856G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*681G>A|||||40725|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000460809|retained_intron|10/10|n.981G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/10|n.*681G>A||||||
22	45255580	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1057G>C|p.Glu353Gln|1059/1590|1057/1512|353/503||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.971-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.878-31G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.878-31G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1508-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1508-31G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1271-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1244-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.971-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2575G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.878-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*703-31G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.40G>C||||||
22	45255599	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1076A>C|p.His359Pro|1078/1590|1076/1512|359/503||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.971-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.878-12A>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.878-12A>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|15/16|c.1508-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|15/16|c.1508-12A>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|13/14|c.1271-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|13/14|c.1244-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|11/12|c.971-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2556A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|10/11|c.878-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|8/9|n.*703-12A>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.59A>C||||||
22	45255628	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1525C>T|p.Arg509Cys|1525/2043|1525/1932|509/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1525C>T|p.Arg509Cys|1525/2043|1525/1932|509/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1288C>T|p.Arg430Cys|1530/2013|1288/1695|430/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1261C>T|p.Arg421Cys|1261/1857|1261/1668|421/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1105C>T|p.Arg369Cys|1107/1590|1105/1512|369/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.988C>T|p.Arg330Cys|1129/1725|988/1395|330/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.895C>T|p.Arg299Cys|988/1584|895/1302|299/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.988C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.895C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.895C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*720C>T|||||51434|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2527C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*720C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.88C>T||||||
22	45255637	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1534G>C|p.Gly512Arg|1534/2043|1534/1932|512/643||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1534G>C|p.Gly512Arg|1534/2043|1534/1932|512/643||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1297G>C|p.Gly433Arg|1539/2013|1297/1695|433/564||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1270G>C|p.Gly424Arg|1270/1857|1270/1668|424/555||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1114G>C|p.Gly372Arg|1116/1590|1114/1512|372/503||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.997G>C|p.Gly333Arg|1138/1725|997/1395|333/464||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.904G>C|p.Gly302Arg|997/1584|904/1302|302/433||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.997G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.904G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.904G>C||||||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*729G>C|||||51443|,C|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2518G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*729G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.97G>C||||||
22	45255644	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1541G>T|p.Arg514Leu|1541/2043|1541/1932|514/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1541G>T|p.Arg514Leu|1541/2043|1541/1932|514/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1304G>T|p.Arg435Leu|1546/2013|1304/1695|435/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1277G>T|p.Arg426Leu|1277/1857|1277/1668|426/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1121G>T|p.Arg374Leu|1123/1590|1121/1512|374/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1004G>T|p.Arg335Leu|1145/1725|1004/1395|335/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.911G>T|p.Arg304Leu|1004/1584|911/1302|304/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1004G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.911G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.911G>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*736G>T|||||51450|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2511G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*736G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.104G>T||||||
22	45255655	.	C	A,T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1552C>T|p.Arg518Trp|1552/2043|1552/1932|518/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1552C>T|p.Arg518Trp|1552/2043|1552/1932|518/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1315C>T|p.Arg439Trp|1557/2013|1315/1695|439/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1288C>T|p.Arg430Trp|1288/1857|1288/1668|430/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1132C>T|p.Arg378Trp|1134/1590|1132/1512|378/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1015C>T|p.Arg339Trp|1156/1725|1015/1395|339/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.922C>T|p.Arg308Trp|1015/1584|922/1302|308/433||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1552C>A|p.Arg518Arg|1552/2043|1552/1932|518/643||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1552C>A|p.Arg518Arg|1552/2043|1552/1932|518/643||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1315C>A|p.Arg439Arg|1557/2013|1315/1695|439/564||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1288C>A|p.Arg430Arg|1288/1857|1288/1668|430/555||,A|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1132C>A|p.Arg378Arg|1134/1590|1132/1512|378/503||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1015C>A|p.Arg339Arg|1156/1725|1015/1395|339/464||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.922C>A|p.Arg308Arg|1015/1584|922/1302|308/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1015C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1015C>A||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1015C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1015C>T||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.922C>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.922C>A||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.922C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.922C>T||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>A|||||51461|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>T|||||51461|,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2500C>A||||||,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2500C>T||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>A||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*747C>T||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.115C>A||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.115C>T||||||
22	45255677	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1574A>G|p.Tyr525Cys|1574/2043|1574/1932|525/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1574A>G|p.Tyr525Cys|1574/2043|1574/1932|525/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1337A>G|p.Tyr446Cys|1579/2013|1337/1695|446/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1310A>G|p.Tyr437Cys|1310/1857|1310/1668|437/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1154A>G|p.Tyr385Cys|1156/1590|1154/1512|385/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1037A>G|p.Tyr346Cys|1178/1725|1037/1395|346/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.944A>G|p.Tyr315Cys|1037/1584|944/1302|315/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1037A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.944A>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.944A>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*769A>G|||||51483|,G|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2478A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*769A>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.137A>G||||||
22	45255682	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1579G>A|p.Val527Ile|1579/2043|1579/1932|527/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1579G>A|p.Val527Ile|1579/2043|1579/1932|527/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1342G>A|p.Val448Ile|1584/2013|1342/1695|448/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1315G>A|p.Val439Ile|1315/1857|1315/1668|439/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1159G>A|p.Val387Ile|1161/1590|1159/1512|387/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1042G>A|p.Val348Ile|1183/1725|1042/1395|348/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.949G>A|p.Val317Ile|1042/1584|949/1302|317/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1042G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.949G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.949G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*774G>A|||||51488|,A|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2473G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*774G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.142G>A||||||
22	45255688	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1585C>T|p.Arg529Cys|1585/2043|1585/1932|529/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1585C>T|p.Arg529Cys|1585/2043|1585/1932|529/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1348C>T|p.Arg450Cys|1590/2013|1348/1695|450/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1321C>T|p.Arg441Cys|1321/1857|1321/1668|441/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1165C>T|p.Arg389Cys|1167/1590|1165/1512|389/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1048C>T|p.Arg350Cys|1189/1725|1048/1395|350/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.955C>T|p.Arg319Cys|1048/1584|955/1302|319/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1048C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.955C>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.955C>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*780C>T|||||51494|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2467C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*780C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.148C>T||||||
22	45255689	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|16/17|c.1586G>T|p.Arg529Leu|1586/2043|1586/1932|529/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|16/17|c.1586G>T|p.Arg529Leu|1586/2043|1586/1932|529/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|14/15|c.1349G>T|p.Arg450Leu|1591/2013|1349/1695|450/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|14/15|c.1322G>T|p.Arg441Leu|1322/1857|1322/1668|441/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|12/13|c.1166G>T|p.Arg389Leu|1168/1590|1166/1512|389/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|12/13|c.1049G>T|p.Arg350Leu|1190/1725|1049/1395|350/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|11/12|c.956G>T|p.Arg319Leu|1049/1584|956/1302|319/433||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1049G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.956G>T||||||,T|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.956G>T||||||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*781G>T|||||51495|,T|intron_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|10/10|c.878-2466G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|9/10|n.*781G>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|1/2|n.149G>T||||||
22	45258160	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.883C>G|p.Pro295Ala|979/1484|883/918|295/305||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1617C>G|p.Ser539Ser|1617/2043|1617/1932|539/643||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1617C>G|p.Ser539Ser|1617/2043|1617/1932|539/643||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1380C>G|p.Ser460Ser|1622/2013|1380/1695|460/564||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1353C>G|p.Ser451Ser|1353/1857|1353/1668|451/555||,G|synonymous_variant|LOW|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1197C>G|p.Ser399Ser|1199/1590|1197/1512|399/503||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1080C>G|p.Ser360Ser|1221/1725|1080/1395|360/464||,G|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.987C>G|p.Ser329Ser|1080/1584|987/1302|329/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1080C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.987C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.987C>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*812C>G|||||53966|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*812C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.180C>G||||||
22	45258162	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1619G>A|p.Arg540Gln|1619/2043|1619/1932|540/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1619G>A|p.Arg540Gln|1619/2043|1619/1932|540/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1382G>A|p.Arg461Gln|1624/2013|1382/1695|461/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1355G>A|p.Arg452Gln|1355/1857|1355/1668|452/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1199G>A|p.Arg400Gln|1201/1590|1199/1512|400/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1082G>A|p.Arg361Gln|1223/1725|1082/1395|361/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.989G>A|p.Arg330Gln|1082/1584|989/1302|330/433||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.885G>A|p.Pro295Pro|981/1484|885/918|295/305||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1082G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.989G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.989G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*814G>A|||||53968|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*814G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.182G>A||||||
22	45258168	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1625G>A|p.Ser542Asn|1625/2043|1625/1932|542/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1625G>A|p.Ser542Asn|1625/2043|1625/1932|542/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1388G>A|p.Ser463Asn|1630/2013|1388/1695|463/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1361G>A|p.Ser454Asn|1361/1857|1361/1668|454/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1205G>A|p.Ser402Asn|1207/1590|1205/1512|402/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1088G>A|p.Ser363Asn|1229/1725|1088/1395|363/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.995G>A|p.Ser332Asn|1088/1584|995/1302|332/433||,A|synonymous_variant|LOW|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.891G>A|p.Glu297Glu|987/1484|891/918|297/305||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1088G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.995G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.995G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*820G>A|||||53974|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*820G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.188G>A||||||
22	45258187	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1644C>G|p.Asn548Lys|1644/2043|1644/1932|548/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1644C>G|p.Asn548Lys|1644/2043|1644/1932|548/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1407C>G|p.Asn469Lys|1649/2013|1407/1695|469/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1380C>G|p.Asn460Lys|1380/1857|1380/1668|460/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1224C>G|p.Asn408Lys|1226/1590|1224/1512|408/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1107C>G|p.Asn369Lys|1248/1725|1107/1395|369/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.910C>G|p.Gln304Glu|1006/1484|910/918|304/305||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1014C>G|p.Asn338Lys|1107/1584|1014/1302|338/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1107C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1014C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1014C>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*839C>G|||||53993|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*839C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.207C>G||||||
22	45258233	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1690T>G|p.Ser564Ala|1690/2043|1690/1932|564/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1690T>G|p.Ser564Ala|1690/2043|1690/1932|564/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1453T>G|p.Ser485Ala|1695/2013|1453/1695|485/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1426T>G|p.Ser476Ala|1426/1857|1426/1668|476/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1270T>G|p.Ser424Ala|1272/1590|1270/1512|424/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1153T>G|p.Ser385Ala|1294/1725|1153/1395|385/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1060T>G|p.Ser354Ala|1153/1584|1060/1302|354/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1153T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1060T>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1060T>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*38T>G|||||38|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*885T>G|||||54039|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*885T>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.253T>G||||||
22	45258234	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1691C>G|p.Ser564Cys|1691/2043|1691/1932|564/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1691C>G|p.Ser564Cys|1691/2043|1691/1932|564/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1454C>G|p.Ser485Cys|1696/2013|1454/1695|485/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1427C>G|p.Ser476Cys|1427/1857|1427/1668|476/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1271C>G|p.Ser424Cys|1273/1590|1271/1512|424/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1154C>G|p.Ser385Cys|1295/1725|1154/1395|385/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1061C>G|p.Ser354Cys|1154/1584|1061/1302|354/433||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1154C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1061C>G||||||,G|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1061C>G||||||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*39C>G|||||39|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*886C>G|||||54040|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*886C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.254C>G||||||
22	45258284	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1741G>C|p.Glu581Gln|1741/2043|1741/1932|581/643||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1741G>C|p.Glu581Gln|1741/2043|1741/1932|581/643||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1504G>C|p.Glu502Gln|1746/2013|1504/1695|502/564||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1477G>C|p.Glu493Gln|1477/1857|1477/1668|493/555||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1321G>C|p.Glu441Gln|1323/1590|1321/1512|441/503||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1204G>C|p.Glu402Gln|1345/1725|1204/1395|402/464||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1111G>C|p.Glu371Gln|1204/1584|1111/1302|371/433||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1204G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1111G>C||||||,C|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1111G>C||||||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*89G>C|||||89|,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*936G>C|||||54090|,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*936G>C||||||,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.304G>C||||||
22	45258296	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1753G>A|p.Glu585Lys|1753/2043|1753/1932|585/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1753G>A|p.Glu585Lys|1753/2043|1753/1932|585/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1516G>A|p.Glu506Lys|1758/2013|1516/1695|506/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1489G>A|p.Glu497Lys|1489/1857|1489/1668|497/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1333G>A|p.Glu445Lys|1335/1590|1333/1512|445/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1216G>A|p.Glu406Lys|1357/1725|1216/1395|406/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1123G>A|p.Glu375Lys|1216/1584|1123/1302|375/433||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|12/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|10/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|13/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|9/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|8/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000389774|protein_coding|11/13|c.1216G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|8/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|7/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|11/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|9/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|10/12|c.1123G>A||||||,A|sequence_feature|LOW|ARHGAP8|ENSG00000241484|domain:Rho-GAP|ENST00000356099|protein_coding|12/12|c.1123G>A||||||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*948G>A|||||54102|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*948G>A||||||,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.316G>A||||||
22	45258324	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1781C>T|p.Pro594Leu|1781/2043|1781/1932|594/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1781C>T|p.Pro594Leu|1781/2043|1781/1932|594/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1544C>T|p.Pro515Leu|1786/2013|1544/1695|515/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1517C>T|p.Pro506Leu|1517/1857|1517/1668|506/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1361C>T|p.Pro454Leu|1363/1590|1361/1512|454/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1244C>T|p.Pro415Leu|1385/1725|1244/1395|415/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1151C>T|p.Pro384Leu|1244/1584|1151/1302|384/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*129C>T|||||129|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*976C>T|||||54130|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*976C>T||||||,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.344C>T||||||
22	45258333	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1790C>G|p.Pro597Arg|1790/2043|1790/1932|597/643||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1790C>G|p.Pro597Arg|1790/2043|1790/1932|597/643||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1553C>G|p.Pro518Arg|1795/2013|1553/1695|518/564||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1526C>G|p.Pro509Arg|1526/1857|1526/1668|509/555||,G|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1370C>G|p.Pro457Arg|1372/1590|1370/1512|457/503||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1253C>G|p.Pro418Arg|1394/1725|1253/1395|418/464||,G|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1160C>G|p.Pro387Arg|1253/1584|1160/1302|387/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*138C>G|||||138|,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*985C>G|||||54139|,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*985C>G||||||,G|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron|2/2|n.353C>G||||||
22	45258344	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1801G>A|p.Gly601Ser|1801/2043|1801/1932|601/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1801G>A|p.Gly601Ser|1801/2043|1801/1932|601/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1564G>A|p.Gly522Ser|1806/2013|1564/1695|522/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1537G>A|p.Gly513Ser|1537/1857|1537/1668|513/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1381G>A|p.Gly461Ser|1383/1590|1381/1512|461/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1264G>A|p.Gly422Ser|1405/1725|1264/1395|422/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1171G>A|p.Gly391Ser|1264/1584|1171/1302|391/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*149G>A|||||149|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*996G>A|||||54150|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>A|||||1|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*996G>A||||||
22	45258373	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1830G>C|p.Arg610Ser|1830/2043|1830/1932|610/643||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1830G>C|p.Arg610Ser|1830/2043|1830/1932|610/643||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1593G>C|p.Arg531Ser|1835/2013|1593/1695|531/564||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1566G>C|p.Arg522Ser|1566/1857|1566/1668|522/555||,C|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1410G>C|p.Arg470Ser|1412/1590|1410/1512|470/503||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1293G>C|p.Arg431Ser|1434/1725|1293/1395|431/464||,C|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1200G>C|p.Arg400Ser|1293/1584|1200/1302|400/433||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*178G>C|||||178|,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1025G>C|||||54179|,C|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>C|||||30|,C|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1025G>C||||||
22	45258401	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1858C>T|p.Arg620Trp|1858/2043|1858/1932|620/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1858C>T|p.Arg620Trp|1858/2043|1858/1932|620/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1621C>T|p.Arg541Trp|1863/2013|1621/1695|541/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1594C>T|p.Arg532Trp|1594/1857|1594/1668|532/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1438C>T|p.Arg480Trp|1440/1590|1438/1512|480/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1321C>T|p.Arg441Trp|1462/1725|1321/1395|441/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1228C>T|p.Arg410Trp|1321/1584|1228/1302|410/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*206C>T|||||206|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1053C>T|||||54207|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||58|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1053C>T||||||
22	45258402	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1859G>A|p.Arg620Gln|1859/2043|1859/1932|620/643||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1859G>A|p.Arg620Gln|1859/2043|1859/1932|620/643||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1622G>A|p.Arg541Gln|1864/2013|1622/1695|541/564||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1595G>A|p.Arg532Gln|1595/1857|1595/1668|532/555||,A|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1439G>A|p.Arg480Gln|1441/1590|1439/1512|480/503||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1322G>A|p.Arg441Gln|1463/1725|1322/1395|441/464||,A|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1229G>A|p.Arg410Gln|1322/1584|1229/1302|410/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*207G>A|||||207|,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1054G>A|||||54208|,A|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>A|||||59|,A|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1054G>A||||||
22	45258414	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1871C>T|p.Thr624Met|1871/2043|1871/1932|624/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1871C>T|p.Thr624Met|1871/2043|1871/1932|624/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1634C>T|p.Thr545Met|1876/2013|1634/1695|545/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1607C>T|p.Thr536Met|1607/1857|1607/1668|536/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1451C>T|p.Thr484Met|1453/1590|1451/1512|484/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1334C>T|p.Thr445Met|1475/1725|1334/1395|445/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1241C>T|p.Thr414Met|1334/1584|1241/1302|414/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*219C>T|||||219|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1066C>T|||||54220|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363C>T|||||71|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1066C>T||||||
22	45258427	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000352766|protein_coding|17/17|c.1884G>T|p.Lys628Asn|1884/2043|1884/1932|628/643||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000517296|protein_coding|17/17|c.1884G>T|p.Lys628Asn|1884/2043|1884/1932|628/643||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000361473|protein_coding|15/15|c.1647G>T|p.Lys549Asn|1889/2013|1647/1695|549/564||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389773|protein_coding|15/15|c.1620G>T|p.Lys540Asn|1620/1857|1620/1668|540/555||,T|missense_variant|MODERATE|PRR5-ARHGAP8|ENSG00000248405|transcript|ENST00000515632|protein_coding|13/13|c.1464G>T|p.Lys488Asn|1466/1590|1464/1512|488/503||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000389774|protein_coding|13/13|c.1347G>T|p.Lys449Asn|1488/1725|1347/1395|449/464||,T|missense_variant|MODERATE|ARHGAP8|ENSG00000241484|transcript|ENST00000356099|protein_coding|12/12|c.1254G>T|p.Lys418Asn|1347/1584|1254/1302|418/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000336963|protein_coding|11/11|c.*232G>T|||||232|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1079G>T|||||54233|,T|downstream_gene_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000469342|retained_intron||n.*363G>T|||||84|,T|non_coding_exon_variant|MODIFIER|ARHGAP8|ENSG00000241484|transcript|ENST00000389772|nonsense_mediated_decay|10/10|n.*1079G>T||||||
22	45279003	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.1559C>T|p.Thr520Ile|1710/3671|1559/1596|520/531||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.947C>T|p.Thr316Ile|1625/3586|947/984|316/327||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.1433C>T|p.Thr478Ile|1502/3460|1433/1470|478/489||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.1397C>T|p.Thr466Ile|1572/1814|1397/1434|466/477||,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011C>T|||||4921|
22	45279034	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|13/13|c.1528G>A|p.Gly510Arg|1679/3671|1528/1596|510/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|14/14|c.916G>A|p.Gly306Arg|1594/3586|916/984|306/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|13/13|c.1402G>A|p.Gly468Arg|1471/3460|1402/1470|468/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|13/13|c.1366G>A|p.Gly456Arg|1541/1814|1366/1434|456/477||,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding||c.*1011G>A|||||4890|
22	45283971	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|10/13|c.1069G>A|p.Ala357Thr|1220/3671|1069/1596|357/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|11/14|c.457G>A|p.Ala153Thr|1135/3586|457/984|153/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|10/13|c.943G>A|p.Ala315Thr|1012/3460|943/1470|315/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|10/13|c.907G>A|p.Ala303Thr|1082/1814|907/1434|303/477||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000313237|protein_coding|10/13|c.1069G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000396103|protein_coding|10/13|c.943G>A||||||,T|sequence_feature|LOW|PHF21B|ENSG00000056487|zinc_finger_region:PHD-type|ENST00000404079|protein_coding|10/13|c.907G>A||||||,T|3_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|9/9|c.*11G>A|||||11|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding||c.*557G>A|||||1682|WARNING_TRANSCRIPT_INCOMPLETE
22	45287218	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|8/13|c.983A>G|p.Tyr328Cys|1134/3671|983/1596|328/531||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|9/14|c.371A>G|p.Tyr124Cys|1049/3586|371/984|124/327||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|8/13|c.857A>G|p.Tyr286Cys|926/3460|857/1470|286/489||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|8/13|c.821A>G|p.Tyr274Cys|996/1814|821/1434|274/477||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|8/9|c.821A>G|p.Tyr274Cys|959/1069|821/873|274/290||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|6/7|c.371A>G|p.Tyr124Cys|515/557|371/413|124/136||WARNING_TRANSCRIPT_INCOMPLETE
22	45291948	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|6/13|c.847G>A|p.Val283Ile|998/3671|847/1596|283/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|7/14|c.235G>A|p.Val79Ile|913/3586|235/984|79/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|6/13|c.721G>A|p.Val241Ile|790/3460|721/1470|241/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|6/13|c.685G>A|p.Val229Ile|860/1814|685/1434|229/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|6/9|c.685G>A|p.Val229Ile|823/1069|685/873|229/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|4/7|c.235G>A|p.Val79Ile|379/557|235/413|79/136||WARNING_TRANSCRIPT_INCOMPLETE
22	45309727	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/13|c.806G>A|p.Arg269Gln|957/3671|806/1596|269/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|6/14|c.194G>A|p.Arg65Gln|872/3586|194/984|65/327||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|5/13|c.680G>A|p.Arg227Gln|749/3460|680/1470|227/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|5/13|c.644G>A|p.Arg215Gln|819/1814|644/1434|215/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|5/9|c.644G>A|p.Arg215Gln|782/1069|644/873|215/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|3/7|c.194G>A|p.Arg65Gln|338/557|194/413|65/136||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding||c.*750G>A|||||69|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553G>A|||||2474|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||2608|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||2748|
22	45309851	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/13|c.682A>G|p.Ile228Val|833/3671|682/1596|228/531||,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553A>G|||||2350|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508A>G|||||2484|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338A>G|||||2624|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/13|c.79-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/12|c.565-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/12|c.529-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/8|c.529-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/6|c.79-9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/4|c.529-9A>G||||||WARNING_TRANSCRIPT_INCOMPLETE
22	45309892	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|5/13|c.641C>G|p.Thr214Ser|792/3671|641/1596|214/531||,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript||n.*553C>G|||||2309|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>G|||||2443|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>G|||||2583|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/13|c.79-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/12|c.565-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/12|c.529-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/8|c.529-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/6|c.79-50C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/4|c.529-50C>G||||||WARNING_TRANSCRIPT_INCOMPLETE
22	45312245	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.479C>T|p.Ala160Val|630/3671|479/1596|160/531||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.479C>T|p.Ala160Val|548/3460|479/1470|160/489||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.443C>T|p.Ala148Val|618/1814|443/1434|148/477||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.443C>T|p.Ala148Val|581/1069|443/873|148/290||,A|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.443C>T|p.Ala148Val|618/750|443/575|148/190||WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-8C>T|||||8|,A|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-8C>T|||||8|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508C>T|||||90|,A|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>T|||||230|,A|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.509C>T||||||
22	45312306	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.418G>A|p.Ala140Thr|569/3671|418/1596|140/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.418G>A|p.Ala140Thr|487/3460|418/1470|140/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.382G>A|p.Ala128Thr|557/1814|382/1434|128/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.382G>A|p.Ala128Thr|520/1069|382/873|128/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.382G>A|p.Ala128Thr|557/750|382/575|128/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-69G>A|||||69|,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|2/7|c.-69G>A|||||69|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript||n.*508G>A|||||29|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||169|,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.448G>A||||||
22	45312345	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.379G>A|p.Gly127Ser|530/3671|379/1596|127/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.379G>A|p.Gly127Ser|448/3460|379/1470|127/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.343G>A|p.Gly115Ser|518/1814|343/1434|115/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.343G>A|p.Gly115Ser|481/1069|343/873|115/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.343G>A|p.Gly115Ser|518/750|343/575|115/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-108G>A|||||108|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||130|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-15G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.409G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.498G>A||||||
22	45312430	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.294C>G|p.Phe98Leu|445/3671|294/1596|98/531||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.294C>G|p.Phe98Leu|363/3460|294/1470|98/489||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.258C>G|p.Phe86Leu|433/1814|258/1434|86/477||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.258C>G|p.Phe86Leu|396/1069|258/873|86/290||,C|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.258C>G|p.Phe86Leu|433/750|258/575|86/190||WARNING_TRANSCRIPT_INCOMPLETE,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-193C>G||||||,C|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-193C>G|||||193|,C|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338C>G|||||45|,C|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-100C>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.324C>G||||||,C|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.413C>G||||||
22	45312455	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.269G>A|p.Arg90Gln|420/3671|269/1596|90/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.269G>A|p.Arg90Gln|338/3460|269/1470|90/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.233G>A|p.Arg78Gln|408/1814|233/1434|78/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.233G>A|p.Arg78Gln|371/1069|233/873|78/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.233G>A|p.Arg78Gln|408/750|233/575|78/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-218G>A|||||218|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||20|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-125G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.299G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.388G>A||||||
22	45312474	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000313237|protein_coding|4/13|c.250G>A|p.Val84Ile|401/3671|250/1596|84/531||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000396103|protein_coding|4/13|c.250G>A|p.Val84Ile|319/3460|250/1470|84/489||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000404079|protein_coding|4/13|c.214G>A|p.Val72Ile|389/1814|214/1434|72/477||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000447824|protein_coding|4/9|c.214G>A|p.Val72Ile|352/1069|214/873|72/290||,T|missense_variant|MODERATE|PHF21B|ENSG00000056487|transcript|ENST00000420689|protein_coding|4/5|c.214G>A|p.Val72Ile|389/750|214/575|72/190||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000403565|protein_coding|5/14|c.-237G>A|||||237|,T|downstream_gene_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000474327|processed_transcript||n.*338G>A|||||1|,T|intron_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000414269|protein_coding|1/6|c.-93-144G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000490679|processed_transcript|4/4|n.280G>A||||||,T|non_coding_exon_variant|MODIFIER|PHF21B|ENSG00000056487|transcript|ENST00000460507|processed_transcript|4/4|n.369G>A||||||
22	45567544	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|3/8|c.133C>T|p.Arg45Cys|599/5233|133/1407|45/468||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|4/9|c.49C>T|p.Arg17Cys|610/2059|49/1323|17/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding|4/4|c.133C>T|p.Arg45Cys|575/579|133/137|45/44||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/4|c.133C>T|p.Arg45Cys|440/537|133/230|45/75||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|4/9|c.49C>T|p.Arg17Cys|446/1895|49/1323|17/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|2/5|c.133C>T|p.Arg45Cys|140/543|133/536|45/177||WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/7|c.-431C>T|||||6985|,T|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/5|n.*230C>T|||||652|,T|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/4|n.*230C>T|||||652|,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript||n.-1C>T|||||4155|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584C>T|||||24|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531C>T|||||644|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000445721|protein_coding||c.*443C>T|||||3456|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550C>T|||||520|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000432340|protein_coding||c.*551C>T|||||3473|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.124+6905C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron|3/3|n.443C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|4/5|n.*230C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript|4/4|n.348C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/4|n.*230C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|2/5|n.192C>T||||||
22	45571887	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|4/8|c.266C>T|p.Ser89Leu|732/5233|266/1407|89/468||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|5/9|c.182C>T|p.Ser61Leu|743/2059|182/1323|61/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|5/9|c.182C>T|p.Ser61Leu|579/1895|182/1323|61/440||,T|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|3/5|c.266C>T|p.Ser89Leu|273/543|266/536|89/177||WARNING_TRANSCRIPT_INCOMPLETE,T|splice_region_variant&non_coding_exon_variant|LOW|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|5/5|n.*363C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|compositionally_biased_region:Gly-rich|ENST00000347635|protein_coding|4/8|c.266C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|5/8|c.266C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|4/8|c.266C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|compositionally_biased_region:Gly-rich|ENST00000396096|protein_coding|5/9|c.182C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|6/9|c.182C>T||||||,T|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|5/9|c.182C>T||||||,T|3_prime_UTR_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay|5/5|n.*363C>T|||||4995|,T|upstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.-1C>T|||||2984|,T|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron||n.-1C>T|||||1693|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579C>T|||||4339|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584C>T|||||4367|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron||n.*986C>T|||||3800|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461437|processed_transcript||n.*531C>T|||||4987|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript||n.*431C>T|||||4260|,T|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550C>T|||||4863|,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-410-2232C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.154-2232C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.125-4214C>T||||||,T|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*251-2232C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|4/5|n.554C>T||||||,T|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript|1/2|n.189C>T||||||
22	45571926	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000347635|protein_coding|4/8|c.305G>A|p.Ser102Asn|771/5233|305/1407|102/468||,A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000407019|protein_coding|5/9|c.221G>A|p.Ser74Asn|782/2059|221/1323|74/440||,A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000396096|protein_coding|5/9|c.221G>A|p.Ser74Asn|618/1895|221/1323|74/440||,A|missense_variant|MODERATE|NUP50|ENSG00000093000|transcript|ENST00000422489|protein_coding|3/5|c.305G>A|p.Ser102Asn|312/543|305/536|102/177||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|5/8|c.305G>A||||||,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000347635|protein_coding|4/8|c.305G>A||||||,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|6/9|c.221G>A||||||,A|sequence_feature|LOW|NUP50|ENSG00000093000|region_of_interest:5_X_2_AA_repeats_of_F-G|ENST00000396096|protein_coding|5/9|c.221G>A||||||,A|upstream_gene_variant|MODIFIER|CTA-268H5.12|ENSG00000273353|transcript|ENST00000610217|sense_intronic||n.-1G>A|||||2945|,A|upstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000469163|retained_intron||n.-1G>A|||||1654|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000424634|protein_coding||c.*579G>A|||||4378|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000417702|protein_coding||c.*584G>A|||||4406|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000497960|retained_intron||n.*986G>A|||||3839|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000434760|nonsense_mediated_decay||n.*400G>A|||||39|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000484186|processed_transcript||n.*431G>A|||||4299|,A|downstream_gene_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000461194|processed_transcript||n.*550G>A|||||4902|,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000425733|protein_coding|3/6|c.-410-2193G>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000430547|protein_coding|3/3|c.154-2193G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000493456|processed_transcript|1/4|n.125-4175G>A||||||,A|intron_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000419387|nonsense_mediated_decay|3/3|n.*251-2193G>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000486184|processed_transcript|4/5|n.593G>A||||||,A|non_coding_exon_variant|MODIFIER|NUP50|ENSG00000093000|transcript|ENST00000491860|processed_transcript|1/2|n.228G>A||||||
22	45595882	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|8/10|c.902G>A|p.Arg301Gln|1047/2723|902/1230|301/409||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|8/10|c.887G>A|p.Arg296Gln|953/8119|887/1215|296/404||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|6/8|c.542G>A|p.Arg181Gln|542/2218|542/870|181/289||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|8/10|c.785G>A|p.Arg262Gln|947/2623|785/1113|262/370||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|8/10|c.833G>A|p.Arg278Gln|937/1363|833/1161|278/386||,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000483374|retained_intron||n.-1G>A|||||1968|,T|downstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.*66G>A|||||953|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay||n.*213G>A|||||3130|,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|7/9|n.1173G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000498418|retained_intron|1/3|n.209G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript|2/4|n.126G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript|2/4|n.188G>A||||||
22	45601715	.	C	T	.	.	ANN=T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000251993|protein_coding|3/10|c.310G>A|p.Asp104Asn|455/2723|310/1230|104/409||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000336156|protein_coding|3/10|c.295G>A|p.Asp99Asn|361/8119|295/1215|99/404||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000423262|protein_coding|1/8|c.16G>A|p.Asp6Asn|16/2218|16/870|6/289||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000391627|protein_coding|3/10|c.193G>A|p.Asp65Asn|355/2623|193/1113|65/370||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000443310|protein_coding|3/10|c.241G>A|p.Asp81Asn|345/1363|241/1161|81/386||,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000414854|protein_coding|3/5|c.193G>A|p.Asp65Asn|339/556|193/410|65/135||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|KIAA0930|ENSG00000100364|transcript|ENST00000424508|protein_coding|3/5|c.241G>A|p.Asp81Asn|410/625|241/456|81/151||WARNING_TRANSCRIPT_NO_STOP_CODON,T|3_prime_UTR_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|3/7|n.*192G>A|||||1852|,T|upstream_gene_variant|MODIFIER|MIR1249|ENSG00000221598|transcript|ENST00000408671|miRNA||n.-1G>A|||||4815|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000474515|processed_transcript||n.-1G>A|||||3150|,T|upstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000493003|processed_transcript||n.-1G>A|||||3119|,T|downstream_gene_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000417906|nonsense_mediated_decay||n.*294G>A|||||50|,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000488038|retained_intron|2/9|n.581G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000440039|nonsense_mediated_decay|3/7|n.*192G>A||||||,T|non_coding_exon_variant|MODIFIER|KIAA0930|ENSG00000100364|transcript|ENST00000486640|processed_transcript|3/5|n.396G>A||||||
22	45681947	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/6|c.178G>A|p.Glu60Lys|210/1051|178/864|60/287||,A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/4|c.178G>A|p.Glu60Lys|201/627|178/501|60/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.178G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.178G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.178G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.178G>A||||||
22	45681971	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|2/6|c.202G>A|p.Asp68Asn|234/1051|202/864|68/287||,A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/4|c.202G>A|p.Asp68Asn|225/627|202/501|68/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.202G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.202G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.202G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.202G>A||||||
22	45683103	.	T	G	.	.	ANN=G|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.259T>G|p.Ser87Ala|291/1051|259/864|87/287||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.259T>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.259T>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.259T>G||||||,G|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.259T>G||||||,G|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1126T>G||||||
22	45683116	.	A	T	.	.	ANN=T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.272A>T|p.Gln91Leu|304/1051|272/864|91/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.272A>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.272A>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.272A>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.272A>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1139A>T||||||
22	45683200	.	T	C	.	.	ANN=C|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.356T>C|p.Ile119Thr|388/1051|356/864|119/287||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.356T>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.356T>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.356T>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.356T>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1223T>C||||||
22	45683280	.	C	T	.	.	ANN=T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.436C>T|p.Pro146Ser|468/1051|436/864|146/287||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.436C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.436C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.436C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.436C>T||||||,T|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1303C>T||||||
22	45683291	.	G	C	.	.	ANN=C|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.447G>C|p.Gln149His|479/1051|447/864|149/287||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.447G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.447G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.447G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.447G>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1314G>C||||||
22	45683304	.	G	C	.	.	ANN=C|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|3/6|c.460G>C|p.Ala154Pro|492/1051|460/864|154/287||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|5/6|c.460G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|2/6|c.460G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|4/6|c.460G>C||||||,C|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Lumenal|ENST00000216211|protein_coding|3/6|c.460G>C||||||,C|intron_variant|MODIFIER|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|2/3|c.208+1327G>C||||||
22	45689118	.	G	A	.	.	ANN=A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|5/6|c.628G>A|p.Val210Ile|660/1051|628/864|210/287||,A|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|3/4|c.265G>A|p.Val89Ile|288/627|265/501|89/166||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000216211|protein_coding|5/6|c.628G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000216211|protein_coding|6/6|c.628G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000396082|protein_coding|3/4|c.265G>A||||||,A|sequence_feature|LOW|UPK3A|ENSG00000100373|transmembrane_region:Transmembrane_region|ENST00000396082|protein_coding|4/4|c.265G>A||||||
22	45691521	.	C	T	.	.	ANN=T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000216211|protein_coding|6/6|c.785C>T|p.Ser262Leu|817/1051|785/864|262/287||,T|missense_variant|MODERATE|UPK3A|ENSG00000100373|transcript|ENST00000396082|protein_coding|4/4|c.422C>T|p.Ser141Leu|445/627|422/501|141/166||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Cytoplasmic|ENST00000216211|protein_coding|6/6|c.785C>T||||||,T|sequence_feature|LOW|UPK3A|ENSG00000100373|topological_domain:Cytoplasmic|ENST00000396082|protein_coding|4/4|c.422C>T||||||
22	45719183	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/10|c.175G>A|p.Val59Ile|1009/3458|175/1074|59/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/9|c.175G>A|p.Val59Ile|521/1776|175/1074|59/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/5|c.175G>A|p.Val59Ile|244/1612|175/609|59/202||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/4|c.175G>A|p.Val59Ile|277/521|175/419|59/138||WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583G>A|||||876|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549G>A|||||919|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/4|n.231G>A||||||
22	45719240	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|4/10|c.232C>T|p.Arg78Trp|1066/3458|232/1074|78/357||,T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|3/9|c.232C>T|p.Arg78Trp|578/1776|232/1074|78/357||,T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|3/5|c.232C>T|p.Arg78Trp|301/1612|232/609|78/202||,T|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|3/4|c.232C>T|p.Arg78Trp|334/521|232/419|78/138||WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000452238|protein_coding||c.*583C>T|||||933|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000424557|protein_coding||c.*549C>T|||||976|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|3/4|n.288C>T||||||
22	45723765	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.343A>G|p.Met115Val|1177/3458|343/1074|115/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.343A>G|p.Met115Val|689/1776|343/1074|115/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.343A>G|p.Met115Val|412/1612|343/609|115/202||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.343A>G|p.Met115Val|445/521|343/419|115/138||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1A>G|||||1264|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1A>G|||||1751|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1A>G|||||1760|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315A>G|||||1760|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1A>G|||||2573|,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.399A>G||||||
22	45723799	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.377G>A|p.Arg126Gln|1211/3458|377/1074|126/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.377G>A|p.Arg126Gln|723/1776|377/1074|126/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.377G>A|p.Arg126Gln|446/1612|377/609|126/202||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.377G>A|p.Arg126Gln|479/521|377/419|126/138||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>A|||||1230|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>A|||||1717|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>A|||||1726|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>A|||||1726|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>A|||||2539|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.433G>A||||||
22	45723807	.	G	C	.	.	ANN=C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.385G>C|p.Val129Leu|1219/3458|385/1074|129/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.385G>C|p.Val129Leu|731/1776|385/1074|129/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.385G>C|p.Val129Leu|454/1612|385/609|129/202||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding|4/4|c.385G>C|p.Val129Leu|487/521|385/419|129/138||WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>C|||||1222|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>C|||||1709|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>C|||||1718|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>C|||||1718|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>C|||||2531|,C|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.441G>C||||||
22	45723846	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.424G>A|p.Ala142Thr|1258/3458|424/1074|142/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.424G>A|p.Ala142Thr|770/1776|424/1074|142/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.424G>A|p.Ala142Thr|493/1612|424/609|142/202||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>A|||||1183|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>A|||||1670|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>A|||||1679|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>A|||||1679|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>A|||||2492|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||5|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.480G>A||||||
22	45723902	.	G	C	.	.	ANN=C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|5/10|c.480G>C|p.Gln160His|1314/3458|480/1074|160/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|4/9|c.480G>C|p.Gln160His|826/1776|480/1074|160/357||,C|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding|4/5|c.480G>C|p.Gln160His|549/1612|480/609|160/202||,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.-1G>C|||||1127|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript||n.-1G>C|||||1614|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.-1G>C|||||1623|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.-315G>C|||||1623|,C|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron||n.-1G>C|||||2436|,C|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>C|||||61|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron|4/4|n.536G>C||||||
22	45726601	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|6/10|c.640G>A|p.Ala214Thr|1474/3458|640/1074|214/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|5/9|c.640G>A|p.Ala214Thr|986/1776|640/1074|214/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|2/6|c.94G>A|p.Ala32Thr|408/930|94/528|32/175||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1G>A|||||4305|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1G>A|||||4496|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678G>A|||||1308|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756G>A|||||2479|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||2760|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354G>A|||||1|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|2/3|n.417G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|2/3|n.408G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|1/4|n.264G>A||||||
22	45728370	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/10|c.716G>A|p.Arg239His|1550/3458|716/1074|239/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/9|c.716G>A|p.Arg239His|1062/1776|716/1074|239/357||,A|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/6|c.170G>A|p.Arg57His|484/930|170/528|57/175||,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1G>A|||||2536|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1G>A|||||2727|,A|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1G>A|||||3906|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678G>A|||||3077|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756G>A|||||4248|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521G>A|||||4529|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354G>A|||||1770|,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|3/3|n.493G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript|3/3|n.509G>A||||||,A|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/4|n.340G>A||||||
22	45728540	.	C	G	.	.	ANN=G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding|7/10|c.886C>G|p.Pro296Ala|1720/3458|886/1074|296/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding|6/9|c.886C>G|p.Pro296Ala|1232/1776|886/1074|296/357||,G|missense_variant|MODERATE|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding|3/6|c.340C>G|p.Pro114Ala|654/930|340/528|114/175||,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.-1C>G|||||2366|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.-1C>G|||||2557|,G|upstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.-1C>G|||||3736|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405673|protein_coding||c.*678C>G|||||3247|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000477714|retained_intron||n.*756C>G|||||4418|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000427777|protein_coding||c.*521C>G|||||4699|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476478|processed_transcript||n.*354C>G|||||1940|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000476754|processed_transcript||n.*675C>G|||||4|,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000459849|processed_transcript|3/3|n.663C>G||||||,G|non_coding_exon_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000487732|retained_intron|2/4|n.510C>G||||||
22	45740462	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|25/25|c.3683G>C|p.Ser1228Thr|3683/4201|3683/3708|1228/1235||,G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|23/23|c.3461G>C|p.Ser1154Thr|3513/3636|3461/3486|1154/1161||,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908C>G|||||2626|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420C>G|||||3820|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000405548|protein_coding||c.*842C>G|||||4088|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657C>G|||||3820|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712C>G|||||3735|,G|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649C>G|||||3699|
22	45741416	.	T	A	.	.	ANN=A|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|24/25|c.3530A>T|p.Gln1177Leu|3530/4201|3530/3708|1177/1235||,A|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|22/23|c.3308A>T|p.Gln1103Leu|3360/3636|3308/3486|1103/1161||,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000216214|protein_coding||c.*1908T>A|||||3580|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000441876|protein_coding||c.*1420T>A|||||4774|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000483102|processed_transcript||n.*657T>A|||||4774|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000462361|retained_intron||n.*712T>A|||||4689|,A|downstream_gene_variant|MODIFIER|FAM118A|ENSG00000100376|transcript|ENST00000479180|processed_transcript||n.*649T>A|||||4653|
22	45749966	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|21/25|c.3165C>G|p.Phe1055Leu|3165/4201|3165/3708|1055/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/23|c.3165C>G|p.Phe1055Leu|3217/3636|3165/3486|1055/1161||
22	45749983	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|21/25|c.3148C>A|p.Leu1050Met|3148/4201|3148/3708|1050/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|21/23|c.3148C>A|p.Leu1050Met|3200/3636|3148/3486|1050/1161||
22	45755814	.	T	G	.	.	ANN=G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|18/25|c.2733A>C|p.Glu911Asp|2733/4201|2733/3708|911/1235||,G|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|18/23|c.2733A>C|p.Glu911Asp|2785/3636|2733/3486|911/1161||
22	45767391	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2273G>A|p.Arg758Gln|2273/4201|2273/3708|758/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2273G>A|p.Arg758Gln|2325/3636|2273/3486|758/1161||
22	45767421	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|14/25|c.2243G>A|p.Cys748Tyr|2243/4201|2243/3708|748/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|14/23|c.2243G>A|p.Cys748Tyr|2295/3636|2243/3486|748/1161||
22	45789642	.	A	C	.	.	ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|9/25|c.1417T>G|p.Phe473Val|1417/4201|1417/3708|473/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|9/23|c.1417T>G|p.Phe473Val|1469/3636|1417/3486|473/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1417T>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1417T>G||||||
22	45792291	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|7/25|c.1189C>G|p.Gln397Glu|1189/4201|1189/3708|397/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|7/23|c.1189C>G|p.Gln397Glu|1241/3636|1189/3486|397/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1189C>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1189C>G||||||
22	45792359	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|7/25|c.1121G>A|p.Arg374His|1121/4201|1121/3708|374/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|7/23|c.1121G>A|p.Arg374His|1173/3636|1121/3486|374/1161||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1121G>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1121G>A||||||
22	45795041	.	A	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|6/25|c.1047T>A|p.Ser349Arg|1047/4201|1047/3708|349/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|6/23|c.1047T>A|p.Ser349Arg|1099/3636|1047/3486|349/1161||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.1047T>A||||||,T|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.1047T>A||||||
22	45795126	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|6/25|c.962A>G|p.Asp321Gly|962/4201|962/3708|321/1235||,C|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|6/23|c.962A>G|p.Asp321Gly|1014/3636|962/3486|321/1161||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|9/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|7/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|5/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|6/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|4/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000357450|protein_coding|8/25|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|5/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|9/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|6/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|4/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|7/23|c.962A>G||||||,C|sequence_feature|LOW|SMC1B|ENSG00000077935|coiled-coil_region|ENST00000404354|protein_coding|8/23|c.962A>G||||||
22	45802704	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|3/25|c.341G>A|p.Arg114His|341/4201|341/3708|114/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|3/23|c.341G>A|p.Arg114His|393/3636|341/3486|114/1161||
22	45804621	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000357450|protein_coding|2/25|c.268G>A|p.Glu90Lys|268/4201|268/3708|90/1235||,T|missense_variant|MODERATE|SMC1B|ENSG00000077935|transcript|ENST00000404354|protein_coding|2/23|c.268G>A|p.Glu90Lys|320/3636|268/3486|90/1161||,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000538017|protein_coding||c.-210C>T|||||4953|,T|upstream_gene_variant|MODIFIER|RIBC2|ENSG00000128408|transcript|ENST00000342894|protein_coding||c.-415C>T|||||4951|
22	45914595	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|2/16|c.113C>T|p.Ala38Val|216/2355|113/2166|38/721||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|2/5|c.137C>T|p.Ala46Val|137/568|137/568|46/188||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|2/5|c.113C>T|p.Ala38Val|267/671|113/517|38/171||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|2/20|c.113C>T|p.Ala38Val|260/2947|113/2112|38/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|2/15|c.113C>T|p.Ala38Val|216/2251|113/2052|38/683||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|2/17|c.113C>T|p.Ala38Val|208/2896|113/2112|38/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|2/15|c.113C>T|p.Ala38Val|129/2531|113/1806|38/601||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|2/15|c.113C>T|p.Ala38Val|123/2348|113/1701|38/566||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000450975|protein_coding|2/2|c.140C>T|p.Ala47Val|388/459|140/211|47/69||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000262722|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|2/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|2/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000327858|protein_coding|3/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|3/17|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000442170|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|2/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_1|ENST00000340923|protein_coding|3/15|c.113C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|3/15|c.113C>T||||||,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding|3/4|c.-14C>T|||||14|WARNING_TRANSCRIPT_NO_STOP_CODON,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding|2/3|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|5_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|1/4|c.-14C>T|||||14|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding||c.-1C>T|||||68|WARNING_TRANSCRIPT_INCOMPLETE
22	45923827	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/16|c.536A>G|p.Gln179Arg|639/2355|536/2166|179/721||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/5|c.446A>G|p.Gln149Arg|446/568|446/568|149/188||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/5|c.422A>G|p.Gln141Arg|576/671|422/517|141/171||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/20|c.422A>G|p.Gln141Arg|569/2947|422/2112|141/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/15|c.422A>G|p.Gln141Arg|525/2251|422/2052|141/683||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/17|c.422A>G|p.Gln141Arg|517/2896|422/2112|141/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/15|c.422A>G|p.Gln141Arg|438/2531|422/1806|141/601||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/15|c.422A>G|p.Gln141Arg|432/2348|422/1701|141/566||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/4|c.296A>G|p.Gln99Arg|443/565|296/418|99/138||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/5|c.242A>G|p.Gln81Arg|242/544|242/544|81/180||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000262722|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000327858|protein_coding|4/17|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|4/17|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000442170|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:Anaphylatoxin-like_3|ENST00000340923|protein_coding|4/15|c.422A>G||||||,G|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|4/15|c.422A>G||||||,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||4946|,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512A>G|||||2269|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572A>G|||||2384|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/8|n.104A>G||||||
22	45923886	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|5/16|c.595A>G|p.Thr199Ala|698/2355|595/2166|199/721||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|4/5|c.505A>G|p.Thr169Ala|505/568|505/568|169/188||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/5|c.481A>G|p.Thr161Ala|635/671|481/517|161/171||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|4/20|c.481A>G|p.Thr161Ala|628/2947|481/2112|161/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|4/15|c.481A>G|p.Thr161Ala|584/2251|481/2052|161/683||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|4/17|c.481A>G|p.Thr161Ala|576/2896|481/2112|161/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|4/15|c.481A>G|p.Thr161Ala|497/2531|481/1806|161/601||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|4/15|c.481A>G|p.Thr161Ala|491/2348|481/1701|161/566||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|3/4|c.355A>G|p.Thr119Ala|502/565|355/418|119/138||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/5|c.301A>G|p.Thr101Ala|301/544|301/544|101/180||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||4887|,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000445110|protein_coding||c.*512A>G|||||2328|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000439835|protein_coding||c.*572A>G|||||2443|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|2/8|n.163A>G||||||
22	45927150	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|6/16|c.604A>G|p.Ile202Val|707/2355|604/2166|202/721||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding|5/5|c.514A>G|p.Ile172Val|514/568|514/568|172/188||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|5/20|c.490A>G|p.Ile164Val|637/2947|490/2112|164/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|5/15|c.490A>G|p.Ile164Val|593/2251|490/2052|164/683||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|5/17|c.490A>G|p.Ile164Val|585/2896|490/2112|164/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|5/15|c.490A>G|p.Ile164Val|506/2531|490/1806|164/601||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|5/15|c.490A>G|p.Ile164Val|500/2348|490/1701|164/566||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding|4/4|c.364A>G|p.Ile122Val|511/565|364/418|122/138||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.-1A>G|||||1623|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron||n.-1A>G|||||1881|,G|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron||n.-1A>G|||||2511|,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding|4/4|c.485-1793A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|3/4|c.305-1793A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|3/8|n.172A>G||||||
22	45929694	.	A	C	.	.	ANN=C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|8/16|c.814A>C|p.Ile272Leu|917/2355|814/2166|272/721||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|7/20|c.700A>C|p.Ile234Leu|847/2947|700/2112|234/703||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|7/15|c.700A>C|p.Ile234Leu|803/2251|700/2052|234/683||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|7/17|c.700A>C|p.Ile234Leu|795/2896|700/2112|234/703||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|7/15|c.700A>C|p.Ile234Leu|716/2531|700/1806|234/601||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|7/15|c.700A>C|p.Ile234Leu|710/2348|700/1701|234/566||,C|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000451475|protein_coding|5/5|c.460A>C|p.Ile154Leu|460/544|460/544|154/180||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|6/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000262722|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|6/17|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000327858|protein_coding|7/17|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|7/17|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|6/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000442170|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|6/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_2|ENST00000340923|protein_coding|7/15|c.700A>C||||||,C|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|7/15|c.700A>C||||||,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000411478|protein_coding||c.*568A>C|||||2490|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000455233|protein_coding||c.*671A>C|||||719|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000454279|protein_coding||c.*565A>C|||||2490|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|5/8|n.382A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron|2/4|n.326A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000465578|retained_intron|2/3|n.68A>C||||||,C|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000484531|retained_intron|1/2|n.34A>C||||||
22	45938088	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|11/16|c.1234G>A|p.Val412Met|1337/2355|1234/2166|412/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|10/20|c.1120G>A|p.Val374Met|1267/2947|1120/2112|374/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|10/15|c.1120G>A|p.Val374Met|1223/2251|1120/2052|374/683||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|10/17|c.1120G>A|p.Val374Met|1215/2896|1120/2112|374/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|10/15|c.1120G>A|p.Val374Met|1136/2531|1120/1806|374/601||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|10/15|c.1120G>A|p.Val374Met|1130/2348|1120/1701|374/566||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000262722|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000262722|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000327858|protein_coding|9/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000327858|protein_coding|10/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|10/17|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000442170|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000442170|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000340923|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_5|ENST00000340923|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1120G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|10/15|c.1120G>A||||||,A|3_prime_UTR_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|8/8|n.*197G>A|||||979|,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543G>A|||||929|,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay|8/8|n.*197G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|2/6|n.198G>A||||||
22	45939320	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|12/16|c.1349G>T|p.Gly450Val|1452/2355|1349/2166|450/721||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|11/20|c.1235G>T|p.Gly412Val|1382/2947|1235/2112|412/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|11/15|c.1235G>T|p.Gly412Val|1338/2251|1235/2052|412/683||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|11/17|c.1235G>T|p.Gly412Val|1330/2896|1235/2112|412/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|11/15|c.1235G>T|p.Gly412Val|1251/2531|1235/1806|412/601||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|11/15|c.1235G>T|p.Gly412Val|1245/2348|1235/1701|412/566||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|9/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000262722|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000262722|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|9/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|11/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000327858|protein_coding|10/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|11/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000327858|protein_coding|10/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|11/17|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|9/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000442170|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000442170|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|9/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|region_of_interest:Self-association_and_FN1-binding|ENST00000340923|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|11/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_6|ENST00000340923|protein_coding|10/15|c.1235G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|11/15|c.1235G>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000437711|nonsense_mediated_decay||n.*550G>T|||||1226|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460538|retained_intron||n.*543G>T|||||2161|,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|3/6|n.313G>T||||||
22	45944507	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|14/16|c.1570G>A|p.Ala524Thr|1673/2355|1570/2166|524/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|13/20|c.1456G>A|p.Ala486Thr|1603/2947|1456/2112|486/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|13/15|c.1456G>A|p.Ala486Thr|1559/2251|1456/2052|486/683||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|13/17|c.1456G>A|p.Ala486Thr|1551/2896|1456/2112|486/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|13/15|c.1456G>A|p.Ala486Thr|1472/2531|1456/1806|486/601||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|13/15|c.1456G>A|p.Ala486Thr|1466/2348|1456/1701|486/566||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|12/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000262722|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000262722|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|12/17|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000327858|protein_coding|13/17|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|13/17|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|12/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000442170|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000442170|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|12/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_8|ENST00000340923|protein_coding|13/15|c.1456G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000340923|protein_coding|13/15|c.1456G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|4/5|n.519+1423G>A||||||
22	45946488	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|15/16|c.1804G>A|p.Ala602Thr|1907/2355|1804/2166|602/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/20|c.1690G>A|p.Ala564Thr|1837/2947|1690/2112|564/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|14/15|c.1690G>A|p.Ala564Thr|1793/2251|1690/2052|564/683||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/17|c.1690G>A|p.Ala564Thr|1785/2896|1690/2112|564/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/15|c.1690G>A|p.Ala564Thr|1706/2531|1690/1806|564/601||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding|14/15|c.1690G>A|p.Ala564Thr|1700/2348|1690/1701|564/566||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1690G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1690G>A||||||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000476366|processed_transcript|5/6|n.636G>A||||||
22	45958823	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.1843C>T|p.Arg615Trp|1946/2355|1843/2166|615/721||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1729C>T|p.Arg577Trp|1832/2251|1729/2052|577/683||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11568C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11568C>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711C>T|||||4232|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1941C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11568C>T||||||,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1941C>T||||||
22	45958934	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding|16/16|c.1954G>A|p.Gly652Arg|2057/2355|1954/2166|652/721||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding|15/15|c.1840G>A|p.Gly614Arg|1943/2251|1840/2052|614/683||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-11457G>A||||||,A|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-11457G>A||||||,A|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000340923|protein_coding||c.*1711G>A|||||4343|,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|14/19|c.1698-1830G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-11457G>A||||||,A|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|14/14|c.1698-1830G>A||||||
22	45960864	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|15/20|c.1798G>T|p.Asp600Tyr|1945/2947|1798/2112|600/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000442170|protein_coding|15/15|c.1798G>T|p.Asp600Tyr|1814/2531|1798/1806|600/601||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1698-9527G>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1698-9527G>T||||||,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000402984|protein_coding||c.*2269G>T|||||1632|,T|downstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000262722|protein_coding||c.*2155G>T|||||1622|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|14/16|c.1698-9527G>T||||||
22	45970414	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|15/17|c.1721C>T|p.Thr574Met|1816/2896|1721/2112|574/703||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|14/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|15/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|domain:EGF-like_9|ENST00000327858|protein_coding|13/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|14/17|c.1721C>T||||||,T|sequence_feature|LOW|FBLN1|ENSG00000077942|disulfide_bond|ENST00000327858|protein_coding|15/17|c.1721C>T||||||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||2505|,T|intron_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|17/19|c.1825-104C>T||||||
22	45972871	.	C	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1855C>T|p.Arg619Trp|2002/2947|1855/2112|619/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1855C>T|p.Arg619Trp|1950/2896|1855/2112|619/703||,T|upstream_gene_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript||n.-1C>T|||||48|
22	45972941	.	G	T	.	.	ANN=T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1925G>T|p.Arg642Leu|2072/2947|1925/2112|642/703||,T|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1925G>T|p.Arg642Leu|2020/2896|1925/2112|642/703||,T|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript|1/2|n.23G>T||||||
22	45972983	.	C	A	.	.	ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|19/20|c.1967C>A|p.Thr656Asn|2114/2947|1967/2112|656/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|16/17|c.1967C>A|p.Thr656Asn|2062/2896|1967/2112|656/703||,A|non_coding_exon_variant|MODIFIER|FBLN1|ENSG00000077942|transcript|ENST00000460300|processed_transcript|1/2|n.65C>A||||||
22	45996280	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2066G>A|p.Arg689Gln|2213/2947|2066/2112|689/703||,A|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2066G>A|p.Arg689Gln|2161/2896|2066/2112|689/703||,A|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548C>T|||||4032|
22	45996298	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000348697|protein_coding|20/20|c.2084A>G|p.His695Arg|2231/2947|2084/2112|695/703||,G|missense_variant|MODERATE|FBLN1|ENSG00000077942|transcript|ENST00000327858|protein_coding|17/17|c.2084A>G|p.His695Arg|2179/2896|2084/2112|695/703||,G|downstream_gene_variant|MODIFIER|CTA-941F9.9|ENSG00000238120|transcript|ENST00000422971|antisense||n.*548T>C|||||4014|
22	46067998	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|1/12|c.55C>T|p.Pro19Ser|320/3329|55/1428|19/475||,T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/11|c.55C>T|p.Pro19Ser|321/3135|55/1236|19/411||,T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript||n.-1C>T|||||70|
22	46085654	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|2/12|c.179C>T|p.Ala60Val|444/3329|179/1428|60/475||,T|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/10|c.117-3222C>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|2/6|n.353C>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|2/4|n.138C>T||||||
22	46085671	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|2/12|c.196A>G|p.Arg66Gly|461/3329|196/1428|66/475||,G|intron_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|1/10|c.117-3205A>G||||||,G|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|2/6|n.370A>G||||||,G|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|2/4|n.155A>G||||||
22	46096174	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|4/12|c.404G>T|p.Gly135Val|669/3329|404/1428|135/475||,T|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|3/11|c.212G>T|p.Gly71Val|478/3135|212/1236|71/411||,T|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript||n.-1G>T|||||3679|,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000498009|processed_transcript|4/6|n.578G>T||||||,T|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000470722|processed_transcript|4/4|n.363G>T||||||
22	46125385	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/12|c.809G>A|p.Arg270Gln|1074/3329|809/1428|270/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/11|c.617G>A|p.Arg206Gln|883/3135|617/1236|206/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/5|c.65G>A|p.Arg22Gln|65/653|65/594|22/197||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/4|n.288G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/4|n.152G>A||||||
22	46125442	.	T	A	.	.	ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/12|c.866T>A|p.Leu289Gln|1131/3329|866/1428|289/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/11|c.674T>A|p.Leu225Gln|940/3135|674/1236|225/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/5|c.122T>A|p.Leu41Gln|122/653|122/594|41/197||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/4|n.345T>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/4|n.209T>A||||||
22	46125462	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|7/12|c.886G>A|p.Asp296Asn|1151/3329|886/1428|296/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|6/11|c.694G>A|p.Asp232Asn|960/3135|694/1236|232/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|1/5|c.142G>A|p.Asp48Asn|142/653|142/594|48/197||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript|3/4|n.365G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|2/4|n.229G>A||||||
22	46136372	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|9/12|c.1127G>A|p.Arg376His|1392/3329|1127/1428|376/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|8/11|c.935G>A|p.Arg312His|1201/3135|935/1236|312/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000435026|protein_coding|3/5|c.383G>A|p.Arg128His|383/653|383/594|128/197||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000451241|protein_coding|2/4|c.224G>A|p.Arg75His|225/514|224/513|75/170||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000464482|processed_transcript||n.-1G>A|||||18|,A|downstream_gene_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000476998|processed_transcript||n.*482G>A|||||1653|,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000483549|retained_intron|4/4|n.470G>A||||||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|3/6|n.316G>A||||||
22	46238914	.	A	C	.	.	ANN=C|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|11/12|c.1281A>C|p.Glu427Asp|1546/3329|1281/1428|427/475||,C|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|10/11|c.1089A>C|p.Glu363Asp|1355/3135|1089/1236|363/411||,C|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|3/4|c.234A>C|p.Glu78Asp|291/564|234/381|78/126||,C|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|5/6|n.470A>C||||||
22	46238930	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000252934|protein_coding|11/12|c.1297C>A|p.Gln433Lys|1562/3329|1297/1428|433/475||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000381061|protein_coding|10/11|c.1105C>A|p.Gln369Lys|1371/3135|1105/1236|369/411||,A|missense_variant|MODERATE|ATXN10|ENSG00000130638|transcript|ENST00000402380|protein_coding|3/4|c.250C>A|p.Gln84Lys|307/564|250/381|84/126||,A|non_coding_exon_variant|MODIFIER|ATXN10|ENSG00000130638|transcript|ENST00000493643|processed_transcript|5/6|n.486C>A||||||
22	46318884	.	G	A	.	.	ANN=A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.914C>T|p.Ala305Val|1392/2285|914/1062|305/353||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.902C>T|p.Ala301Val|1277/3919|902/1050|301/349||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.854C>T|p.Ala285Val|1309/2202|854/1002|285/333||,A|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|4/4|c.902C>T||||||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4478|
22	46319014	.	G	A	.	.	ANN=A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|4/4|c.784C>T|p.Arg262Cys|1262/2285|784/1062|262/353||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|4/4|c.772C>T|p.Arg258Cys|1147/3919|772/1050|258/349||,A|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|4/4|c.724C>T|p.Arg242Cys|1179/2202|724/1002|242/333||,A|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding||c.*669C>T|||||4348|
22	46327010	.	T	C	.	.	ANN=C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.550A>G|p.Met184Val|1028/2285|550/1062|184/353||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.538A>G|p.Met180Val|913/3919|538/1050|180/349||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.490A>G|p.Met164Val|945/2202|490/1002|164/333||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.538A>G|p.Met180Val|589/714|538/618|180/205||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521A>G|||||166|WARNING_TRANSCRIPT_NO_STOP_CODON
22	46327122	.	G	C	.	.	ANN=C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.438C>G|p.Asn146Lys|916/2285|438/1062|146/353||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.426C>G|p.Asn142Lys|801/3919|426/1050|142/349||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.378C>G|p.Asn126Lys|833/2202|378/1002|126/333||,C|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.426C>G|p.Asn142Lys|477/714|426/618|142/205||,C|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|3/4|c.426C>G||||||,C|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521C>G|||||54|WARNING_TRANSCRIPT_NO_STOP_CODON
22	46327148	.	C	T	.	.	ANN=T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000409496|protein_coding|3/4|c.412G>A|p.Asp138Asn|890/2285|412/1062|138/353||,T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000339464|protein_coding|3/4|c.400G>A|p.Asp134Asn|775/3919|400/1050|134/349||,T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410089|protein_coding|3/4|c.352G>A|p.Asp118Asn|807/2202|352/1002|118/333||,T|missense_variant|MODERATE|WNT7B|ENSG00000188064|transcript|ENST00000410058|protein_coding|3/4|c.400G>A|p.Asp134Asn|451/714|400/618|134/205||,T|sequence_feature|LOW|WNT7B|ENSG00000188064|disulfide_bond|ENST00000339464|protein_coding|3/4|c.400G>A||||||,T|downstream_gene_variant|MODIFIER|WNT7B|ENSG00000188064|transcript|ENST00000428540|protein_coding||c.*521G>A|||||28|WARNING_TRANSCRIPT_NO_STOP_CODON
22	46449810	.	C	T	.	.	ANN=T|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000333761|protein_coding|1/3|c.164G>A|p.Gly55Asp|215/1784|164/417|55/138||,T|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000396008|protein_coding|1/2|c.164G>A|p.Gly55Asp|215/2817|164/417|55/138||,T|sequence_feature|LOW|C22orf26|ENSG00000182257|compositionally_biased_region:Pro-rich|ENST00000333761|protein_coding|1/3|c.164G>A||||||,T|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000451166|antisense||n.-1C>T|||||530|,T|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000445441|antisense||n.-1C>T|||||985|,T|downstream_gene_variant|MODIFIER|RP6-109B7.5|ENSG00000273289|transcript|ENST00000608644|antisense||n.*468C>T|||||370|,T|downstream_gene_variant|MODIFIER|RP6-109B7.2|ENSG00000231010|transcript|ENST00000439423|lincRNA||n.*1181G>A|||||1810|,T|intron_variant|MODIFIER|FLJ27365|ENSG00000197182|transcript|ENST00000381051|protein_coding|1/4|c.-2+10C>T||||||,T|intron_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000416202|antisense|1/2|n.216+10C>T||||||
22	46449889	.	T	G	.	.	ANN=G|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000333761|protein_coding|1/3|c.85A>C|p.Asn29His|136/1784|85/417|29/138||,G|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000396008|protein_coding|1/2|c.85A>C|p.Asn29His|136/2817|85/417|29/138||,G|sequence_feature|LOW|C22orf26|ENSG00000182257|compositionally_biased_region:Pro-rich|ENST00000333761|protein_coding|1/3|c.85A>C||||||,G|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000451166|antisense||n.-1T>G|||||451|,G|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000445441|antisense||n.-1T>G|||||906|,G|downstream_gene_variant|MODIFIER|RP6-109B7.5|ENSG00000273289|transcript|ENST00000608644|antisense||n.*468T>G|||||449|,G|downstream_gene_variant|MODIFIER|RP6-109B7.2|ENSG00000231010|transcript|ENST00000439423|lincRNA||n.*1181A>C|||||1731|,G|intron_variant|MODIFIER|FLJ27365|ENSG00000197182|transcript|ENST00000381051|protein_coding|1/4|c.-2+89T>G||||||,G|intron_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000416202|antisense|1/2|n.216+89T>G||||||
22	46449891	.	G	A	.	.	ANN=A|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000333761|protein_coding|1/3|c.83C>T|p.Pro28Leu|134/1784|83/417|28/138||,A|missense_variant|MODERATE|C22orf26|ENSG00000182257|transcript|ENST00000396008|protein_coding|1/2|c.83C>T|p.Pro28Leu|134/2817|83/417|28/138||,A|sequence_feature|LOW|C22orf26|ENSG00000182257|compositionally_biased_region:Pro-rich|ENST00000333761|protein_coding|1/3|c.83C>T||||||,A|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000451166|antisense||n.-1G>A|||||449|,A|upstream_gene_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000445441|antisense||n.-1G>A|||||904|,A|downstream_gene_variant|MODIFIER|RP6-109B7.5|ENSG00000273289|transcript|ENST00000608644|antisense||n.*468G>A|||||451|,A|downstream_gene_variant|MODIFIER|RP6-109B7.2|ENSG00000231010|transcript|ENST00000439423|lincRNA||n.*1181C>T|||||1729|,A|intron_variant|MODIFIER|FLJ27365|ENSG00000197182|transcript|ENST00000381051|protein_coding|1/4|c.-2+91G>A||||||,A|intron_variant|MODIFIER|RP6-109B7.3|ENSG00000241990|transcript|ENST00000416202|antisense|1/2|n.216+91G>A||||||
22	46611106	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|4/8|c.245C>T|p.Thr82Ile|427/9965|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|4/8|c.245C>T|p.Thr82Ile|510/10048|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding|4/4|c.245C>T|p.Thr82Ile|417/572|245/400|82/132||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|4/8|c.245C>T|p.Thr82Ile|458/9995|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|3/7|c.245C>T|p.Thr82Ile|373/1558|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|2/5|c.245C>T|p.Thr82Ile|245/1204|245/525|82/174||,T|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|4/6|n.455C>T||||||
22	46614208	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|5/8|c.418G>A|p.Asp140Asn|600/9965|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|5/8|c.418G>A|p.Asp140Asn|683/10048|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|5/8|c.418G>A|p.Asp140Asn|631/9995|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|4/7|c.418G>A|p.Asp140Asn|546/1558|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/5|c.418G>A|p.Asp140Asn|418/1204|418/525|140/174||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|zinc_finger_region:NR_C4-type|ENST00000402126|protein_coding|4/7|c.418G>A||||||,A|sequence_feature|LOW|PPARA|ENSG00000186951|zinc_finger_region:NR_C4-type|ENST00000434345|protein_coding|3/5|c.418G>A||||||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572G>A|||||2947|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|5/6|n.628G>A||||||
22	46614274	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|5/8|c.484C>G|p.Leu162Val|666/9965|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|5/8|c.484C>G|p.Leu162Val|749/10048|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|5/8|c.484C>G|p.Leu162Val|697/9995|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|4/7|c.484C>G|p.Leu162Val|612/1558|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/5|c.484C>G|p.Leu162Val|484/1204|484/525|162/174||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|5/7|c.484C>G||||||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|4/7|c.484C>G||||||,G|sequence_feature|LOW|PPARA|ENSG00000186951|DNA-binding_region:Nuclear_receptor|ENST00000402126|protein_coding|3/7|c.484C>G||||||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572C>G|||||3013|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|5/6|n.694C>G||||||
22	46615732	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|6/8|c.532A>G|p.Arg178Gly|714/9965|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|6/8|c.532A>G|p.Arg178Gly|797/10048|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|6/8|c.532A>G|p.Arg178Gly|745/9995|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|5/7|c.532A>G|p.Arg178Gly|660/1558|532/1407|178/468||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572A>G|||||4471|WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+1434A>G||||||,G|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|6/6|n.742A>G||||||
22	46615880	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|6/8|c.680T>C|p.Val227Ala|862/9965|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|6/8|c.680T>C|p.Val227Ala|945/10048|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|6/8|c.680T>C|p.Val227Ala|893/9995|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|5/7|c.680T>C|p.Val227Ala|808/1558|680/1407|227/468||,C|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|5/7|c.680T>C||||||,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000420804|protein_coding||c.*572T>C|||||4619|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|3/4|c.508+1582T>C||||||,C|non_coding_exon_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000493286|retained_intron|6/6|n.890T>C||||||
22	46627735	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.758C>T|p.Thr253Met|940/9965|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.758C>T|p.Thr253Met|1023/10048|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.758C>T|p.Thr253Met|971/9995|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.758C>T|p.Thr253Met|886/1558|758/1407|253/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|6/7|c.758C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*30C>T|||||30|
22	46627780	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|7/8|c.803C>T|p.Ala268Val|985/9965|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|7/8|c.803C>T|p.Ala268Val|1068/10048|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|7/8|c.803C>T|p.Ala268Val|1016/9995|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|6/7|c.803C>T|p.Ala268Val|931/1558|803/1407|268/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|6/7|c.803C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|4/5|c.*75C>T|||||75|
22	46631192	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|8/8|c.1322C>T|p.Ala441Val|1504/9965|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|8/8|c.1322C>T|p.Ala441Val|1587/10048|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|8/8|c.1322C>T|p.Ala441Val|1535/9995|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|7/7|c.1322C>T|p.Ala441Val|1450/1558|1322/1407|441/468||,T|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.1322C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.1322C>T||||||,T|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|7/7|c.1322C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|5/5|c.*594C>T|||||3487|
22	46631206	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding|8/8|c.1336A>C|p.Ile446Leu|1518/9965|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding|8/8|c.1336A>C|p.Ile446Leu|1601/10048|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding|8/8|c.1336A>C|p.Ile446Leu|1549/9995|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|ENSG00000186951|transcript|ENST00000402126|protein_coding|7/7|c.1336A>C|p.Ile446Leu|1464/1558|1336/1407|446/468||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|6/7|c.1336A>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|region_of_interest:Ligand-binding|ENST00000402126|protein_coding|7/7|c.1336A>C||||||,C|sequence_feature|LOW|PPARA|ENSG00000186951|helix|ENST00000402126|protein_coding|7/7|c.1336A>C||||||,C|3_prime_UTR_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000434345|protein_coding|5/5|c.*608A>C|||||3501|
22	46643023	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|3/4|c.209T>G|p.Leu70Arg|633/1875|209/372|70/123||,C|missense_variant&splice_region_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|2/3|c.209T>G|p.Leu70Arg|210/1439|209/357|70/118||,C|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|2/4|c.209T>G|p.Leu70Arg|210/1541|209/348|70/115||,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589A>C|||||3370|,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672A>C|||||3370|,C|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620A>C|||||3371|,C|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.40-1888T>G||||||,C|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|3/5|n.209T>G||||||,C|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|2/3|n.152T>G||||||
22	46644159	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.23G>C|p.Arg8Pro|447/1875|23/372|8/123||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.23G>C|p.Arg8Pro|24/1439|23/357|8/118||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.23G>C|p.Arg8Pro|24/1541|23/348|8/115||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589C>G|||||4506|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672C>G|||||4506|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620C>G|||||4507|,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1994G>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1041G>C||||||,G|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.23G>C||||||
22	46644168	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.14T>C|p.Val5Ala|438/1875|14/372|5/123||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.14T>C|p.Val5Ala|15/1439|14/357|5/118||,G|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.14T>C|p.Val5Ala|15/1541|14/348|5/115||,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589A>G|||||4515|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672A>G|||||4515|,G|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620A>G|||||4516|,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1985T>C||||||,G|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1050T>C||||||,G|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.14T>C||||||
22	46644177	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.5C>T|p.Ala2Val|429/1875|5/372|2/123||,A|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.5C>T|p.Ala2Val|6/1439|5/357|2/118||,A|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.5C>T|p.Ala2Val|6/1541|5/348|2/115||,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589G>A|||||4524|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672G>A|||||4524|,A|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620G>A|||||4525|,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1976C>T||||||,A|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1059C>T||||||,A|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.5C>T||||||
22	46644178	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000314567|protein_coding|2/4|c.4G>A|p.Ala2Thr|428/1875|4/372|2/123||,T|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404583|protein_coding|1/3|c.4G>A|p.Ala2Thr|5/1439|4/357|2/118||,T|missense_variant|MODERATE|CDPF1|ENSG00000205643|transcript|ENST00000404744|protein_coding|1/4|c.4G>A|p.Ala2Thr|5/1541|4/348|2/115||,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000262735|protein_coding||c.*1589C>T|||||4525|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000396000|protein_coding||c.*1672C>T|||||4525|,T|downstream_gene_variant|MODIFIER|PPARA|ENSG00000186951|transcript|ENST00000407236|protein_coding||c.*1620C>T|||||4526|,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000475605|processed_transcript|1/1|n.39+1975G>A||||||,T|intron_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000474256|processed_transcript|1/2|n.57-1060G>A||||||,T|non_coding_exon_variant|MODIFIER|CDPF1|ENSG00000205643|transcript|ENST00000381037|nonsense_mediated_decay|2/5|n.4G>A||||||
22	46652516	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6704A>T|p.Tyr2235Phe|6704/7660|6704/6762|2235/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.6704A>T||||||
22	46652736	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6484G>A|p.Val2162Ile|6484/7660|6484/6762|2162/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6484G>A||||||
22	46652892	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6328G>T|p.Val2110Leu|6328/7660|6328/6762|2110/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.6328G>T||||||
22	46652994	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6226C>T|p.Arg2076Cys|6226/7660|6226/6762|2076/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.6226C>T||||||
22	46653095	.	G	A,C	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6125C>T|p.Ala2042Val|6125/7660|6125/6762|2042/2253||,C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.6125C>G|p.Ala2042Gly|6125/7660|6125/6762|2042/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.6125C>T||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.6125C>G||||||
22	46653548	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5672G>A|p.Arg1891Gln|5672/7660|5672/6762|1891/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5672G>A||||||
22	46653685	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5535T>G|p.Asp1845Glu|5535/7660|5535/6762|1845/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.5535T>G||||||
22	46654035	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5185G>A|p.Val1729Ile|5185/7660|5185/6762|1729/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.5185G>A||||||
22	46654188	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.5032G>A|p.Val1678Ile|5032/7660|5032/6762|1678/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.5032G>A||||||
22	46654454	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4766G>A|p.Ser1589Asn|4766/7660|4766/6762|1589/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|transmembrane_region:Transmembrane_region|ENST00000253255|protein_coding|1/1|c.4766G>A||||||
22	46654515	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4705C>T|p.Arg1569Trp|4705/7660|4705/6762|1569/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4705C>T||||||
22	46654554	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4666C>G|p.Pro1556Ala|4666/7660|4666/6762|1556/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4666C>G||||||
22	46654563	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4657G>A|p.Glu1553Lys|4657/7660|4657/6762|1553/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4657G>A||||||
22	46654572	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4648G>A|p.Val1550Ile|4648/7660|4648/6762|1550/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4648G>A||||||
22	46654598	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4622A>G|p.Asn1541Ser|4622/7660|4622/6762|1541/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4622A>G||||||
22	46654628	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4592C>T|p.Pro1531Leu|4592/7660|4592/6762|1531/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4592C>T||||||
22	46654636	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4584C>G|p.Ile1528Met|4584/7660|4584/6762|1528/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4584C>G||||||
22	46654664	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4556C>A|p.Pro1519His|4556/7660|4556/6762|1519/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4556C>A||||||
22	46654812	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4408A>G|p.Met1470Val|4408/7660|4408/6762|1470/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4408A>G||||||
22	46654850	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4370C>T|p.Ala1457Val|4370/7660|4370/6762|1457/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4370C>T||||||
22	46655108	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.4112T>C|p.Met1371Thr|4112/7660|4112/6762|1371/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.4112T>C||||||
22	46655303	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3917C>T|p.Ser1306Leu|3917/7660|3917/6762|1306/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3917C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3917C>T||||||
22	46655313	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3907G>A|p.Glu1303Lys|3907/7660|3907/6762|1303/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3907G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3907G>A||||||
22	46655391	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3829G>A|p.Gly1277Ser|3829/7660|3829/6762|1277/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Cytoplasmic|ENST00000253255|protein_coding|1/1|c.3829G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:PLAT|ENST00000253255|protein_coding|1/1|c.3829G>A||||||
22	46655779	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3441C>G|p.Ile1147Met|3441/7660|3441/6762|1147/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3441C>G||||||
22	46655925	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3295A>G|p.Ile1099Val|3295/7660|3295/6762|1099/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3295A>G||||||
22	46655948	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3272A>G|p.Asn1091Ser|3272/7660|3272/6762|1091/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3272A>G||||||
22	46655966	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3254G>A|p.Arg1085His|3254/7660|3254/6762|1085/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3254G>A||||||
22	46655969	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.3251C>G|p.Pro1084Arg|3251/7660|3251/6762|1084/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.3251C>G||||||
22	46656246	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2974A>C|p.Thr992Pro|2974/7660|2974/6762|992/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2974A>C||||||
22	46656275	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2945C>G|p.Thr982Arg|2945/7660|2945/6762|982/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2945C>G||||||
22	46656278	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2942C>T|p.Thr981Met|2942/7660|2942/6762|981/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2942C>T||||||
22	46656323	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2897T>C|p.Leu966Pro|2897/7660|2897/6762|966/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2897T>C||||||
22	46656371	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2849C>T|p.Ala950Val|2849/7660|2849/6762|950/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2849C>T||||||
22	46656479	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2741T>C|p.Leu914Pro|2741/7660|2741/6762|914/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2741T>C||||||
22	46656812	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2408T>C|p.Ile803Thr|2408/7660|2408/6762|803/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2408T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2408T>C||||||
22	46656831	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2389C>T|p.Arg797Cys|2389/7660|2389/6762|797/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2389C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2389C>T||||||
22	46657047	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.2173C>T|p.Pro725Ser|2173/7660|2173/6762|725/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.2173C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.2173C>T||||||
22	46657308	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1912A>G|p.Met638Val|1912/7660|1912/6762|638/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1912A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1912A>G||||||
22	46657447	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1773C>A|p.His591Gln|1773/7660|1773/6762|591/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1773C>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1773C>A||||||
22	46657485	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1735A>G|p.Lys579Glu|1735/7660|1735/6762|579/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1735A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1735A>G||||||
22	46657637	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1583G>A|p.Arg528Gln|1583/7660|1583/6762|528/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1583G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1583G>A||||||
22	46657713	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1507A>G|p.Met503Val|1507/7660|1507/6762|503/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1507A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1507A>G||||||
22	46657881	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1339A>G|p.Arg447Gly|1339/7660|1339/6762|447/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1339A>G||||||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1339A>G||||||
22	46658204	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.1016T>C|p.Val339Ala|1016/7660|1016/6762|339/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.1016T>C||||||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.1016T>C||||||
22	46658399	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.821C>T|p.Thr274Met|821/7660|821/6762|274/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.821C>T||||||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.821C>T||||||
22	46658515	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.705G>A|p.Met235Ile|705/7660|705/6762|235/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.705G>A||||||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|domain:REJ|ENST00000253255|protein_coding|1/1|c.705G>A||||||
22	46658619	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.601C>A|p.His201Asn|601/7660|601/6762|201/2253||,T|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.601C>A||||||
22	46658747	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.473C>T|p.Pro158Leu|473/7660|473/6762|158/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.473C>T||||||
22	46658978	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.242A>G|p.His81Arg|242/7660|242/6762|81/2253||,C|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.242A>G||||||,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77T>C|||||4883|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80T>C|||||4880|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57T>C|||||4903|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1T>C|||||4927|,C|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33T>C|||||4927|WARNING_TRANSCRIPT_NO_STOP_CODON
22	46659143	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.77T>C|p.Val26Ala|77/7660|77/6762|26/2253||,G|sequence_feature|LOW|PKDREJ|ENSG00000130943|topological_domain:Extracellular|ENST00000253255|protein_coding|1/1|c.77T>C||||||,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77A>G|||||4718|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80A>G|||||4715|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57A>G|||||4738|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1A>G|||||4762|,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33A>G|||||4762|WARNING_TRANSCRIPT_NO_STOP_CODON
22	46659186	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PKDREJ|ENSG00000130943|transcript|ENST00000253255|protein_coding|1/1|c.34G>T|p.Val12Leu|34/7660|34/6762|12/2253||,A|sequence_feature|LOW|PKDREJ|ENSG00000130943|signal_peptide|ENST00000253255|protein_coding|1/1|c.34G>T||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.-77C>A|||||4675|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.-80C>A|||||4672|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.-57C>A|||||4695|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000475467|retained_intron||n.-1C>A|||||4719|,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.-33C>A|||||4719|WARNING_TRANSCRIPT_NO_STOP_CODON
22	46669887	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|4/14|c.286A>G|p.Met96Val|362/2610|286/1410|96/469||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|4/13|c.286A>G|p.Met96Val|342/1388|286/1236|96/411||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|4/7|c.286A>G|p.Met96Val|318/821|286/789|96/262||WARNING_TRANSCRIPT_NO_STOP_CODON,G|3_prime_UTR_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*272A>G|||||4798|,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay|5/6|n.*272A>G||||||,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|2/7|n.136A>G||||||
22	46674516	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/14|c.573G>A|p.Met191Ile|649/2610|573/1410|191/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/13|c.399G>A|p.Met133Ile|455/1388|399/1236|133/411||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|6/7|c.573G>A|p.Met191Ile|605/821|573/789|191/262||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.573G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.573G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.573G>A||||||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241G>A|||||3334|,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/7|n.423G>A||||||
22	46674554	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|6/14|c.611A>G|p.Lys204Arg|687/2610|611/1410|204/469||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|5/13|c.437A>G|p.Lys146Arg|493/1388|437/1236|146/411||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding|6/7|c.611A>G|p.Lys204Arg|643/821|611/789|204/262||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|6/14|c.611A>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|5/14|c.611A>G||||||,G|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_2|ENST00000381031|protein_coding|7/14|c.611A>G||||||,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000417709|nonsense_mediated_decay||n.*241A>G|||||3372|,G|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|4/7|n.461A>G||||||
22	46677553	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.673G>A|p.Glu225Lys|749/2610|673/1410|225/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.499G>A|p.Glu167Lys|555/1388|499/1236|167/411||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821G>A|||||1414|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.523G>A||||||
22	46677605	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.725C>A|p.Thr242Asn|801/2610|725/1410|242/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.551C>A|p.Thr184Asn|607/1388|551/1236|184/411||,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821C>A|||||1466|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.575C>A||||||
22	46677607	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|7/14|c.727T>C|p.Phe243Leu|803/2610|727/1410|243/469||,C|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|6/13|c.553T>C|p.Phe185Leu|609/1388|553/1236|185/411||,C|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000421359|protein_coding||c.*821T>C|||||1468|WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay|5/7|n.577T>C||||||
22	46681141	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/14|c.799G>A|p.Glu267Lys|875/2610|799/1410|267/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/13|c.625G>A|p.Glu209Lys|681/1388|625/1236|209/411||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.799G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.799G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.799G>A||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3G>A|||||3266|,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629G>A|||||1212|
22	46681153	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|9/14|c.811G>A|p.Ala271Thr|887/2610|811/1410|271/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|8/13|c.637G>A|p.Ala213Thr|693/1388|637/1236|213/411||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.811G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.811G>A||||||,A|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.811G>A||||||,A|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3G>A|||||3254|,A|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629G>A|||||1224|
22	46682976	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|10/14|c.841C>T|p.Pro281Ser|917/2610|841/1410|281/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|9/13|c.667C>T|p.Pro223Ser|723/1388|667/1236|223/411||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|10/14|c.841C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|9/14|c.841C>T||||||,T|sequence_feature|LOW|TTC38|ENSG00000075234|repeat:TPR_3|ENST00000381031|protein_coding|8/14|c.841C>T||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||1431|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||3047|
22	46682995	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|10/14|c.860A>G|p.Asp287Gly|936/2610|860/1410|287/469||,G|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|9/13|c.686A>G|p.Asp229Gly|742/1388|686/1236|229/411||,G|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3A>G|||||1412|,G|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629A>G|||||3066|
22	46684364	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|11/14|c.961C>T|p.Arg321Trp|1037/2610|961/1410|321/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|10/13|c.787C>T|p.Arg263Trp|843/1388|787/1236|263/411||,T|TF_binding_site_variant|LOW|||Gabp|MA0062.2|||||||||,T|upstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.-3C>T|||||43|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000422713|nonsense_mediated_decay||n.*629C>T|||||4435|
22	46685316	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1100G>A|p.Cys367Tyr|1176/2610|1100/1410|367/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.926G>A|p.Cys309Tyr|982/1388|926/1236|309/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.95G>A||||||
22	46685375	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1159G>A|p.Glu387Lys|1235/2610|1159/1410|387/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.985G>A|p.Glu329Lys|1041/1388|985/1236|329/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.154G>A||||||
22	46685426	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1210C>T|p.Arg404Trp|1286/2610|1210/1410|404/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.1036C>T|p.Arg346Trp|1092/1388|1036/1236|346/411||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.205C>T||||||
22	46685432	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|12/14|c.1216G>A|p.Val406Ile|1292/2610|1216/1410|406/469||,A|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|11/13|c.1042G>A|p.Val348Ile|1098/1388|1042/1236|348/411||,A|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|2/5|n.211G>A||||||
22	46685754	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding|13/14|c.1274C>T|p.Ala425Val|1350/2610|1274/1410|425/469||,T|missense_variant|MODERATE|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding|12/13|c.1100C>T|p.Ala367Val|1156/1388|1100/1236|367/411||,T|non_coding_exon_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay|3/5|n.269C>T||||||
22	46693319	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|2/12|c.22G>T|p.Asp8Tyr|234/3112|22/2220|8/739||,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000381031|protein_coding||c.*1486G>T|||||3414|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000445282|protein_coding||c.*1292G>T|||||4442|,T|downstream_gene_variant|MODIFIER|TTC38|ENSG00000075234|transcript|ENST00000451998|nonsense_mediated_decay||n.*359G>T|||||4489|
22	46704244	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.166G>A|p.Gly56Arg|378/3112|166/2220|56/739||
22	46704610	.	G	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.532G>T|p.Val178Leu|744/3112|532/2220|178/739||
22	46704622	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.544C>T|p.Arg182Trp|756/3112|544/2220|182/739||
22	46704676	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.598A>G|p.Thr200Ala|810/3112|598/2220|200/739||
22	46704734	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|4/12|c.656C>T|p.Ala219Val|868/3112|656/2220|219/739||
22	46708152	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|5/12|c.877G>A|p.Ala293Thr|1089/3112|877/2220|293/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||3782|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||3782|
22	46708155	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|5/12|c.880G>A|p.Gly294Arg|1092/3112|880/2220|294/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||3779|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||3779|
22	46708180	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|5/12|c.905G>A|p.Arg302Gln|1117/3112|905/2220|302/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||3754|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||3754|
22	46709827	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|6/12|c.968C>T|p.Thr323Ile|1180/3112|968/2220|323/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1C>T|||||2107|,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1C>T|||||2107|
22	46709881	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|6/12|c.1022G>A|p.Ser341Asn|1234/3112|1022/2220|341/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.-1G>A|||||2053|,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.-1G>A|||||2053|
22	46712021	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1144C>T|p.Arg382Trp|1356/3112|1144/2220|382/739||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.88C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.88C>T||||||
22	46712216	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1339A>G|p.Arg447Gly|1551/3112|1339/2220|447/739||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.283A>G||||||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.283A>G||||||
22	46712229	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|7/12|c.1352G>A|p.Arg451Gln|1564/3112|1352/2220|451/739||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|1/3|n.296G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|1/4|n.296G>A||||||
22	46719100	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/12|c.1446C>G|p.Asp482Glu|1658/3112|1446/2220|482/739||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/3|n.390C>G||||||,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/4|n.390C>G||||||
22	46719120	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/12|c.1466C>T|p.Ser489Leu|1678/3112|1466/2220|489/739||,T|TF_binding_site_variant|LOW|||E2F1|MA0024.1|||||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/3|n.410C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/4|n.410C>T||||||
22	46719141	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|8/12|c.1487C>T|p.Ser496Leu|1699/3112|1487/2220|496/739||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|2/3|n.431C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|2/4|n.431C>T||||||
22	46722362	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1535G>A|p.Arg512His|1747/3112|1535/2220|512/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||2458|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||4410|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||4982|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.479G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.479G>A||||||
22	46722397	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1570G>A|p.Ala524Thr|1782/3112|1570/2220|524/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||2423|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||4375|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||4947|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.514G>A||||||,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.514G>A||||||
22	46722400	.	T	C	.	.	ANN=C|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1573T>C|p.Trp525Arg|1785/3112|1573/2220|525/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1T>C|||||2420|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1T>C|||||4372|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1T>C|||||4944|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.517T>C||||||,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.517T>C||||||
22	46722419	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1592C>T|p.Pro531Leu|1804/3112|1592/2220|531/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2401|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4353|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4925|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.536C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.536C>T||||||
22	46722436	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1609C>T|p.Arg537Cys|1821/3112|1609/2220|537/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2384|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4336|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4908|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.553C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.553C>T||||||
22	46722517	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|9/12|c.1690C>T|p.Arg564Cys|1902/3112|1690/2220|564/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>T|||||2303|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>T|||||4255|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>T|||||4827|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron|3/3|n.634C>T||||||,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|3/4|n.634C>T||||||
22	46724650	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1790G>C|p.Arg597Thr|2002/3112|1790/2220|597/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>C|||||170|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>C|||||2122|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>C|||||2694|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>C|||||1437|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.734G>C||||||
22	46724703	.	A	T	.	.	ANN=T|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1843A>T|p.Ser615Cys|2055/3112|1843/2220|615/739||,T|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1A>T|||||117|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1A>T|||||2069|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1A>T|||||2641|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330A>T|||||1490|,T|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.787A>T||||||
22	46724731	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1871C>G|p.Ala624Gly|2083/3112|1871/2220|624/739||,G|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1C>G|||||89|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||2041|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||2613|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||1518|,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.815C>G||||||
22	46724746	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1886G>A|p.Arg629Gln|2098/3112|1886/2220|629/739||,A|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>A|||||74|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||2026|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||2598|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>A|||||1533|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.830G>A||||||
22	46724769	.	G	C	.	.	ANN=C|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|10/12|c.1909G>C|p.Asp637His|2121/3112|1909/2220|637/739||,C|upstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron||n.-1G>C|||||51|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>C|||||2003|,C|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>C|||||2575|,C|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>C|||||1556|,C|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron|4/4|n.853G>C||||||
22	46725288	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/12|c.1960G>A|p.Ala654Thr|2172/3112|1960/2220|654/739||,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1G>A|||||1484|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1G>A|||||2056|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330G>A|||||2075|,A|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111G>A|||||261|,A|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/2|n.469G>A||||||
22	46725316	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|11/12|c.1988C>G|p.Pro663Arg|2200/3112|1988/2220|663/739||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||1456|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||2028|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||2103|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111C>G|||||289|,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|1/2|n.497C>G||||||
22	46725974	.	C	G	.	.	ANN=G|missense_variant|MODERATE|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding|12/12|c.2167C>G|p.Leu723Val|2379/3112|2167/2220|723/739||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.-1C>G|||||798|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.-1C>G|||||1370|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000466510|retained_intron||n.*1330C>G|||||2761|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000479645|retained_intron||n.*1111C>G|||||947|,G|non_coding_exon_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000491863|retained_intron|2/2|n.676C>G||||||
22	46731671	.	T	G	.	.	ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.10T>G|p.Leu4Val|350/1940|10/1266|4/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.10T>G|p.Leu4Val|30/1381|10/1131|4/376||,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1T>G|||||119|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1T>G|||||121|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209T>G|||||148|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1T>G|||||184|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1T>G|||||616|,G|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.*2432T>G|||||4964|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476T>G|||||2075|,G|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-2005T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.10T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.10T>G||||||
22	46731689	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.28G>T|p.Ala10Ser|368/1940|28/1266|10/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.28G>T|p.Ala10Ser|48/1381|28/1131|10/376||,T|sequence_feature|LOW|TRMU|ENSG00000100416|nucleotide_phosphate-binding_region:ATP|ENST00000290846|protein_coding|1/11|c.28G>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|nucleotide_phosphate-binding_region:ATP|ENST00000381019|protein_coding|1/10|c.28G>T||||||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1G>T|||||101|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>T|||||103|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>T|||||130|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>T|||||166|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>T|||||598|,T|downstream_gene_variant|MODIFIER|GTSE1|ENSG00000075218|transcript|ENST00000454366|protein_coding||c.*2432G>T|||||4982|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>T|||||2093|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1987G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.28G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.28G>T||||||
22	46731736	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|1/11|c.75G>T|p.Arg25Ser|415/1940|75/1266|25/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|1/10|c.75G>T|p.Arg25Ser|95/1381|75/1131|25/376||,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.-1G>T|||||54|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.-1G>T|||||56|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.-209G>T|||||83|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.-1G>T|||||119|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.-1G>T|||||551|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>T|||||2140|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|1/5|n.287-1940G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|1/10|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|1/10|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|1/10|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|1/9|n.75G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|1/11|n.75G>T||||||
22	46733831	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|2/11|c.238G>A|p.Asp80Asn|578/1940|238/1266|80/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|2/10|c.238G>A|p.Asp80Asn|258/1381|238/1131|80/376||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|2/7|c.133G>A|p.Asp45Asn|341/1401|133/396|45/131||,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000476901|processed_transcript||n.*1476G>A|||||4235|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000493556|processed_transcript||n.*432G>A|||||1|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|2/6|n.442G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|2/10|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|2/10|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|2/10|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|2/9|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|2/11|n.238G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|2/4|n.370G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|2/4|n.368G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|2/6|n.305G>A||||||
22	46742405	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|4/11|c.442G>A|p.Glu148Lys|782/1940|442/1266|148/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|4/10|c.442G>A|p.Glu148Lys|462/1381|442/1131|148/376||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|4/7|c.337G>A|p.Glu113Lys|545/1401|337/396|113/131||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.442G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.442G>A||||||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/10|n.*35G>A|||||35|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/10|n.*35G>A|||||35|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/10|n.*35G>A|||||35|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/9|n.*35G>A|||||35|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.-1G>A|||||3837|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|3/6|n.539G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|3/10|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|3/10|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|3/10|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|3/9|n.*35G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|4/11|n.442G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript|4/4|n.574G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|3/4|n.465G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|3/6|n.402G>A||||||
22	46746261	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/7|c.392C>T|p.Pro131Leu|600/1401|392/396|131/131||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.552C>T|p.Ala184Ala|892/1940|552/1266|184/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.552C>T|p.Ala184Ala|572/1381|552/1131|184/376||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.552C>T||||||,T|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.552C>T||||||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*86C>T|||||3891|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*145C>T|||||3891|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*90C>T|||||3891|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*86C>T|||||3891|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1C>T|||||1286|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>T|||||2465|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>T|||||3153|,T|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>T|||||4346|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610C>T|||||3820|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/6|n.594C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*86C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*145C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*90C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*86C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.497C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|4/4|n.520C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.512C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/4|n.20C>T||||||
22	46746276	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.567C>G|p.Ile189Met|907/1940|567/1266|189/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.567C>G|p.Ile189Met|587/1381|567/1131|189/376||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.567C>G||||||,G|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.567C>G||||||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*101C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*160C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*105C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*101C>G|||||3906|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*11C>G|||||11|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/7|c.*11C>G|||||11|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1C>G|||||1271|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1C>G|||||2450|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1C>G|||||3138|,G|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1C>G|||||4331|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610C>G|||||3835|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/6|n.609C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*101C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*160C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*105C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*101C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*11C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript|4/4|n.535C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.527C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/4|n.35C>G||||||
22	46746319	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|5/11|c.610G>A|p.Ala204Thr|950/1940|610/1266|204/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|5/10|c.610G>A|p.Ala204Thr|630/1381|610/1131|204/376||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|3/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|6/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|5/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000290846|protein_coding|4/11|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|3/10|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|6/10|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|5/10|c.610G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|disulfide_bond|ENST00000381019|protein_coding|4/10|c.610G>A||||||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*144G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*203G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*148G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*144G>A|||||3949|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*54G>A|||||54|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding|5/7|c.*54G>A|||||54|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.-1G>A|||||1228|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron||n.-1G>A|||||2407|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron||n.-1G>A|||||3095|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1G>A|||||4288|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000465378|processed_transcript||n.*610G>A|||||3878|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576G>A|||||2|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript|4/6|n.652G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|4/10|n.*144G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|4/10|n.*203G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|4/10|n.*148G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|4/9|n.*144G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|5/11|n.*54G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript|4/6|n.570G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript|1/4|n.78G>A||||||
22	46749744	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|8/11|c.853G>A|p.Val285Ile|1193/1940|853/1266|285/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|8/10|c.853G>A|p.Val285Ile|873/1381|853/1131|285/376||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|7/10|n.*387G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|7/10|n.*446G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|7/10|n.*391G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|7/9|n.*387G>A|||||7374|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|8/11|n.*297G>A|||||3479|,A|upstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron||n.-1G>A|||||863|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||1517|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000496831|processed_transcript||n.*576G>A|||||3427|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||936|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||1518|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||1006|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||1535|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|7/10|n.*387G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|7/10|n.*446G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|7/10|n.*391G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|7/9|n.*387G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|8/11|n.*297G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|1/2|n.1019G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.331G>A||||||
22	46751369	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.902A>G|p.Tyr301Cys|1242/1940|902/1266|301/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.902A>G|p.Tyr301Cys|922/1381|902/1131|301/376||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*436A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*495A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*440A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*436A>G|||||8999|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*346A>G|||||5104|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814A>G|||||3142|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604A>G|||||2561|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731A>G|||||3143|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557A>G|||||2631|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574A>G|||||3160|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*436A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*495A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*440A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*436A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*346A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1068A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.1956A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.763A>G||||||
22	46751377	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.910C>G|p.Leu304Val|1250/1940|910/1266|304/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.910C>G|p.Leu304Val|930/1381|910/1131|304/376||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*444C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*503C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*448C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*444C>G|||||9007|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*354C>G|||||5112|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>G|||||3150|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>G|||||2569|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>G|||||3151|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>G|||||2639|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>G|||||3168|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*444C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*503C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*448C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*444C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*354C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1076C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.1964C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.771C>G||||||
22	46751426	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.959C>T|p.Ala320Val|1299/1940|959/1266|320/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.959C>T|p.Ala320Val|979/1381|959/1131|320/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*493C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*552C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*497C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*493C>T|||||9056|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*403C>T|||||5161|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3199|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||2618|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3200|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||2688|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3217|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*493C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*552C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*497C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*493C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*403C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1125C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2013C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.820C>T||||||
22	46751443	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.976A>G|p.Met326Val|1316/1940|976/1266|326/421||,G|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.976A>G|p.Met326Val|996/1381|976/1131|326/376||,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*510A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*569A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*514A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*510A>G|||||9073|,G|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*420A>G|||||5178|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814A>G|||||3216|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604A>G|||||2635|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731A>G|||||3217|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557A>G|||||2705|,G|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574A>G|||||3234|,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*510A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*569A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*514A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*510A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*420A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1142A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2030A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.837A>G||||||
22	46751468	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|9/11|c.1001G>A|p.Arg334His|1341/1940|1001/1266|334/421||,A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/10|c.1001G>A|p.Arg334His|1021/1381|1001/1131|334/376||,A|sequence_feature|LOW|TRMU|ENSG00000100416|interacting_region:Interaction_with_tRNA|ENST00000290846|protein_coding|9/11|c.1001G>A||||||,A|sequence_feature|LOW|TRMU|ENSG00000100416|interacting_region:Interaction_with_tRNA|ENST00000381019|protein_coding|9/10|c.1001G>A||||||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*535G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*594G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*539G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*535G>A|||||9098|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*445G>A|||||5203|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||3241|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||2660|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||3242|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||2730|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||3259|,A|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|8/10|n.*535G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|8/10|n.*594G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|8/10|n.*539G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/9|n.*535G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|9/11|n.*445G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1167G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|1/3|n.2055G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.862G>A||||||
22	46751949	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|10/11|c.1081C>T|p.Arg361Cys|1421/1940|1081/1266|361/421||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/10|n.*615C>T|||||9579|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/10|n.*674C>T|||||9579|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/10|n.*619C>T|||||9579|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/11|n.*525C>T|||||5684|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||4782|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||3722|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3141|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||3723|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||3211|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||3740|,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|8/8|n.*552+464C>T||||||,T|intron_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|9/9|c.1018+464C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|9/10|n.*615C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|9/10|n.*674C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|9/10|n.*619C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|10/11|n.*525C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.1648C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|2/3|n.2135C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|1/2|n.1343C>T||||||
22	46752795	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1075G>A|p.Gly359Arg|1095/1381|1075/1131|359/376||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1158G>A|p.Leu386Leu|1498/1940|1158/1266|386/421||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*692G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*751G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*696G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*609G>A|||||10425|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*602G>A|||||6530|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>T|||||3936|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||4568|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||3987|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||4569|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||4057|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||4586|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>T|||||4276|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*692G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*751G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*696G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*609G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*602G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2494G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2212G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1420G>A||||||
22	46752800	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1163C>T|p.Pro388Leu|1503/1940|1163/1266|388/421||,T|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1080C>T|p.Ala360Ala|1100/1381|1080/1131|360/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*697C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*756C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*701C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*614C>T|||||10430|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*607C>T|||||6535|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||3931|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||4573|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||3992|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||4574|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||4062|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||4591|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453G>A|||||4271|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*697C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*756C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*701C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*614C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*607C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2499C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2217C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1425C>T||||||
22	46752801	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1081G>A|p.Val361Ile|1101/1381|1081/1131|361/376||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1164G>A|p.Pro388Pro|1504/1940|1164/1266|388/421||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*698G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*757G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*702G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*615G>A|||||10431|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*608G>A|||||6536|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>T|||||3930|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||4574|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||3993|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||4575|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||4063|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||4592|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>T|||||4270|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*698G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*757G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*702G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*615G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*608G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2500G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2218G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1426G>A||||||
22	46752813	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1093G>A|p.Ala365Thr|1113/1381|1093/1131|365/376||,A|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1176G>A|p.Thr392Thr|1516/1940|1176/1266|392/421||,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*710G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*769G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*714G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*627G>A|||||10443|,A|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*620G>A|||||6548|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>T|||||3918|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>A|||||4586|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>A|||||4005|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>A|||||4587|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>A|||||4075|,A|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>A|||||4604|,A|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>T|||||4258|,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*710G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*769G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*714G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*627G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*620G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2512G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2230G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1438G>A||||||
22	46752829	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1192C>T|p.Arg398Cys|1532/1940|1192/1266|398/421||,T|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1109C>T|p.Ala370Val|1129/1381|1109/1131|370/376||,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*726C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*785C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*730C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*643C>T|||||10459|,T|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*636C>T|||||6564|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045G>A|||||3902|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814C>T|||||4602|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604C>T|||||4021|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731C>T|||||4603|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557C>T|||||4091|,T|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574C>T|||||4620|,T|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453G>A|||||4242|,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*726C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*785C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*730C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*643C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*636C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2528C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2246C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1454C>T||||||
22	46752840	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TRMU|ENSG00000100416|transcript|ENST00000381019|protein_coding|10/10|c.1120G>C|p.Asp374His|1140/1381|1120/1131|374/376||,C|synonymous_variant|LOW|TRMU|ENSG00000100416|transcript|ENST00000290846|protein_coding|11/11|c.1203G>C|p.Gly401Gly|1543/1940|1203/1266|401/421||,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*737G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*796G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*741G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*654G>C|||||10470|,C|3_prime_UTR_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*647G>C|||||6575|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding||c.*9045C>G|||||3891|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000486620|processed_transcript||n.*814G>C|||||4613|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000424260|protein_coding||c.*604G>C|||||4032|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485175|processed_transcript||n.*731G>C|||||4614|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000463785|processed_transcript||n.*557G>C|||||4102|,C|downstream_gene_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000479648|retained_intron||n.*574G>C|||||4631|,C|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.*3453C>G|||||4231|,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000441818|nonsense_mediated_decay|10/10|n.*737G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000381021|nonsense_mediated_decay|10/10|n.*796G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000453630|nonsense_mediated_decay|10/10|n.*741G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000456595|nonsense_mediated_decay|9/9|n.*654G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000457572|nonsense_mediated_decay|11/11|n.*647G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000491612|retained_intron|2/2|n.2539G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000485559|retained_intron|3/3|n.2257G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|ENSG00000100416|transcript|ENST00000470831|retained_intron|2/2|n.1465G>C||||||
22	46759927	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.9001A>G|p.Thr3001Ala|9001/11389|9001/9045|3001/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.9001A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.9001A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.597A>G||||||
22	46759981	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8947C>G|p.Pro2983Ala|8947/11389|8947/9045|2983/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8947C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8947C>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.543C>G||||||
22	46760011	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8917G>A|p.Gly2973Ser|8917/11389|8917/9045|2973/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8917G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8917G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.513G>A||||||
22	46760037	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8891C>T|p.Ser2964Leu|8891/11389|8891/9045|2964/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8891C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8891C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.487C>T||||||
22	46760065	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8863G>A|p.Ala2955Thr|8863/11389|8863/9045|2955/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8863G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8863G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.459G>A||||||
22	46760086	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8842G>A|p.Gly2948Ser|8842/11389|8842/9045|2948/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8842G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8842G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.438G>A||||||
22	46760121	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|34/35|c.8807C>T|p.Pro2936Leu|8807/11389|8807/9045|2936/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8807C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8807C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|3/3|n.403C>T||||||
22	46760416	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8772G>C|p.Gln2924His|8772/11389|8772/9045|2924/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8772G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8772G>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.368G>C||||||
22	46760481	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8707G>C|p.Glu2903Gln|8707/11389|8707/9045|2903/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8707G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8707G>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.303G>C||||||
22	46760507	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|33/35|c.8681G>A|p.Arg2894His|8681/11389|8681/9045|2894/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8681G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8681G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|2/3|n.277G>A||||||
22	46761221	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|32/35|c.8461G>A|p.Ala2821Thr|8461/11389|8461/9045|2821/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8461G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8461G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron|1/3|n.57G>A||||||
22	46761497	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8390G>C|p.Cys2797Ser|8390/11389|8390/9045|2797/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8390G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8390G>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>C|||||220|
22	46761561	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|31/35|c.8326G>A|p.Val2776Met|8326/11389|8326/9045|2776/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8326G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8326G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||284|
22	46762970	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8125C>G|p.Arg2709Gly|8125/11389|8125/9045|2709/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|32/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|34/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|35/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|30/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|29/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|31/35|c.8125C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|33/35|c.8125C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1C>G|||||1693|
22	46762988	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|29/35|c.8107G>A|p.Val2703Met|8107/11389|8107/9045|2703/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|28/35|c.8107G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|29/35|c.8107G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1G>A|||||1711|
22	46765593	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|26/35|c.7868T>C|p.Ile2623Thr|7868/11389|7868/9045|2623/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7868T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|27/35|c.7868T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000473624|retained_intron||n.-1T>C|||||4316|,G|downstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.*623T>C|||||3217|
22	46768810	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|25/35|c.7729G>A|p.Val2577Met|7729/11389|7729/9045|2577/3014||,T|splice_region_variant&non_coding_exon_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|3/3|n.623G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|26/35|c.7729G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|25/35|c.7729G>A||||||
22	46772988	.	G	A,T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7554C>A|p.Phe2518Leu|7554/11389|7554/9045|2518/3014||,A|synonymous_variant|LOW|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7554C>T|p.Phe2518Phe|7554/11389|7554/9045|2518/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7554C>T||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7554C>A||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.448C>T||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.448C>A||||||
22	46773053	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7489C>T|p.Arg2497Cys|7489/11389|7489/9045|2497/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|24/35|c.7489C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.383C>T||||||
22	46773059	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7483A>G|p.Met2495Val|7483/11389|7483/9045|2495/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Cytoplasmic|ENST00000262738|protein_coding|24/35|c.7483A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.377A>G||||||
22	46773124	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7418A>G|p.Tyr2473Cys|7418/11389|7418/9045|2473/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7418A>G||||||,C|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.312A>G||||||
22	46773128	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|24/35|c.7414A>T|p.Thr2472Ser|7414/11389|7414/9045|2472/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|transmembrane_region:Transmembrane_region|ENST00000262738|protein_coding|24/35|c.7414A>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript|2/3|n.308A>T||||||
22	46776707	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7234G>A|p.Val2412Met|7234/11389|7234/9045|2412/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|23/35|c.7234G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:GPS|ENST00000262738|protein_coding|22/35|c.7234G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||3186|
22	46776787	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7154C>T|p.Pro2385Leu|7154/11389|7154/9045|2385/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7154C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7154C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1C>T|||||3266|
22	46776841	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|22/35|c.7100G>A|p.Arg2367Gln|7100/11389|7100/9045|2367/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.7100G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.7100G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>A|||||3320|
22	46777896	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|21/35|c.6935G>C|p.Arg2312Pro|6935/11389|6935/9045|2312/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6935G>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6935G>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000468025|processed_transcript||n.-1G>C|||||4375|
22	46780446	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6877G>A|p.Glu2293Lys|6877/11389|6877/9045|2293/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6877G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6877G>A||||||
22	46780465	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6858C>G|p.Asp2286Glu|6858/11389|6858/9045|2286/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6858C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6858C>G||||||
22	46780521	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6802A>G|p.Thr2268Ala|6802/11389|6802/9045|2268/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6802A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6802A>G||||||
22	46780552	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|20/35|c.6771C>G|p.Asn2257Lys|6771/11389|6771/9045|2257/3014||,C|sequence_feature|MODERATE|CELSR1|ENSG00000075275|glycosylation_site:N-linked__GlcNAc..._|ENST00000262738|protein_coding|20/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6771C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6771C>G||||||
22	46782340	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6698G>A|p.Arg2233Gln|6698/11389|6698/9045|2233/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6698G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6698G>A||||||
22	46782382	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6656G>A|p.Arg2219His|6656/11389|6656/9045|2219/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6656G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6656G>A||||||
22	46782461	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|19/35|c.6577G>A|p.Ala2193Thr|6577/11389|6577/9045|2193/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6577G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6577G>A||||||
22	46785201	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6541G>A|p.Ala2181Thr|6541/11389|6541/9045|2181/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6541G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6541G>A||||||
22	46785302	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6440C>A|p.Thr2147Lys|6440/11389|6440/9045|2147/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6440C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6440C>A||||||
22	46785308	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|18/35|c.6434C>T|p.Thr2145Met|6434/11389|6434/9045|2145/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6434C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6434C>T||||||
22	46786315	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|17/35|c.6319A>G|p.Ile2107Val|6319/11389|6319/9045|2107/3014||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6319A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6319A>G||||||
22	46787086	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|16/35|c.6247G>A|p.Val2083Ile|6247/11389|6247/9045|2083/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6247G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6247G>A||||||
22	46787544	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.6134C>T|p.Thr2045Met|6134/11389|6134/9045|2045/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|15/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_EGF-like|ENST00000262738|protein_coding|16/35|c.6134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.6134C>T||||||
22	46787694	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.5984T>C|p.Leu1995Pro|5984/11389|5984/9045|1995/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5984T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5984T>C||||||
22	46787697	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|15/35|c.5981T>C|p.Leu1994Pro|5981/11389|5981/9045|1994/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|15/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_8|ENST00000262738|protein_coding|14/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|15/35|c.5981T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5981T>C||||||
22	46790142	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|14/35|c.5861C>T|p.Pro1954Leu|5861/11389|5861/9045|1954/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|14/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_7|ENST00000262738|protein_coding|13/35|c.5861C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|14/35|c.5861C>T||||||
22	46793592	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|12/35|c.5680T>C|p.Tyr1894His|5680/11389|5680/9045|1894/3014||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|12/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_5|ENST00000262738|protein_coding|13/35|c.5680T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|12/35|c.5680T>C||||||
22	46794515	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/35|c.5432G>T|p.Gly1811Val|5432/11389|5432/9045|1811/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5432G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5432G>T||||||
22	46794525	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|11/35|c.5422G>T|p.Asp1808Tyr|5422/11389|5422/9045|1808/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5422G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5422G>T||||||
22	46795760	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|10/35|c.5266C>T|p.Pro1756Ser|5266/11389|5266/9045|1756/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|10/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|9/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|12/35|c.5266C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_2|ENST00000262738|protein_coding|11/35|c.5266C>T||||||
22	46805772	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|8/35|c.4939G>A|p.Ala1647Thr|4939/11389|4939/9045|1647/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4939G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4939G>A||||||
22	46806301	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/35|c.4927C>T|p.Arg1643Trp|4927/11389|4927/9045|1643/3014||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4927C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4927C>T||||||
22	46806346	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|7/35|c.4882G>A|p.Gly1628Ser|4882/11389|4882/9045|1628/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|8/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|7/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|4/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|8/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|3/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|7/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|5/35|c.4882G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Laminin_G-like_1|ENST00000262738|protein_coding|6/35|c.4882G>A||||||
22	46835192	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|3/35|c.4300G>A|p.Glu1434Lys|4300/11389|4300/9045|1434/3014||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_3|ENST00000262738|protein_coding|3/35|c.4300G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4300G>A||||||
22	46859616	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4171G>A|p.Glu1391Lys|4171/11389|4171/9045|1391/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4171G>A|p.Glu1391Lys|4171/4194|4171/4194|1391/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2293G>A|p.Glu765Lys|2295/2446|2293/2316|765/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|3/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_2|ENST00000262738|protein_coding|2/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|3/35|c.4171G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4171G>A||||||
22	46859751	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.4036G>A|p.Gly1346Ser|4036/11389|4036/9045|1346/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.4036G>A|p.Gly1346Ser|4036/4194|4036/4194|1346/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2158G>A|p.Gly720Ser|2160/2446|2158/2316|720/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.4036G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.4036G>A||||||
22	46859826	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3961G>A|p.Val1321Ile|3961/11389|3961/9045|1321/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3961G>A|p.Val1321Ile|3961/4194|3961/4194|1321/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2083G>A|p.Val695Ile|2085/2446|2083/2316|695/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.3961G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.3961G>A||||||
22	46859832	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3955G>A|p.Val1319Met|3955/11389|3955/9045|1319/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3955G>A|p.Val1319Met|3955/4194|3955/4194|1319/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2077G>A|p.Val693Met|2079/2446|2077/2316|693/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:EGF-like_1|ENST00000262738|protein_coding|2/35|c.3955G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|disulfide_bond|ENST00000262738|protein_coding|2/35|c.3955G>A||||||
22	46859900	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3887C>T|p.Thr1296Met|3887/11389|3887/9045|1296/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3887C>T|p.Thr1296Met|3887/4194|3887/4194|1296/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.2009C>T|p.Thr670Met|2011/2446|2009/2316|670/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3887C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3887C>T||||||
22	46859957	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3830C>T|p.Ser1277Leu|3830/11389|3830/9045|1277/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3830C>T|p.Ser1277Leu|3830/4194|3830/4194|1277/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1952C>T|p.Ser651Leu|1954/2446|1952/2316|651/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3830C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3830C>T||||||
22	46860057	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3730G>A|p.Val1244Ile|3730/11389|3730/9045|1244/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3730G>A|p.Val1244Ile|3730/4194|3730/4194|1244/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1852G>A|p.Val618Ile|1854/2446|1852/2316|618/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3730G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3730G>A||||||
22	46860063	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3724G>A|p.Val1242Ile|3724/11389|3724/9045|1242/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3724G>A|p.Val1242Ile|3724/4194|3724/4194|1242/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1846G>A|p.Val616Ile|1848/2446|1846/2316|616/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3724G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3724G>A||||||
22	46860184	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|2/35|c.3603C>A|p.Asp1201Glu|3603/11389|3603/9045|1201/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|2/3|c.3603C>A|p.Asp1201Glu|3603/4194|3603/4194|1201/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|2/3|c.1725C>A|p.Asp575Glu|1727/2446|1725/2316|575/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3603C>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3603C>A||||||
22	46929683	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3385G>A|p.Ala1129Thr|3385/11389|3385/9045|1129/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3385G>A|p.Ala1129Thr|3385/4194|3385/4194|1129/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1507G>A|p.Ala503Thr|1509/2446|1507/2316|503/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3385G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3385G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.415G>A||||||
22	46929692	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3376T>C|p.Cys1126Arg|3376/11389|3376/9045|1126/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3376T>C|p.Cys1126Arg|3376/4194|3376/4194|1126/1397||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1498T>C|p.Cys500Arg|1500/2446|1498/2316|500/771||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3376T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3376T>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.406T>C||||||
22	46929704	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3364G>A|p.Gly1122Ser|3364/11389|3364/9045|1122/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3364G>A|p.Gly1122Ser|3364/4194|3364/4194|1122/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1486G>A|p.Gly496Ser|1488/2446|1486/2316|496/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|1/35|c.3364G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_9|ENST00000262738|protein_coding|2/35|c.3364G>A||||||,T|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.394G>A||||||
22	46929877	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3191T>C|p.Phe1064Ser|3191/11389|3191/9045|1064/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3191T>C|p.Phe1064Ser|3191/4194|3191/4194|1064/1397||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1313T>C|p.Phe438Ser|1315/2446|1313/2316|438/771||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3191T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3191T>C||||||,G|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.221T>C||||||
22	46929899	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3169C>T|p.Arg1057Cys|3169/11389|3169/9045|1057/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3169C>T|p.Arg1057Cys|3169/4194|3169/4194|1057/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1291C>T|p.Arg431Cys|1293/2446|1291/2316|431/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3169C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3169C>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.199C>T||||||
22	46930013	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.3055G>T|p.Ala1019Ser|3055/11389|3055/9045|1019/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.3055G>T|p.Ala1019Ser|3055/4194|3055/4194|1019/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1177G>T|p.Ala393Ser|1179/2446|1177/2316|393/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.3055G>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_8|ENST00000262738|protein_coding|1/35|c.3055G>T||||||,A|non_coding_exon_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript|1/2|n.85G>T||||||
22	46930138	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2930C>T|p.Thr977Ile|2930/11389|2930/9045|977/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2930C>T|p.Thr977Ile|2930/4194|2930/4194|977/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.1052C>T|p.Thr351Ile|1054/2446|1052/2316|351/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2930C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2930C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||41|
22	46930205	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2863C>T|p.Arg955Trp|2863/11389|2863/9045|955/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2863C>T|p.Arg955Trp|2863/4194|2863/4194|955/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.985C>T|p.Arg329Trp|987/2446|985/2316|329/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2863C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2863C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||108|
22	46930297	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2771A>G|p.Asn924Ser|2771/11389|2771/9045|924/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2771A>G|p.Asn924Ser|2771/4194|2771/4194|924/1397||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.893A>G|p.Asn298Ser|895/2446|893/2316|298/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2771A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2771A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||200|
22	46930313	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2755C>T|p.Arg919Trp|2755/11389|2755/9045|919/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2755C>T|p.Arg919Trp|2755/4194|2755/4194|919/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.877C>T|p.Arg293Trp|879/2446|877/2316|293/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2755C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_7|ENST00000262738|protein_coding|1/35|c.2755C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||216|
22	46930444	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2624C>T|p.Thr875Ile|2624/11389|2624/9045|875/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2624C>T|p.Thr875Ile|2624/4194|2624/4194|875/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.746C>T|p.Thr249Ile|748/2446|746/2316|249/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2624C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_6|ENST00000262738|protein_coding|1/35|c.2624C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||347|
22	46930589	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2479G>A|p.Val827Met|2479/11389|2479/9045|827/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2479G>A|p.Val827Met|2479/4194|2479/4194|827/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.601G>A|p.Val201Met|603/2446|601/2316|201/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2479G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_6|ENST00000262738|protein_coding|1/35|c.2479G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||492|
22	46930733	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2335G>A|p.Val779Ile|2335/11389|2335/9045|779/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2335G>A|p.Val779Ile|2335/4194|2335/4194|779/1397||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.457G>A|p.Val153Ile|459/2446|457/2316|153/771||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2335G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2335G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||636|
22	46930736	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2332A>C|p.Asn778His|2332/11389|2332/9045|778/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2332A>C|p.Asn778His|2332/4194|2332/4194|778/1397||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.454A>C|p.Asn152His|456/2446|454/2316|152/771||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|MODERATE|CELSR1|ENSG00000075275|glycosylation_site:N-linked__GlcNAc..._|ENST00000262738|protein_coding|1/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2332A>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2332A>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>C|||||639|
22	46930750	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2318C>T|p.Ala773Val|2318/11389|2318/9045|773/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2318C>T|p.Ala773Val|2318/4194|2318/4194|773/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.440C>T|p.Ala147Val|442/2446|440/2316|147/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2318C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2318C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||653|
22	46930754	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2314A>G|p.Thr772Ala|2314/11389|2314/9045|772/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2314A>G|p.Thr772Ala|2314/4194|2314/4194|772/1397||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.436A>G|p.Thr146Ala|438/2446|436/2316|146/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2314A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2314A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||657|
22	46930934	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.2134C>T|p.Arg712Cys|2134/11389|2134/9045|712/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.2134C>T|p.Arg712Cys|2134/4194|2134/4194|712/1397||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.256C>T|p.Arg86Cys|258/2446|256/2316|86/771||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.2134C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_5|ENST00000262738|protein_coding|1/35|c.2134C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||837|
22	46931077	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1991C>G|p.Ser664Trp|1991/11389|1991/9045|664/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1991C>G|p.Ser664Trp|1991/4194|1991/4194|664/1397||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding|1/3|c.113C>G|p.Ser38Trp|115/2446|113/2316|38/771||WARNING_TRANSCRIPT_NO_START_CODON,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1991C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1991C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>G|||||980|
22	46931219	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1849G>A|p.Ala617Thr|1849/11389|1849/9045|617/3014||,T|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1849G>A|p.Ala617Thr|1849/4194|1849/4194|617/1397||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1849G>A||||||,T|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1849G>A||||||,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3G>A|||||28|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1G>A|||||1122|
22	46931267	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1801C>T|p.His601Tyr|1801/11389|1801/9045|601/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1801C>T|p.His601Tyr|1801/4194|1801/4194|601/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1801C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1801C>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||76|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||1170|
22	46931309	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1759A>G|p.Ile587Val|1759/11389|1759/9045|587/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1759A>G|p.Ile587Val|1759/4194|1759/4194|587/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1759A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_4|ENST00000262738|protein_coding|1/35|c.1759A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>G|||||118|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||1212|
22	46931402	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1666C>G|p.Leu556Val|1666/11389|1666/9045|556/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1666C>G|p.Leu556Val|1666/4194|1666/4194|556/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1666C>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_3|ENST00000262738|protein_coding|1/35|c.1666C>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>G|||||211|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>G|||||1305|
22	46931599	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1469A>G|p.Gln490Arg|1469/11389|1469/9045|490/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1469A>G|p.Gln490Arg|1469/4194|1469/4194|490/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1469A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_3|ENST00000262738|protein_coding|1/35|c.1469A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>G|||||408|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||1502|
22	46931953	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1115T>C|p.Val372Ala|1115/11389|1115/9045|372/3014||,G|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1115T>C|p.Val372Ala|1115/4194|1115/4194|372/1397||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1115T>C||||||,G|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_2|ENST00000262738|protein_coding|1/35|c.1115T>C||||||,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3T>C|||||762|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1T>C|||||1856|
22	46932032	.	T	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.1036A>T|p.Thr346Ser|1036/11389|1036/9045|346/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.1036A>T|p.Thr346Ser|1036/4194|1036/4194|346/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.1036A>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.1036A>T||||||,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>T|||||841|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>T|||||1935|
22	46932104	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.964A>G|p.Arg322Gly|964/11389|964/9045|322/3014||,C|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.964A>G|p.Arg322Gly|964/4194|964/4194|322/1397||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.964A>G||||||,C|sequence_feature|LOW|CELSR1|ENSG00000075275|domain:Cadherin_1|ENST00000262738|protein_coding|1/35|c.964A>G||||||,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3A>G|||||913|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1A>G|||||2007|
22	46932854	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000262738|protein_coding|1/35|c.214C>T|p.Arg72Trp|214/11389|214/9045|72/3014||,A|missense_variant|MODERATE|CELSR1|ENSG00000075275|transcript|ENST00000395964|protein_coding|1/3|c.214C>T|p.Arg72Trp|214/4194|214/4194|72/1397||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|10/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|15/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|17/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|23/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|14/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|4/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|24/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|20/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|16/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|8/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|9/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|3/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|12/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|19/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|7/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|1/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|18/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|2/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|22/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|5/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|6/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|11/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|21/35|c.214C>T||||||,A|sequence_feature|LOW|CELSR1|ENSG00000075275|topological_domain:Extracellular|ENST00000262738|protein_coding|13/35|c.214C>T||||||,A|upstream_gene_variant|MODIFIER|RP3-439F8.1|ENSG00000234869|transcript|ENST00000426112|antisense||n.-1G>A|||||4538|,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000454637|protein_coding||c.-3C>T|||||1663|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|CELSR1|ENSG00000075275|transcript|ENST00000497509|processed_transcript||n.-1C>T|||||2757|
22	47022827	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|1/18|c.131C>T|p.Ser44Leu|170/4316|131/1737|44/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000447351|protein_coding|2/3|c.131C>T|p.Ser44Leu|247/375|131/259|44/85||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|2/19|c.131C>T|p.Ser44Leu|344/4484|131/1737|44/578||,T|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000431155|protein_coding||c.*311C>T|||||31|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000490378|processed_transcript|1/1|n.74+14C>T||||||
22	47058973	.	A	G	.	.	ANN=G|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|5/18|c.503A>G|p.Lys168Arg|542/4316|503/1737|168/578||,G|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|6/19|c.503A>G|p.Lys168Arg|716/4484|503/1737|168/578||,G|sequence_feature|MODERATE|GRAMD4|ENSG00000075240|cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_|ENST00000361034|protein_coding|5/18|c.503A>G||||||,G|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.-2A>G|||||31|WARNING_TRANSCRIPT_INCOMPLETE
22	47064617	.	A	T	.	.	ANN=T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|11/18|c.962A>T|p.Glu321Val|1001/4316|962/1737|321/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|12/19|c.962A>T|p.Glu321Val|1175/4484|962/1737|321/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|7/9|c.428A>T|p.Glu143Val|429/669|428/668|143/221||WARNING_TRANSCRIPT_INCOMPLETE
22	47064743	.	C	T	.	.	ANN=T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|12/18|c.1022C>T|p.Ala341Val|1061/4316|1022/1737|341/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|13/19|c.1022C>T|p.Ala341Val|1235/4484|1022/1737|341/578||,T|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding|8/9|c.488C>T|p.Ala163Val|489/669|488/668|163/221||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|GRAMD4|ENSG00000075240|transmembrane_region:Transmembrane_region|ENST00000361034|protein_coding|12/18|c.1022C>T||||||
22	47068880	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|13/18|c.1225G>A|p.Ala409Thr|1264/4316|1225/1737|409/578||,A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|14/19|c.1225G>A|p.Ala409Thr|1438/4484|1225/1737|409/578||,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||1625|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||1816|WARNING_TRANSCRIPT_INCOMPLETE
22	47069700	.	G	A	.	.	ANN=A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000361034|protein_coding|14/18|c.1373G>A|p.Arg458His|1412/4316|1373/1737|458/578||,A|missense_variant|MODERATE|GRAMD4|ENSG00000075240|transcript|ENST00000406902|protein_coding|15/19|c.1373G>A|p.Arg458His|1586/4484|1373/1737|458/578||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|16/18|c.1373G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|17/18|c.1373G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|14/18|c.1373G>A||||||,A|sequence_feature|LOW|GRAMD4|ENSG00000075240|domain:GRAM|ENST00000361034|protein_coding|15/18|c.1373G>A||||||,A|upstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000408031|protein_coding||c.-97G>A|||||805|,A|downstream_gene_variant|MODIFIER|GRAMD4|ENSG00000075240|transcript|ENST00000456069|protein_coding||c.*669G>A|||||2636|WARNING_TRANSCRIPT_INCOMPLETE
22	47085983	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1447A>G|p.Ile483Val|1560/4450|1447/1614|483/537||,C|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.853A>G|p.Ile285Val|1442/1755|853/1020|285/339||,C|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*825A>G|||||17850|,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*825A>G||||||,C|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.536A>G||||||
22	47086007	.	C	A,G,T	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1423G>T|p.Gly475Trp|1536/4450|1423/1614|475/537||,G|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1423G>C|p.Gly475Arg|1536/4450|1423/1614|475/537||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1423G>A|p.Gly475Arg|1536/4450|1423/1614|475/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.829G>T|p.Gly277Trp|1418/1755|829/1020|277/339||,G|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.829G>C|p.Gly277Arg|1418/1755|829/1020|277/339||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.829G>A|p.Gly277Arg|1418/1755|829/1020|277/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>T|||||17826|,G|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>C|||||17826|,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>A|||||17826|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>T||||||,G|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>C||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*801G>A||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.512G>T||||||,G|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.512G>C||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.512G>A||||||
22	47086016	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1414C>T|p.Leu472Phe|1527/4450|1414/1614|472/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.820C>T|p.Leu274Phe|1409/1755|820/1020|274/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*792C>T|||||17817|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*792C>T||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.503C>T||||||
22	47086048	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|12/13|c.1382C>T|p.Thr461Met|1495/4450|1382/1614|461/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|11/12|c.788C>T|p.Thr263Met|1377/1755|788/1020|263/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*760C>T|||||17785|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|11/12|n.*760C>T||||||,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript|4/4|n.471C>T||||||
22	47091113	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|9/13|c.1043G>A|p.Arg348Gln|1156/4450|1043/1614|348/537||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|8/12|c.449G>A|p.Arg150Gln|1038/1755|449/1020|150/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/12|n.*421G>A|||||12720|,T|upstream_gene_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000471929|processed_transcript||n.-1G>A|||||1404|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|8/12|n.*421G>A||||||
22	47095235	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/13|c.918G>T|p.Leu306Phe|1031/4450|918/1614|306/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/12|c.324G>T|p.Leu108Phe|913/1755|324/1020|108/339||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*296G>T|||||8598|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*296G>T||||||
22	47095300	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|8/13|c.853G>A|p.Val285Met|966/4450|853/1614|285/537||,T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|7/12|c.259G>A|p.Val87Met|848/1755|259/1020|87/339||,T|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*231G>A|||||8533|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|7/12|n.*231G>A||||||
22	47103743	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.712G>T|p.Ala238Ser|825/4450|712/1614|238/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.118G>T|p.Ala40Ser|707/1755|118/1020|40/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.712G>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.712G>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*90G>T|||||90|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*90G>T||||||
22	47103823	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|6/13|c.632C>T|p.Thr211Met|745/4450|632/1614|211/537||,A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|5/12|c.38C>T|p.Thr13Met|627/1755|38/1020|13/339||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.632C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.632C>T||||||,A|3_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*10C>T|||||10|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|5/12|n.*10C>T||||||
22	47106996	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|5/13|c.556G>C|p.Asp186His|669/4450|556/1614|186/537||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|6/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|8/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|5/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|4/13|c.556G>C||||||,G|sequence_feature|LOW|CERK|ENSG00000100422|domain:DAGKc|ENST00000216264|protein_coding|7/13|c.556G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|4/11|n.505+1069G>C||||||,G|intron_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|4/11|c.-26+1069G>C||||||
22	47116075	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/13|c.287G>A|p.Arg96His|400/4450|287/1614|96/537||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.287G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.287G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.287G>A||||||,T|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-244G>A|||||12215|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/12|n.287G>A||||||
22	47116076	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|3/13|c.286C>T|p.Arg96Cys|399/4450|286/1614|96/537||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-245C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.286C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.286C>T||||||,A|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.286C>T||||||,A|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|3/12|c.-245C>T|||||12216|,A|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|3/12|n.286C>T||||||
22	47133984	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CERK|ENSG00000100422|transcript|ENST00000216264|protein_coding|1/13|c.62G>A|p.Cys21Tyr|175/4450|62/1614|21/537||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|1/13|c.62G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|3/13|c.62G>A||||||,T|sequence_feature|LOW|CERK|ENSG00000100422|region_of_interest:Required_for_binding_to_sulfatide_and_phosphoinositides|ENST00000216264|protein_coding|2/13|c.62G>A||||||,T|5_prime_UTR_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000541677|protein_coding|1/12|c.-469G>A|||||30124|,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000443629|nonsense_mediated_decay|1/12|n.62G>A||||||,T|non_coding_exon_variant|MODIFIER|CERK|ENSG00000100422|transcript|ENST00000460254|processed_transcript|1/2|n.4G>A||||||
22	47189552	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.274G>A|p.Glu92Lys|440/3787|274/1554|92/517||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.133G>A|p.Glu45Lys|429/1271|133/975|45/324||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.274G>A|p.Glu92Lys|389/1949|274/1377|92/458||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.217G>A|p.Glu73Lys|323/1886|217/1320|73/439||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.133G>A|p.Glu45Lys|521/2267|133/1413|45/470||,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*257G>A|||||4229|,A|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530G>A|||||39|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay|4/4|n.*257G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript|4/4|n.497G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.274G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.438G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.133G>A||||||
22	47189616	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.338C>T|p.Thr113Met|504/3787|338/1554|113/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.197C>T|p.Thr66Met|493/1271|197/975|66/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.338C>T|p.Thr113Met|453/1949|338/1377|113/458||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.281C>T|p.Thr94Met|387/1886|281/1320|94/439||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.197C>T|p.Thr66Met|585/2267|197/1413|66/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||44|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||48|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||103|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.338C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.502C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.197C>T||||||
22	47189630	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.352C>T|p.Pro118Ser|518/3787|352/1554|118/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.211C>T|p.Pro71Ser|507/1271|211/975|71/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.352C>T|p.Pro118Ser|467/1949|352/1377|118/458||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.295C>T|p.Pro99Ser|401/1886|295/1320|99/439||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.211C>T|p.Pro71Ser|599/2267|211/1413|71/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||58|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||62|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||117|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.352C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript|4/4|n.516C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.211C>T||||||
22	47189678	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.400C>G|p.Pro134Ala|566/3787|400/1554|134/517||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.259C>G|p.Pro87Ala|555/1271|259/975|87/324||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.400C>G|p.Pro134Ala|515/1949|400/1377|134/458||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.343C>G|p.Pro115Ala|449/1886|343/1320|115/439||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.259C>G|p.Pro87Ala|647/2267|259/1413|87/470||,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>G|||||106|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>G|||||110|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>G|||||165|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>G|||||6|,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.400C>G||||||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.259C>G||||||
22	47189679	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|3/13|c.401C>G|p.Pro134Arg|567/3787|401/1554|134/517||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|3/9|c.260C>G|p.Pro87Arg|556/1271|260/975|87/324||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/12|c.401C>G|p.Pro134Arg|516/1949|401/1377|134/458||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/11|c.344C>G|p.Pro115Arg|450/1886|344/1320|115/439||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|3/13|c.260C>G|p.Pro87Arg|648/2267|260/1413|87/470||,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>G|||||107|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>G|||||111|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>G|||||166|,G|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>G|||||7|,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|3/12|n.401C>G||||||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|4/14|n.260C>G||||||
22	47193392	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|4/13|c.512C>T|p.Ser171Leu|678/3787|512/1554|171/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|4/9|c.371C>T|p.Ser124Leu|667/1271|371/975|124/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|4/13|c.371C>T|p.Ser124Leu|759/2267|371/1413|124/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||3820|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||3824|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||3879|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>T|||||3720|,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+3654C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+3654C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/12|n.512C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|5/14|n.371C>T||||||
22	47193404	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|4/13|c.524C>T|p.Thr175Met|690/3787|524/1554|175/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|4/9|c.383C>T|p.Thr128Met|679/1271|383/975|128/324||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|4/13|c.383C>T|p.Thr128Met|771/2267|383/1413|128/470||,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441936|nonsense_mediated_decay||n.*313C>T|||||3832|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000486163|processed_transcript||n.*513C>T|||||3836|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000496139|processed_transcript||n.*530C>T|||||3891|,T|downstream_gene_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000472791|processed_transcript||n.*558C>T|||||3732|,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|3/11|c.460+3666C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|2/10|c.403+3666C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|4/12|n.524C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|5/14|n.383C>T||||||
22	47287174	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|6/13|c.721G>A|p.Ala241Thr|887/3787|721/1554|241/517||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000380995|protein_coding|6/9|c.580G>A|p.Ala194Thr|876/1271|580/975|194/324||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|5/12|c.544G>A|p.Ala182Thr|659/1949|544/1377|182/458||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|4/11|c.487G>A|p.Ala163Thr|593/1886|487/1320|163/439||,A|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|6/13|c.580G>A|p.Ala194Thr|968/2267|580/1413|194/470||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.721G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.487G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.580G>A||||||,A|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.580G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|5/12|n.650G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|7/14|n.580G>A||||||
22	47433018	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1253C>G|p.Ala418Gly|1419/3787|1253/1554|418/517||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1076C>G|p.Ala359Gly|1191/1949|1076/1377|359/458||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.1019C>G|p.Ala340Gly|1125/1886|1019/1320|340/439||,G|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1112C>G|p.Ala371Gly|1500/2267|1112/1413|371/470||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1253C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.1019C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1112C>G||||||,G|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1112C>G||||||,G|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*468C>G|||||145780|,G|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*140C>G|||||123688|,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*468C>G||||||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*140C>G||||||
22	47433062	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000337137|protein_coding|11/13|c.1297C>T|p.Arg433Cys|1463/3787|1297/1554|433/517||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000407381|protein_coding|10/12|c.1120C>T|p.Arg374Cys|1235/1949|1120/1377|374/458||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000355704|protein_coding|9/11|c.1063C>T|p.Arg355Cys|1169/1886|1063/1320|355/439||,T|missense_variant|MODERATE|TBC1D22A|ENSG00000054611|transcript|ENST00000406733|protein_coding|11/13|c.1156C>T|p.Arg386Cys|1544/2267|1156/1413|386/470||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|7/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|8/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|5/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|11/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|12/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|10/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|6/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000337137|protein_coding|9/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000337137|protein_coding|11/13|c.1297C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|3/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|9/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|10/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|8/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|4/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|5/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|6/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000355704|protein_coding|7/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000355704|protein_coding|9/11|c.1063C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|7/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|8/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|5/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|11/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|12/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|10/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|6/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|domain:Rab-GAP_TBC|ENST00000406733|protein_coding|9/13|c.1156C>T||||||,T|sequence_feature|LOW|TBC1D22A|ENSG00000054611|helix|ENST00000406733|protein_coding|11/13|c.1156C>T||||||,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*512C>T|||||145824|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*184C>T|||||123732|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000394449|nonsense_mediated_decay|10/12|n.*512C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|ENSG00000054611|transcript|ENST00000441162|nonsense_mediated_decay|12/14|n.*184C>T||||||
22	48972321	.	T	C	.	.	ANN=C|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|1/4|c.29T>C|p.Leu10Pro|204/2638|29/378|10/125||,C|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|1/3|c.113-70088T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|1/3|c.113-70088T>C||||||,C|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|1/3|n.57T>C||||||
22	49103591	.	G	A	.	.	ANN=A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/4|c.325G>A|p.Asp109Asn|326/546|325/545|109/180||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/4|c.325G>A|p.Asp109Asn|458/1508|325/399|109/132||,A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/4|c.304G>A|p.Asp102Asn|479/2638|304/378|102/125||,A|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/3|c.88G>A|p.Asp30Asn|198/833|88/162|30/53||,A|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/3|n.182G>A||||||
22	49103628	.	A	G	.	.	ANN=G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000336769|protein_coding|3/4|c.362A>G|p.Gln121Arg|363/546|362/545|121/180||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000402357|protein_coding|3/4|c.362A>G|p.Gln121Arg|495/1508|362/399|121/132||,G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000358295|protein_coding|3/4|c.341A>G|p.Gln114Arg|516/2638|341/378|114/125||,G|missense_variant|MODERATE|FAM19A5|ENSG00000219438|transcript|ENST00000406880|protein_coding|2/3|c.125A>G|p.Gln42Arg|235/833|125/162|42/53||,G|non_coding_exon_variant|MODIFIER|FAM19A5|ENSG00000219438|transcript|ENST00000473898|processed_transcript|2/3|n.219A>G||||||
22	50167960	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|13/13|c.3491G>A|p.Arg1164Gln|3521/4550|3491/3570|1164/1189||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|12/12|c.3098G>A|p.Arg1033Gln|3585/4614|3098/3177|1033/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|13/13|c.3098G>A|p.Arg1033Gln|3283/4312|3098/3177|1033/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|13/13|c.2162G>A|p.Arg721Gln|2229/2723|2162/2241|721/746||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|14/14|c.2276G>A|p.Arg759Gln|2694/3179|2276/2355|759/784||,T|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|13/13|c.3491G>A||||||,T|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|13/13|c.3098G>A||||||,T|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*492G>A|||||2844|,T|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|13/13|c.*421G>A|||||2773|,T|downstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.*551G>A|||||949|,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*492G>A||||||
22	50168042	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|13/13|c.3409A>G|p.Met1137Val|3439/4550|3409/3570|1137/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|12/12|c.3016A>G|p.Met1006Val|3503/4614|3016/3177|1006/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|13/13|c.3016A>G|p.Met1006Val|3201/4312|3016/3177|1006/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|13/13|c.2080A>G|p.Met694Val|2147/2723|2080/2241|694/746||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|14/14|c.2194A>G|p.Met732Val|2612/3179|2194/2355|732/784||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|13/13|c.3409A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.3016A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.3016A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.3016A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|13/13|c.3016A>G||||||,C|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*410A>G|||||2762|,C|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|13/13|c.*339A>G|||||2691|,C|downstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.*551A>G|||||867|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|12/12|n.*410A>G||||||
22	50169313	.	C	G	.	.	ANN=G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|12/13|c.3312G>C|p.Lys1104Asn|3342/4550|3312/3570|1104/1189||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|11/12|c.2919G>C|p.Lys973Asn|3406/4614|2919/3177|973/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|12/13|c.2919G>C|p.Lys973Asn|3104/4312|2919/3177|973/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|12/13|c.1983G>C|p.Lys661Asn|2050/2723|1983/2241|661/746||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|13/14|c.2097G>C|p.Lys699Asn|2515/3179|2097/2355|699/784||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404760|protein_coding|12/13|c.3312G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2919G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2919G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2919G>C||||||,G|sequence_feature|LOW|BRD1|ENSG00000100425|helix|ENST00000404034|protein_coding|12/13|c.2919G>C||||||,G|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/12|n.*313G>C|||||1491|,G|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|12/13|c.*242G>C|||||1420|,G|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|11/12|n.*313G>C||||||,G|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|2/2|n.147G>C||||||
22	50169714	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|11/13|c.3215C>T|p.Pro1072Leu|3245/4550|3215/3570|1072/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|10/12|c.2822C>T|p.Pro941Leu|3309/4614|2822/3177|941/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|11/13|c.2822C>T|p.Pro941Leu|3007/4312|2822/3177|941/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|11/13|c.1886C>T|p.Pro629Leu|1953/2723|1886/2241|629/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|12/14|c.2000C>T|p.Pro667Leu|2418/3179|2000/2355|667/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|13/13|c.3215C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|11/13|c.3215C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404760|protein_coding|12/13|c.3215C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|13/13|c.2822C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|11/13|c.2822C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:PWWP|ENST00000404034|protein_coding|12/13|c.2822C>T||||||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*216C>T|||||1090|,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|11/13|c.*145C>T|||||1019|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|10/12|n.*216C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron|1/2|n.50C>T||||||
22	50170743	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|10/13|c.2978C>T|p.Ala993Val|2994/4453|2978/2988|993/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|10/13|c.3060C>T|p.Arg1020Arg|3090/4550|3060/3570|1020/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|9/12|c.2667C>T|p.Arg889Arg|3154/4614|2667/3177|889/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|10/13|c.2667C>T|p.Arg889Arg|2852/4312|2667/3177|889/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|10/13|c.1731C>T|p.Arg577Arg|1798/2723|1731/2241|577/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|11/14|c.1845C>T|p.Arg615Arg|2263/3179|1845/2355|615/784||,A|3_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/12|n.*61C>T|||||61|,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||980|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|9/12|n.*61C>T||||||
22	50171451	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|9/13|c.2786C>T|p.Thr929Met|2802/4453|2786/2988|929/995||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|9/13|c.2868C>T|p.Asn956Asn|2898/4550|2868/3570|956/1189||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|8/12|c.2475C>T|p.Asn825Asn|2962/4614|2475/3177|825/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|9/13|c.2475C>T|p.Asn825Asn|2660/4312|2475/3177|825/1058||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|9/13|c.1539C>T|p.Asn513Asn|1606/2723|1539/2241|513/746||,A|synonymous_variant|LOW|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|10/14|c.1653C>T|p.Asn551Asn|2071/3179|1653/2355|551/784||,A|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000479985|retained_intron||n.-1C>T|||||1688|,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|8/12|n.1399C>T||||||
22	50187708	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2333C>T|p.Ala778Val|2363/4550|2333/3570|778/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2333C>T|p.Ala778Val|2820/4614|2333/3177|778/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2333C>T|p.Ala778Val|2518/4312|2333/3177|778/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2333C>T|p.Ala778Val|2349/4453|2333/2988|778/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1397C>T|p.Ala466Val|1464/2723|1397/2241|466/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.1118C>T|p.Ala373Val|1536/3179|1118/2355|373/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1229C>T||||||
22	50187715	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2326G>A|p.Gly776Arg|2356/4550|2326/3570|776/1189||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2326G>A|p.Gly776Arg|2813/4614|2326/3177|776/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2326G>A|p.Gly776Arg|2511/4312|2326/3177|776/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2326G>A|p.Gly776Arg|2342/4453|2326/2988|776/995||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1390G>A|p.Gly464Arg|1457/2723|1390/2241|464/746||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.1111G>A|p.Gly371Arg|1529/3179|1111/2355|371/784||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1222G>A||||||
22	50187793	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2248C>T|p.Leu750Phe|2278/4550|2248/3570|750/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2248C>T|p.Leu750Phe|2735/4614|2248/3177|750/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2248C>T|p.Leu750Phe|2433/4312|2248/3177|750/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2248C>T|p.Leu750Phe|2264/4453|2248/2988|750/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1312C>T|p.Leu438Phe|1379/2723|1312/2241|438/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.1033C>T|p.Leu345Phe|1451/3179|1033/2355|345/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1144C>T||||||
22	50187853	.	C	T	.	.	ANN=T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|7/13|c.2188G>A|p.Ala730Thr|2218/4550|2188/3570|730/1189||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|6/12|c.2188G>A|p.Ala730Thr|2675/4614|2188/3177|730/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|7/13|c.2188G>A|p.Ala730Thr|2373/4312|2188/3177|730/1058||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|6/13|c.2188G>A|p.Ala730Thr|2204/4453|2188/2988|730/995||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|7/13|c.1252G>A|p.Ala418Thr|1319/2723|1252/2241|418/746||,T|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|8/14|c.973G>A|p.Ala325Thr|1391/3179|973/2355|325/784||,T|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|6/12|n.1084G>A||||||
22	50191479	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/13|c.2072C>T|p.Pro691Leu|2102/4550|2072/3570|691/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/12|c.2072C>T|p.Pro691Leu|2559/4614|2072/3177|691/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/13|c.2072C>T|p.Pro691Leu|2257/4312|2072/3177|691/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/13|c.2072C>T|p.Pro691Leu|2088/4453|2072/2988|691/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/13|c.1136C>T|p.Pro379Leu|1203/2723|1136/2241|379/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/14|c.857C>T|p.Pro286Leu|1275/3179|857/2355|286/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/12|n.968C>T||||||
22	50191485	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|6/13|c.2066C>T|p.Ala689Val|2096/4550|2066/3570|689/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|5/12|c.2066C>T|p.Ala689Val|2553/4614|2066/3177|689/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|6/13|c.2066C>T|p.Ala689Val|2251/4312|2066/3177|689/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|5/13|c.2066C>T|p.Ala689Val|2082/4453|2066/2988|689/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|6/13|c.1130C>T|p.Ala377Val|1197/2723|1130/2241|377/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|7/14|c.851C>T|p.Ala284Val|1269/3179|851/2355|284/784||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|5/12|n.962C>T||||||
22	50192228	.	G	A	.	.	ANN=A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|5/13|c.1763C>T|p.Ala588Val|1793/4550|1763/3570|588/1189||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|4/12|c.1763C>T|p.Ala588Val|2250/4614|1763/3177|588/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|5/13|c.1763C>T|p.Ala588Val|1948/4312|1763/3177|588/1058||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|4/13|c.1763C>T|p.Ala588Val|1779/4453|1763/2988|588/995||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|5/13|c.842C>T|p.Ala281Val|909/2723|842/2241|281/746||,A|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|6/14|c.548C>T|p.Ala183Val|966/3179|548/2355|183/784||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|6/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404760|protein_coding|5/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404760|protein_coding|5/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|6/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|domain:Bromo|ENST00000404034|protein_coding|5/13|c.1763C>T||||||,A|sequence_feature|LOW|BRD1|ENSG00000100425|beta_strand|ENST00000404034|protein_coding|5/13|c.1763C>T||||||,A|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|4/12|n.659C>T||||||
22	50216725	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1241A>G|p.Glu414Gly|1271/4550|1241/3570|414/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1241A>G|p.Glu414Gly|1728/4614|1241/3177|414/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1241A>G|p.Glu414Gly|1426/4312|1241/3177|414/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1241A>G|p.Glu414Gly|1257/4453|1241/2988|414/995||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.158A>G|p.Glu53Gly|225/2723|158/2241|53/746||,C|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-290A>G|||||4704|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.137A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.225A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.129A>G||||||
22	50216758	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1208A>G|p.Asp403Gly|1238/4550|1208/3570|403/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1208A>G|p.Asp403Gly|1695/4614|1208/3177|403/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1208A>G|p.Asp403Gly|1393/4312|1208/3177|403/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1208A>G|p.Asp403Gly|1224/4453|1208/2988|403/995||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.125A>G|p.Asp42Gly|192/2723|125/2241|42/746||,C|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding|1/14|c.-323A>G|||||4737|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay|1/12|n.104A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.192A>G||||||,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript|1/2|n.96A>G||||||
22	50216932	.	T	C	.	.	ANN=C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.1034A>G|p.Asn345Ser|1064/4550|1034/3570|345/1189||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.1034A>G|p.Asn345Ser|1521/4614|1034/3177|345/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.1034A>G|p.Asn345Ser|1219/4312|1034/3177|345/1058||,C|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.1034A>G|p.Asn345Ser|1050/4453|1034/2988|345/995||,C|sequence_feature|LOW|BRD1|ENSG00000100425|turn|ENST00000404760|protein_coding|2/13|c.1034A>G||||||,C|sequence_feature|LOW|BRD1|ENSG00000100425|turn|ENST00000404034|protein_coding|2/13|c.1034A>G||||||,C|5_prime_UTR_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding|1/13|c.-50A>G|||||50|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1A>G|||||71|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419A>G|||||79|,C|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1A>G|||||79|,C|non_coding_exon_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript|1/2|n.18A>G||||||
22	50217649	.	C	G	.	.	ANN=G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404760|protein_coding|2/13|c.317G>C|p.Ser106Thr|347/4550|317/3570|106/1189||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000216267|protein_coding|1/12|c.317G>C|p.Ser106Thr|804/4614|317/3177|106/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000404034|protein_coding|2/13|c.317G>C|p.Ser106Thr|502/4312|317/3177|106/1058||,G|missense_variant|MODERATE|BRD1|ENSG00000100425|transcript|ENST00000457780|protein_coding|1/13|c.317G>C|p.Ser106Thr|333/4453|317/2988|106/995||,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000438393|nonsense_mediated_decay||n.-1G>C|||||788|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000542442|protein_coding||c.-68G>C|||||700|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000342989|protein_coding||c.-419G>C|||||796|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000459821|processed_transcript||n.-1G>C|||||700|,G|upstream_gene_variant|MODIFIER|BRD1|ENSG00000100425|transcript|ENST00000494833|processed_transcript||n.-1G>C|||||796|
22	50277333	.	G	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.23G>T|p.Cys8Phe|500/6893|23/3516|8/1171||
22	50277352	.	T	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.42T>G|p.Asp14Glu|519/6893|42/3516|14/1171||
22	50277410	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.100C>T|p.Pro34Ser|577/6893|100/3516|34/1171||
22	50277485	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.175G>C|p.Ala59Pro|652/6893|175/3516|59/1171||
22	50277494	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.184G>A|p.Gly62Ser|661/6893|184/3516|62/1171||
22	50277501	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.191C>T|p.Thr64Met|668/6893|191/3516|64/1171||
22	50277614	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.304G>A|p.Val102Met|781/6893|304/3516|102/1171||
22	50277639	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.329G>A|p.Arg110Gln|806/6893|329/3516|110/1171||
22	50277977	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.667A>G|p.Thr223Ala|1144/6893|667/3516|223/1171||
22	50278026	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.716T>C|p.Met239Thr|1193/6893|716/3516|239/1171||
22	50278218	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.908A>G|p.Lys303Arg|1385/6893|908/3516|303/1171||,G|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_2|ENST00000216268|protein_coding|2/2|c.908A>G||||||
22	50278356	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1046C>G|p.Pro349Arg|1523/6893|1046/3516|349/1171||
22	50278404	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1094C>T|p.Pro365Leu|1571/6893|1094/3516|365/1171||
22	50278446	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1136C>T|p.Pro379Leu|1613/6893|1136/3516|379/1171||
22	50278455	.	A	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1145A>T|p.Glu382Val|1622/6893|1145/3516|382/1171||
22	50278541	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1231G>A|p.Val411Met|1708/6893|1231/3516|411/1171||
22	50278568	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1258A>G|p.Ile420Val|1735/6893|1258/3516|420/1171||
22	50278584	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1274C>T|p.Ala425Val|1751/6893|1274/3516|425/1171||
22	50278745	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1435T>C|p.Tyr479His|1912/6893|1435/3516|479/1171||,C|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_3|ENST00000216268|protein_coding|2/2|c.1435T>C||||||
22	50278947	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1637C>G|p.Thr546Arg|2114/6893|1637/3516|546/1171||
22	50278956	.	A	G	.	.	ANN=G|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1646A>G|p.Asn549Ser|2123/6893|1646/3516|549/1171||
22	50278971	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1661C>T|p.Pro554Leu|2138/6893|1661/3516|554/1171||
22	50279061	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1751G>A|p.Arg584Gln|2228/6893|1751/3516|584/1171||,A|sequence_feature|LOW|ZBED4|ENSG00000100426|zinc_finger_region:BED-type_4|ENST00000216268|protein_coding|2/2|c.1751G>A||||||
22	50279184	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.1874C>T|p.Pro625Leu|2351/6893|1874/3516|625/1171||
22	50279610	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2300C>T|p.Ser767Leu|2777/6893|2300/3516|767/1171||
22	50279628	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2318C>T|p.Ser773Leu|2795/6893|2318/3516|773/1171||
22	50280044	.	A	T	.	.	ANN=T|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.2734A>T|p.Met912Leu|3211/6893|2734/3516|912/1171||
22	50280759	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ZBED4|ENSG00000100426|transcript|ENST00000216268|protein_coding|2/2|c.3449T>C|p.Met1150Thr|3926/6893|3449/3516|1150/1171||
22	50297444	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|4/4|c.527G>A|p.Ser176Asn|528/674|527/615|176/204||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.*42G>A|||||42|,T|downstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.*590G>A|||||165|,T|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1569C>T||||||
22	50297485	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|4/4|c.486G>C|p.Glu162Asp|487/674|486/615|162/204||WARNING_TRANSCRIPT_NO_START_CODON,G|3_prime_UTR_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|10/10|c.*1G>C|||||1|,G|downstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.*590G>C|||||124|,G|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.1610C>G||||||
22	50297888	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|9/10|c.1177A>G|p.Ile393Val|1451/5350|1177/1467|393/488||,C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding|3/4|c.382A>G|p.Ile128Val|383/674|382/615|128/204||WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA|1/1|n.2013T>C||||||,C|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|5/6|n.584A>G||||||
22	50302962	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|6/10|c.698G>A|p.Arg233Gln|972/5350|698/1467|233/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||1396|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|CITF22-1A6.3|ENSG00000273192|transcript|ENST00000610245|lincRNA||n.*2349C>T|||||4738|,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|2/6|n.227G>A||||||
22	50303554	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.652A>G|p.Ile218Val|926/5350|652/1467|218/488||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.652A>G||||||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.652A>G||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2A>G|||||1988|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.181A>G||||||
22	50303569	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.637G>A|p.Ala213Thr|911/5350|637/1467|213/488||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|6/10|c.637G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|5/10|c.637G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2003|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.166G>A||||||
22	50303575	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|5/10|c.631C>T|p.Arg211Cys|905/5350|631/1467|211/488||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2009|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay|1/6|n.160C>T||||||
22	50304136	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.415C>T|p.His139Tyr|689/5350|415/1467|139/488||,A|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.415C>T||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2C>T|||||2570|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||400|
22	50304166	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.385A>G|p.Met129Val|659/5350|385/1467|129/488||,C|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.385A>G||||||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2A>G|||||2600|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3A>G|||||430|
22	50304192	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.359G>A|p.Arg120Gln|633/5350|359/1467|120/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2626|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||456|
22	50304232	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|4/10|c.319G>A|p.Val107Met|593/5350|319/1467|107/488||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|3/10|c.319G>A||||||,T|sequence_feature|LOW|ALG12|ENSG00000182858|transmembrane_region:Transmembrane_region|ENST00000330817|protein_coding|4/10|c.319G>A||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000486602|protein_coding||c.-2G>A|||||2666|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||496|
22	50307162	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|3/10|c.166G>A|p.Asp56Asn|440/5350|166/1467|56/488||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3G>A|||||3426|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276C>T|||||4653|WARNING_TRANSCRIPT_INCOMPLETE
22	50307386	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding|2/10|c.28C>T|p.Arg10Trp|302/5350|28/1467|10/488||,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding||c.-136G>A|||||4897|,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000492791|nonsense_mediated_decay||n.-3C>T|||||3650|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.-276G>A|||||4429|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding||c.-75G>A|||||4958|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron||n.-1G>A|||||4995|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding||c.-38G>A|||||4995|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding||c.-38G>A|||||4995|
22	50313452	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|3/11|c.287C>T|p.Ala96Val|422/1577|287/1209|96/402||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|4/7|c.287C>T|p.Ala96Val|562/963|287/688|96/228||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|3/10|c.287C>T|p.Ala96Val|361/1357|287/1062|96/353||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|3/9|c.287C>T|p.Ala96Val|324/1242|287/978|96/325||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|3/9|c.287C>T|p.Ala96Val|324/1230|287/966|96/321||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||1346|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1C>T|||||1485|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1C>T|||||1503|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1C>T|||||1780|,T|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>T|||||3406|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|3/9|n.324C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|3/7|n.287C>T||||||
22	50313826	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/11|c.346T>C|p.Phe116Leu|481/1577|346/1209|116/402||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/7|c.346T>C|p.Phe116Leu|621/963|346/688|116/228||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/10|c.346T>C|p.Phe116Leu|420/1357|346/1062|116/353||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/9|c.346T>C|p.Phe116Leu|383/1242|346/978|116/325||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/9|c.346T>C|p.Phe116Leu|383/1230|346/966|116/321||,C|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275A>G|||||1720|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1T>C|||||1111|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1T>C|||||1129|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1T>C|||||1406|,C|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1T>C|||||3032|,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/9|n.383T>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/7|n.346T>C||||||
22	50313880	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|4/11|c.400G>A|p.Gly134Ser|535/1577|400/1209|134/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|5/7|c.400G>A|p.Gly134Ser|675/963|400/688|134/228||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|4/10|c.400G>A|p.Gly134Ser|474/1357|400/1062|134/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|4/9|c.400G>A|p.Gly134Ser|437/1242|400/978|134/325||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|4/9|c.400G>A|p.Gly134Ser|437/1230|400/966|134/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||1774|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.-1G>A|||||1057|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.-1G>A|||||1075|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.-1G>A|||||1352|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||2978|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|4/9|n.437G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|4/7|n.400G>A||||||
22	50315361	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.544G>A|p.Asp182Asn|679/1577|544/1209|182/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.544G>A|p.Asp182Asn|819/963|544/688|182/228||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.544G>A|p.Asp182Asn|618/1357|544/1062|182/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.544G>A|p.Asp182Asn|581/1242|544/978|182/325||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.544G>A|p.Asp182Asn|581/1230|544/966|182/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||3255|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||1497|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.581G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.544G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.314G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.296G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.130G>A||||||
22	50315363	.	C	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.546C>A|p.Asp182Glu|681/1577|546/1209|182/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.546C>A|p.Asp182Glu|821/963|546/688|182/228||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.546C>A|p.Asp182Glu|620/1357|546/1062|182/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.546C>A|p.Asp182Glu|583/1242|546/978|182/325||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.546C>A|p.Asp182Glu|583/1230|546/966|182/321||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>T|||||3257|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>A|||||1495|,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.583C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.546C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.316C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.298C>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.132C>A||||||
22	50315382	.	C	G	.	.	ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.565C>G|p.Arg189Gly|700/1577|565/1209|189/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.565C>G|p.Arg189Gly|840/963|565/688|189/228||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.565C>G|p.Arg189Gly|639/1357|565/1062|189/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.565C>G|p.Arg189Gly|602/1242|565/978|189/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.565C>G|p.Arg189Gly|602/1230|565/966|189/321||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>C|||||3276|,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1C>G|||||1476|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.602C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.565C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.335C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.317C>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.151C>G||||||
22	50315386	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|5/11|c.569A>G|p.Asn190Ser|704/1577|569/1209|190/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/7|c.569A>G|p.Asn190Ser|844/963|569/688|190/228||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/10|c.569A>G|p.Asn190Ser|643/1357|569/1062|190/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/9|c.569A>G|p.Asn190Ser|606/1242|569/978|190/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/9|c.569A>G|p.Asn190Ser|606/1230|569/966|190/321||,G|sequence_feature|MODERATE|CRELD2|ENSG00000184164|glycosylation_site:N-linked__GlcNAc..._|ENST00000328268|protein_coding|5/10|c.569A>G||||||,G|sequence_feature|MODERATE|CRELD2|ENSG00000184164|glycosylation_site:N-linked__GlcNAc..._|ENST00000403427|protein_coding|5/9|c.569A>G||||||,G|sequence_feature|MODERATE|CRELD2|ENSG00000184164|glycosylation_site:N-linked__GlcNAc..._|ENST00000407217|protein_coding|5/9|c.569A>G||||||,G|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275T>C|||||3280|,G|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1A>G|||||1472|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/9|n.606A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/7|n.569A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript|2/3|n.339A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/4|n.321A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/5|n.155A>G||||||
22	50316007	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|6/11|c.655G>A|p.Val219Met|790/1577|655/1209|219/402||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.593-253G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.593-253G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||3901|,A|upstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron||n.-1G>A|||||851|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||326|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding|6/6|c.593-253G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|5/9|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|5/8|n.630-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|5/8|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|5/8|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|5/6|n.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|2/3|n.345-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|1/4|n.179-253G>A||||||
22	50316902	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/11|c.856G>A|p.Glu286Lys|991/1577|856/1209|286/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/10|c.709G>A|p.Glu237Lys|783/1357|709/1062|237/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/9|c.709G>A|p.Glu237Lys|746/1230|709/966|237/321||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.709G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.709G>A||||||,A|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275C>T|||||4796|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||547|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||1221|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+547G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/9|n.746G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.709G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|4/4|n.461G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/5|n.295G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.45G>A||||||
22	50316906	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|8/11|c.860C>T|p.Pro287Leu|995/1577|860/1209|287/402||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|7/10|c.713C>T|p.Pro238Leu|787/1357|713/1062|238/353||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/9|c.713C>T|p.Pro238Leu|750/1230|713/966|238/321||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|5/10|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|6/10|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000328268|protein_coding|7/10|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|5/9|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|6/9|c.713C>T||||||,T|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_1|ENST00000407217|protein_coding|7/9|c.713C>T||||||,T|upstream_gene_variant|MODIFIER|ALG12|ENSG00000182858|transcript|ENST00000330817|protein_coding||c.-275G>A|||||4800|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||551|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||1225|,T|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|6/8|c.688+551C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|7/9|n.750C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron|7/7|n.713C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript|4/4|n.465C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|3/5|n.299C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.49C>T||||||
22	50318061	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.973G>C|p.Glu325Gln|1108/1577|973/1209|325/402||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.826G>C|p.Glu276Gln|900/1357|826/1062|276/353||,C|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.742G>C|p.Glu248Gln|779/1242|742/978|248/325||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.973G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.973G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.973G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.826G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.826G>C||||||,C|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.826G>C||||||,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>C|||||1706|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>C|||||1013|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>C|||||2380|,C|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>C|||||1149|,C|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-1004G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.863G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.412G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1204G>C||||||
22	50318079	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.991G>A|p.Ala331Thr|1126/1577|991/1209|331/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.844G>A|p.Ala282Thr|918/1357|844/1062|282/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.760G>A|p.Ala254Thr|797/1242|760/978|254/325||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.991G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.991G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.991G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.844G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.844G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.844G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||1724|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||1031|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||2398|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||1167|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-986G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.881G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.430G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1222G>A||||||
22	50318091	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|9/11|c.1003G>A|p.Gly335Arg|1138/1577|1003/1209|335/402||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|8/10|c.856G>A|p.Gly286Arg|930/1357|856/1062|286/353||,A|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|7/9|c.772G>A|p.Gly258Arg|809/1242|772/978|258/325||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1003G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1003G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1003G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.856G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.856G>A||||||,A|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.856G>A||||||,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963G>A|||||1736|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855G>A|||||1043|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525G>A|||||2410|,A|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471G>A|||||1179|,A|intron_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|7/8|c.773-974G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|8/9|n.893G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript|4/5|n.442G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.1234G>A||||||
22	50319079	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1030T>G|p.Ser344Ala|1165/1577|1030/1209|344/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.883T>G|p.Ser295Ala|957/1357|883/1062|295/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.799T>G|p.Ser267Ala|836/1242|799/978|267/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.787T>G|p.Ser263Ala|824/1230|787/966|263/321||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|8/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|9/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000404488|protein_coding|10/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1030T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|7/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|8/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|repeat:FU_2|ENST00000328268|protein_coding|9/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.883T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.799T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.799T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.799T>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.787T>G||||||,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963T>G|||||2724|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855T>G|||||2031|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525T>G|||||3398|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471T>G|||||2167|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598T>G|||||302|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.920T>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2222T>G||||||
22	50319170	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1121A>G|p.Glu374Gly|1256/1577|1121/1209|374/402||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.974A>G|p.Glu325Gly|1048/1357|974/1062|325/353||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.890A>G|p.Glu297Gly|927/1242|890/978|297/325||,G|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.878A>G|p.Glu293Gly|915/1230|878/966|293/321||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|9/11|c.1121A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000404488|protein_coding|10/11|c.1121A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000404488|protein_coding|10/11|c.1121A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|8/10|c.974A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000328268|protein_coding|9/10|c.974A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000328268|protein_coding|9/10|c.974A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|7/9|c.890A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|domain:EGF-like_2|ENST00000403427|protein_coding|8/9|c.890A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000403427|protein_coding|8/9|c.890A>G||||||,G|sequence_feature|LOW|CRELD2|ENSG00000184164|disulfide_bond|ENST00000407217|protein_coding|8/9|c.878A>G||||||,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963A>G|||||2815|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855A>G|||||2122|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525A>G|||||3489|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471A>G|||||2258|,G|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598A>G|||||393|,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1011A>G||||||,G|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2313A>G||||||
22	50319193	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000404488|protein_coding|10/11|c.1144C>T|p.Pro382Ser|1279/1577|1144/1209|382/402||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000328268|protein_coding|9/10|c.997C>T|p.Pro333Ser|1071/1357|997/1062|333/353||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000403427|protein_coding|8/9|c.913C>T|p.Pro305Ser|950/1242|913/978|305/325||,T|missense_variant|MODERATE|CRELD2|ENSG00000184164|transcript|ENST00000407217|protein_coding|8/9|c.901C>T|p.Pro301Ser|938/1230|901/966|301/321||,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000450207|protein_coding||c.*963C>T|||||2838|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000482956|retained_intron||n.*855C>T|||||2145|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000498354|processed_transcript||n.*525C>T|||||3512|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000462253|processed_transcript||n.*471C>T|||||2281|,T|downstream_gene_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000444954|processed_transcript||n.*598C>T|||||416|,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000483652|retained_intron|9/9|n.1034C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|ENSG00000184164|transcript|ENST00000487969|retained_intron|1/2|n.2336C>T||||||
22	50356693	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|6/6|c.899T>C|p.Val300Ala|1334/2369|899/981|300/326||,C|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723T>C|||||1399|
22	50356731	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PIM3|ENSG00000198355|transcript|ENST00000360612|protein_coding|6/6|c.937C>T|p.Pro313Ser|1372/2369|937/981|313/326||,T|downstream_gene_variant|MODIFIER|PIM3|ENSG00000198355|transcript|ENST00000467480|retained_intron||n.*723C>T|||||1437|
22	50435480	.	A	G	.	.	ANN=G|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|12/13|c.998T>C|p.Leu333Pro|1095/3500|998/1011|333/336||,G|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|14/15|c.998T>C|p.Leu333Pro|1263/3668|998/1011|333/336||
22	50435827	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|11/13|c.896G>A|p.Cys299Tyr|993/3500|896/1011|299/336||,T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|13/15|c.896G>A|p.Cys299Tyr|1161/3668|896/1011|299/336||
22	50436488	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|9/13|c.785C>T|p.Pro262Leu|882/3500|785/1011|262/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|11/15|c.785C>T|p.Pro262Leu|1050/3668|785/1011|262/336||
22	50436571	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|8/13|c.769C>T|p.Arg257Cys|866/3500|769/1011|257/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|10/15|c.769C>T|p.Arg257Cys|1034/3668|769/1011|257/336||
22	50436604	.	G	C	.	.	ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|8/13|c.736C>G|p.Arg246Gly|833/3500|736/1011|246/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|10/15|c.736C>G|p.Arg246Gly|1001/3668|736/1011|246/336||
22	50437747	.	G	C	.	.	ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|7/13|c.574C>G|p.Arg192Gly|671/3500|574/1011|192/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|9/15|c.574C>G|p.Arg192Gly|839/3668|574/1011|192/336||
22	50438279	.	T	C	.	.	ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|5/13|c.452A>G|p.Glu151Gly|549/3500|452/1011|151/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|7/15|c.452A>G|p.Glu151Gly|717/3668|452/1011|151/336||
22	50438379	.	A	C	.	.	ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|5/13|c.352T>G|p.Trp118Gly|449/3500|352/1011|118/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|7/15|c.352T>G|p.Trp118Gly|617/3668|352/1011|118/336||
22	50438918	.	T	C	.	.	ANN=C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|4/13|c.323A>G|p.His108Arg|420/3500|323/1011|108/336||,C|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|6/15|c.323A>G|p.His108Arg|588/3668|323/1011|108/336||
22	50439194	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.208G>A|p.Gly70Arg|305/3500|208/1011|70/336||,T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.208G>A|p.Gly70Arg|473/3668|208/1011|70/336||
22	50439202	.	C	T	.	.	ANN=T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.200G>A|p.Arg67Gln|297/3500|200/1011|67/336||,T|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.200G>A|p.Arg67Gln|465/3668|200/1011|67/336||
22	50439203	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.199C>T|p.Arg67Trp|296/3500|199/1011|67/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.199C>T|p.Arg67Trp|464/3668|199/1011|67/336||
22	50439284	.	G	A	.	.	ANN=A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000341280|protein_coding|3/13|c.118C>T|p.Arg40Trp|215/3500|118/1011|40/336||,A|missense_variant|MODERATE|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding|5/15|c.118C>T|p.Arg40Trp|383/3668|118/1011|40/336||
22	50454859	.	A	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2384T>A|p.Met795Lys|2384/2549|2384/2549|795/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2336T>A|p.Met779Lys|2336/2505|2336/2505|779/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2276T>A|p.Met759Lys|2276/2445|2276/2445|759/814||,T|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266T>A|||||3771|
22	50454933	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2310G>C|p.Gln770His|2310/2549|2310/2549|770/848||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2262G>C|p.Gln754His|2262/2505|2262/2505|754/834||,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2202G>C|p.Gln734His|2202/2445|2202/2445|734/814||,G|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266G>C|||||3845|
22	50454962	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|13/14|c.2281C>G|p.His761Asp|2281/2549|2281/2549|761/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|13/14|c.2233C>G|p.His745Asp|2233/2505|2233/2505|745/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|12/13|c.2173C>G|p.His725Asp|2173/2445|2173/2445|725/814||,C|upstream_gene_variant|MODIFIER|IL17REL|ENSG00000188263|transcript|ENST00000389983|protein_coding||c.-266C>G|||||3874|
22	50468873	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2237C>T|p.Pro746Leu|2237/2549|2237/2549|746/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2189C>T|p.Pro730Leu|2189/2505|2189/2505|730/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2129C>T|p.Pro710Leu|2129/2445|2129/2445|710/814||
22	50468907	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2203G>A|p.Gly735Ser|2203/2549|2203/2549|735/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2155G>A|p.Gly719Ser|2155/2505|2155/2505|719/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2095G>A|p.Gly699Ser|2095/2445|2095/2445|699/814||
22	50468933	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2177C>A|p.Ala726Glu|2177/2549|2177/2549|726/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2129C>A|p.Ala710Glu|2129/2505|2129/2505|710/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2069C>A|p.Ala690Glu|2069/2445|2069/2445|690/814||
22	50468991	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.2119A>G|p.Asn707Asp|2119/2549|2119/2549|707/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.2071A>G|p.Asn691Asp|2071/2505|2071/2505|691/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.2011A>G|p.Asn671Asp|2011/2445|2011/2445|671/814||
22	50469215	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|12/14|c.1895C>A|p.Ala632Glu|1895/2549|1895/2549|632/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|12/14|c.1847C>A|p.Ala616Glu|1847/2505|1847/2505|616/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|11/13|c.1787C>A|p.Ala596Glu|1787/2445|1787/2445|596/814||
22	50470155	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1715G>A|p.Arg572His|1715/2549|1715/2549|572/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1667G>A|p.Arg556His|1667/2505|1667/2505|556/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1607G>A|p.Arg536His|1607/2445|1607/2445|536/814||
22	50470162	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1708G>A|p.Val570Met|1708/2549|1708/2549|570/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1660G>A|p.Val554Met|1660/2505|1660/2505|554/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1600G>A|p.Val534Met|1600/2445|1600/2445|534/814||
22	50470176	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1694C>G|p.Thr565Ser|1694/2549|1694/2549|565/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1646C>G|p.Thr549Ser|1646/2505|1646/2505|549/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1586C>G|p.Thr529Ser|1586/2445|1586/2445|529/814||
22	50470215	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1655C>T|p.Pro552Leu|1655/2549|1655/2549|552/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1607C>T|p.Pro536Leu|1607/2505|1607/2505|536/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1547C>T|p.Pro516Leu|1547/2445|1547/2445|516/814||
22	50470291	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1579G>A|p.Asp527Asn|1579/2549|1579/2549|527/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1531G>A|p.Asp511Asn|1531/2505|1531/2505|511/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1471G>A|p.Asp491Asn|1471/2445|1471/2445|491/814||
22	50470516	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|11/14|c.1354G>A|p.Ala452Thr|1354/2549|1354/2549|452/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|11/14|c.1306G>A|p.Ala436Thr|1306/2505|1306/2505|436/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|10/13|c.1246G>A|p.Ala416Thr|1246/2445|1246/2445|416/814||
22	50471646	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|10/14|c.1316T>C|p.Leu439Pro|1316/2549|1316/2549|439/848||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|10/14|c.1268T>C|p.Leu423Pro|1268/2505|1268/2505|423/834||,G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|9/13|c.1208T>C|p.Leu403Pro|1208/2445|1208/2445|403/814||
22	50471685	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|10/14|c.1277A>G|p.Lys426Arg|1277/2549|1277/2549|426/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|10/14|c.1229A>G|p.Lys410Arg|1229/2505|1229/2505|410/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|9/13|c.1169A>G|p.Lys390Arg|1169/2445|1169/2445|390/814||
22	50472908	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|9/14|c.965G>T|p.Arg322Ile|965/2549|965/2549|322/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|8/13|c.857G>T|p.Arg286Ile|857/2445|857/2445|286/814||,A|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|8/13|c.922-17G>T||||||
22	50479680	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|8/14|c.857T>C|p.Leu286Ser|857/2505|857/2505|286/834||,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/13|c.938+370T>C||||||WARNING_TRANSCRIPT_INCOMPLETE,G|intron_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/12|c.830+370T>C||||||
22	50480054	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/14|c.934G>A|p.Val312Ile|934/2549|934/2549|312/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/14|c.826G>A|p.Val276Ile|826/2505|826/2505|276/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/13|c.826G>A|p.Val276Ile|826/2445|826/2445|276/814||
22	50480108	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|8/14|c.880G>A|p.Glu294Lys|880/2549|880/2549|294/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|7/14|c.772G>A|p.Glu258Lys|772/2505|772/2505|258/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|7/13|c.772G>A|p.Glu258Lys|772/2445|772/2445|258/814||
22	50484329	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.572G>A|p.Arg191His|572/2549|572/2549|191/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.464G>A|p.Arg155His|464/2505|464/2505|155/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.464G>A|p.Arg155His|464/2445|464/2445|155/814||,T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308G>A|||||1268|
22	50484343	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.558C>A|p.Asp186Glu|558/2549|558/2549|186/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.450C>A|p.Asp150Glu|450/2505|450/2505|150/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.450C>A|p.Asp150Glu|450/2445|450/2445|150/814||,T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308C>A|||||1254|
22	50484345	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|6/14|c.556G>A|p.Asp186Asn|556/2549|556/2549|186/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|5/14|c.448G>A|p.Asp150Asn|448/2505|448/2505|150/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|5/13|c.448G>A|p.Asp150Asn|448/2445|448/2445|150/814||,T|downstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript||n.*308G>A|||||1252|
22	50485701	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|5/14|c.397C>G|p.Pro133Ala|397/2549|397/2549|133/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|4/14|c.289C>G|p.Pro97Ala|289/2505|289/2505|97/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|4/13|c.289C>G|p.Pro97Ala|289/2445|289/2445|97/814||,C|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|3/3|n.204C>G||||||
22	50485718	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|5/14|c.380T>G|p.Leu127Trp|380/2549|380/2549|127/848||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|4/14|c.272T>G|p.Leu91Trp|272/2505|272/2505|91/834||,C|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|4/13|c.272T>G|p.Leu91Trp|272/2445|272/2445|91/814||,C|splice_region_variant&non_coding_exon_variant|LOW|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|3/3|n.187T>G||||||
22	50487683	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|4/14|c.367G>A|p.Val123Met|367/2549|367/2549|123/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|3/14|c.259G>A|p.Val87Met|259/2505|259/2505|87/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|3/13|c.259G>A|p.Val87Met|259/2445|259/2445|87/814||,T|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|2/3|n.179G>A||||||
22	50488547	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.289C>T|p.Arg97Trp|289/2549|289/2549|97/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.181C>T|p.Arg61Trp|181/2505|181/2505|61/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.181C>T|p.Arg61Trp|181/2445|181/2445|61/814||,A|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.101C>T||||||
22	50488562	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.274G>A|p.Glu92Lys|274/2549|274/2549|92/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.166G>A|p.Glu56Lys|166/2505|166/2505|56/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.166G>A|p.Glu56Lys|166/2445|166/2445|56/814||,T|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.86G>A||||||
22	50488628	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.208G>A|p.Ala70Thr|208/2549|208/2549|70/848||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.100G>A|p.Ala34Thr|100/2505|100/2505|34/834||,T|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.100G>A|p.Ala34Thr|100/2445|100/2445|34/814||,T|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.20G>A||||||
22	50488642	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding|3/14|c.194C>T|p.Pro65Leu|194/2549|194/2549|65/848||WARNING_TRANSCRIPT_INCOMPLETE,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000266182|protein_coding|2/14|c.86C>T|p.Pro29Leu|86/2505|86/2505|29/834||,A|missense_variant|MODERATE|TTLL8|ENSG00000138892|transcript|ENST00000440475|protein_coding|2/13|c.86C>T|p.Pro29Leu|86/2445|86/2445|29/814||,A|non_coding_exon_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000477219|processed_transcript|1/3|n.6C>T||||||
22	50500032	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|12/12|c.1114G>A|p.Val372Met|1721/3933|1114/1134|372/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|12/12|c.1114G>A|p.Val372Met|1389/3601|1114/1134|372/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|11/11|c.1012G>A|p.Val338Met|1108/1656|1012/1032|338/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|11/11|c.1024G>A|p.Val342Met|1154/1594|1024/1044|342/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|11/11|c.877G>A|p.Val293Met|1001/1336|877/897|293/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|10/10|c.958G>A|p.Val320Met|1138/1287|958/978|320/325||,T|upstream_gene_variant|MODIFIER|TTLL8|ENSG00000138892|transcript|ENST00000433387|protein_coding||c.-1G>A|||||4668|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|5/5|n.471G>A||||||
22	50502491	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.1031A>G|p.Asn344Ser|1638/3933|1031/1134|344/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.1031A>G|p.Asn344Ser|1306/3601|1031/1134|344/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.929A>G|p.Asn310Ser|1025/1656|929/1032|310/343||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.941A>G|p.Asn314Ser|1071/1594|941/1044|314/347||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.794A>G|p.Asn265Ser|918/1336|794/897|265/298||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.875A>G|p.Asn292Ser|1055/1287|875/978|292/325||,C|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.388A>G||||||
22	50502590	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|11/12|c.932T>A|p.Val311Glu|1539/3933|932/1134|311/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|11/12|c.932T>A|p.Val311Glu|1207/3601|932/1134|311/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|10/11|c.830T>A|p.Val277Glu|926/1656|830/1032|277/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|10/11|c.842T>A|p.Val281Glu|972/1594|842/1044|281/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|10/11|c.695T>A|p.Val232Glu|819/1336|695/897|232/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|9/10|c.776T>A|p.Val259Glu|956/1287|776/978|259/325||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|11/12|c.932T>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|10/11|c.842T>A||||||,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|4/5|n.289T>A||||||
22	50506936	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|10/12|c.820A>G|p.Thr274Ala|1427/3933|820/1134|274/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|10/12|c.820A>G|p.Thr274Ala|1095/3601|820/1134|274/377||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|9/11|c.718A>G|p.Thr240Ala|814/1656|718/1032|240/343||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|9/11|c.730A>G|p.Thr244Ala|860/1594|730/1044|244/347||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|9/11|c.583A>G|p.Thr195Ala|707/1336|583/897|195/298||,C|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|8/10|c.664A>G|p.Thr222Ala|844/1287|664/978|222/325||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|10/12|c.820A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|9/12|c.820A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|9/11|c.730A>G||||||,C|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|8/11|c.730A>G||||||,C|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.*758A>G|||||2032|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.*236A>G|||||2035|,C|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript|3/5|n.177A>G||||||
22	50512705	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|8/12|c.654C>A|p.Asn218Lys|1261/3933|654/1134|218/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|8/12|c.654C>A|p.Asn218Lys|929/3601|654/1134|218/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|7/11|c.552C>A|p.Asn184Lys|648/1656|552/1032|184/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|7/11|c.564C>A|p.Asn188Lys|694/1594|564/1044|188/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|7/11|c.417C>A|p.Asn139Lys|541/1336|417/897|139/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|6/10|c.498C>A|p.Asn166Lys|678/1287|498/978|166/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|7/8|c.564C>A|p.Asn188Lys|653/758|564/669|188/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.654C>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.654C>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.564C>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.564C>A||||||,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1C>A|||||1461|,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|2/3|n.134C>A||||||
22	50512758	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|8/12|c.601G>A|p.Val201Ile|1208/3933|601/1134|201/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|8/12|c.601G>A|p.Val201Ile|876/3601|601/1134|201/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|7/11|c.499G>A|p.Val167Ile|595/1656|499/1032|167/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|7/11|c.511G>A|p.Val171Ile|641/1594|511/1044|171/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|7/11|c.364G>A|p.Val122Ile|488/1336|364/897|122/298||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|6/10|c.445G>A|p.Val149Ile|625/1287|445/978|149/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|7/8|c.511G>A|p.Val171Ile|600/758|511/669|171/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|7/12|c.601G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000395876|protein_coding|8/12|c.601G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|6/11|c.511G>A||||||,T|sequence_feature|LOW|MLC1|ENSG00000100427|transmembrane_region:Transmembrane_region|ENST00000431262|protein_coding|7/11|c.511G>A||||||,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>A|||||1514|,T|TF_binding_site_variant|MODIFIER|||CTCF|MA0139.1|||||||||,T|non_coding_exon_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript|2/3|n.81G>A||||||
22	50515843	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|6/12|c.512G>T|p.Cys171Phe|1119/3933|512/1134|171/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|6/12|c.512G>T|p.Cys171Phe|787/3601|512/1134|171/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|5/11|c.410G>T|p.Cys137Phe|506/1656|410/1032|137/343||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|5/11|c.422G>T|p.Cys141Phe|552/1594|422/1044|141/347||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|5/11|c.275G>T|p.Cys92Phe|399/1336|275/897|92/298||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|4/10|c.356G>T|p.Cys119Phe|536/1287|356/978|119/325||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|5/8|c.422G>T|p.Cys141Phe|511/758|422/669|141/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000483836|processed_transcript||n.-1G>T|||||4599|,A|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000470008|processed_transcript||n.-1G>T|||||2730|
22	50523237	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.95C>T|p.Ala32Val|702/3933|95/1134|32/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.95C>T|p.Ala32Val|370/3601|95/1134|32/377||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.95C>T|p.Ala32Val|191/1656|95/1032|32/343||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.95C>T|p.Ala32Val|225/1594|95/1044|32/347||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.95C>T|p.Ala32Val|275/1287|95/978|32/325||,A|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.95C>T|p.Ala32Val|184/758|95/669|32/222||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+547C>T||||||
22	50523238	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.94G>A|p.Ala32Thr|701/3933|94/1134|32/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.94G>A|p.Ala32Thr|369/3601|94/1134|32/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.94G>A|p.Ala32Thr|190/1656|94/1032|32/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.94G>A|p.Ala32Thr|224/1594|94/1044|32/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.94G>A|p.Ala32Thr|274/1287|94/978|32/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.94G>A|p.Ala32Thr|183/758|94/669|32/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+546G>A||||||
22	50523256	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.76G>A|p.Ala26Thr|683/3933|76/1134|26/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.76G>A|p.Ala26Thr|351/3601|76/1134|26/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.76G>A|p.Ala26Thr|172/1656|76/1032|26/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.76G>A|p.Ala26Thr|206/1594|76/1044|26/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.76G>A|p.Ala26Thr|256/1287|76/978|26/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.76G>A|p.Ala26Thr|165/758|76/669|26/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+528G>A||||||
22	50523267	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.65G>A|p.Arg22Gln|672/3933|65/1134|22/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.65G>A|p.Arg22Gln|340/3601|65/1134|22/377||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.65G>A|p.Arg22Gln|161/1656|65/1032|22/343||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.65G>A|p.Arg22Gln|195/1594|65/1044|22/347||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.65G>A|p.Arg22Gln|245/1287|65/978|22/325||,T|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.65G>A|p.Arg22Gln|154/758|65/669|22/222||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+517G>A||||||
22	50523297	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding|2/12|c.35A>C|p.Tyr12Ser|642/3933|35/1134|12/377||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding|2/12|c.35A>C|p.Tyr12Ser|310/3601|35/1134|12/377||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding|2/11|c.35A>C|p.Tyr12Ser|131/1656|35/1032|12/343||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding|2/11|c.35A>C|p.Tyr12Ser|165/1594|35/1044|12/347||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding|2/10|c.35A>C|p.Tyr12Ser|215/1287|35/978|12/325||,G|missense_variant|MODERATE|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding|2/8|c.35A>C|p.Tyr12Ser|124/758|35/669|12/222||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding|1/10|c.-59+487A>C||||||
22	50528569	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|1/27|c.52A>T|p.Thr18Ser|135/3960|52/3636|18/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|2/28|c.52A>T|p.Thr18Ser|136/3889|52/3636|18/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|1/26|c.52A>T|p.Thr18Ser|76/3763|52/3498|18/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|1/22|c.-2655A>T|||||59554|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000311597|protein_coding||c.-608T>A|||||4238|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000395876|protein_coding||c.-276T>A|||||4786|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000538737|protein_coding||c.-97T>A|||||4749|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000431262|protein_coding||c.-131T>A|||||4715|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000535444|protein_coding||c.-125T>A|||||4720|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000450140|protein_coding||c.-181T>A|||||4881|,T|upstream_gene_variant|MODIFIER|MLC1|ENSG00000100427|transcript|ENST00000442311|protein_coding||c.-90T>A|||||4756|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.-1A>T|||||116|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding||c.-221A>T|||||116|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|1/4|n.52A>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|1/4|n.52A>T||||||
22	50530501	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/27|c.169A>T|p.Met57Leu|252/3960|169/3636|57/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/28|c.169A>T|p.Met57Leu|253/3889|169/3636|57/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/26|c.169A>T|p.Met57Leu|193/3763|169/3498|57/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/26|c.109A>T|p.Met37Leu|329/3941|109/3498|37/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2538A>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2538A>T|||||57622|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1275A>T|||||1813|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*325A>T|||||1813|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1275A>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*325A>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/4|n.214A>T||||||
22	50530564	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/27|c.232A>G|p.Ile78Val|315/3960|232/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/28|c.232A>G|p.Ile78Val|316/3889|232/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/26|c.232A>G|p.Ile78Val|256/3763|232/3498|78/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/26|c.172A>G|p.Ile58Val|392/3941|172/3498|58/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2475A>G|||||57559|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1338A>G|||||1876|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*388A>G|||||1876|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1338A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*388A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/4|n.277A>G||||||
22	50530566	.	T	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|2/27|c.234T>G|p.Ile78Met|317/3960|234/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|3/28|c.234T>G|p.Ile78Met|318/3889|234/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|2/26|c.234T>G|p.Ile78Met|258/3763|234/3498|78/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|2/26|c.174T>G|p.Ile58Met|394/3941|174/3498|58/1165||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2473T>G||||||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|2/22|c.-2473T>G|||||57557|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1340T>G|||||1878|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*390T>G|||||1878|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|2/4|n.*1340T>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|2/4|n.*390T>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|2/4|n.279T>G||||||
22	50537888	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.299A>G|p.Asp100Gly|382/3960|299/3636|100/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.299A>G|p.Asp100Gly|383/3889|299/3636|100/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.299A>G|p.Asp100Gly|323/3763|299/3498|100/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.239A>G|p.Asp80Gly|459/3941|239/3498|80/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2408A>G|||||50235|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1405A>G|||||9200|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*455A>G|||||9200|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1405A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*455A>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.344A>G||||||
22	50537957	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.368G>C|p.Cys123Ser|451/3960|368/3636|123/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.368G>C|p.Cys123Ser|452/3889|368/3636|123/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.368G>C|p.Cys123Ser|392/3763|368/3498|123/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.308G>C|p.Cys103Ser|528/3941|308/3498|103/1165||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2339G>C||||||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2339G>C|||||50166|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1474G>C|||||9269|,C|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*524G>C|||||9269|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1474G>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*524G>C||||||,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.413G>C||||||
22	50537980	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.391G>A|p.Ala131Thr|474/3960|391/3636|131/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.391G>A|p.Ala131Thr|475/3889|391/3636|131/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.391G>A|p.Ala131Thr|415/3763|391/3498|131/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.331G>A|p.Ala111Thr|551/3941|331/3498|111/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2316G>A|||||50143|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1497G>A|||||9292|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*547G>A|||||9292|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1497G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*547G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.436G>A||||||
22	50538028	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|3/27|c.439G>A|p.Glu147Lys|522/3960|439/3636|147/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|4/28|c.439G>A|p.Glu147Lys|523/3889|439/3636|147/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|3/26|c.439G>A|p.Glu147Lys|463/3763|439/3498|147/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|3/26|c.379G>A|p.Glu127Lys|599/3941|379/3498|127/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|3/22|c.-2268G>A|||||50095|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1545G>A|||||9340|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*595G>A|||||9340|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|3/4|n.*1545G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|3/4|n.*595G>A||||||,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|3/4|n.484G>A||||||
22	50546612	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.490C>T|p.Arg164Trp|573/3960|490/3636|164/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.490C>T|p.Arg164Trp|574/3889|490/3636|164/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.490C>T|p.Arg164Trp|514/3763|490/3498|164/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.430C>T|p.Arg144Trp|650/3941|430/3498|144/1165||,T|splice_region_variant&non_coding_exon_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript|4/4|n.535C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2217C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2217C>T|||||41511|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1596C>T|||||17924|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*646C>T|||||17924|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1596C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*646C>T||||||
22	50546622	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.500C>T|p.Thr167Met|583/3960|500/3636|167/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.500C>T|p.Thr167Met|584/3889|500/3636|167/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.500C>T|p.Thr167Met|524/3763|500/3498|167/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.440C>T|p.Thr147Met|660/3941|440/3498|147/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2207C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2207C>T|||||41501|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1606C>T|||||17934|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*656C>T|||||17934|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||9|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1606C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*656C>T||||||
22	50546637	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.515C>G|p.Ala172Gly|598/3960|515/3636|172/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.515C>G|p.Ala172Gly|599/3889|515/3636|172/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.515C>G|p.Ala172Gly|539/3763|515/3498|172/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.455C>G|p.Ala152Gly|675/3941|455/3498|152/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2192C>G|||||41486|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1621C>G|||||17949|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*671C>G|||||17949|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>G|||||24|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1621C>G||||||,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*671C>G||||||
22	50546666	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|4/27|c.544C>T|p.Arg182Cys|627/3960|544/3636|182/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|5/28|c.544C>T|p.Arg182Cys|628/3889|544/3636|182/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|4/26|c.544C>T|p.Arg182Cys|568/3763|544/3498|182/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|4/26|c.484C>T|p.Arg162Cys|704/3941|484/3498|162/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|4/22|c.-2163C>T|||||41457|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1650C>T|||||17978|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*700C>T|||||17978|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||53|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay|4/4|n.*1650C>T||||||,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay|4/4|n.*700C>T||||||
22	50547101	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|5/27|c.571C>T|p.Leu191Phe|654/3960|571/3636|191/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|6/28|c.571C>T|p.Leu191Phe|655/3889|571/3636|191/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|5/26|c.571C>T|p.Leu191Phe|595/3763|571/3498|191/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|5/26|c.511C>T|p.Leu171Phe|731/3941|511/3498|171/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|5/22|c.-2136C>T|||||41022|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000419054|nonsense_mediated_decay||n.*215C>T|||||297|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395854|nonsense_mediated_decay||n.*206C>T|||||297|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000475190|processed_transcript||n.*536C>T|||||488|
22	50553013	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/27|c.1088C>T|p.Ser363Leu|1171/3960|1088/3636|363/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/28|c.1088C>T|p.Ser363Leu|1172/3889|1088/3636|363/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/26|c.1088C>T|p.Ser363Leu|1112/3763|1088/3498|363/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/26|c.1028C>T|p.Ser343Leu|1248/3941|1028/3498|343/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/22|c.-1619C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/22|c.-1619C>T|||||35110|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/7|n.125C>T||||||
22	50553033	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|7/27|c.1108A>G|p.Asn370Asp|1191/3960|1108/3636|370/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|8/28|c.1108A>G|p.Asn370Asp|1192/3889|1108/3636|370/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|7/26|c.1108A>G|p.Asn370Asp|1132/3763|1108/3498|370/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|7/26|c.1048A>G|p.Asn350Asp|1268/3941|1048/3498|350/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|7/22|c.-1599A>G|||||35090|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|1/7|n.145A>G||||||
22	50553610	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|8/27|c.1194G>C|p.Glu398Asp|1277/3960|1194/3636|398/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|9/28|c.1194G>C|p.Glu398Asp|1278/3889|1194/3636|398/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|8/26|c.1194G>C|p.Glu398Asp|1218/3763|1194/3498|398/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|8/26|c.1134G>C|p.Glu378Asp|1354/3941|1134/3498|378/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|8/22|c.-1513G>C|||||34513|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|2/7|n.231G>C||||||
22	50553645	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|8/27|c.1229A>G|p.Lys410Arg|1312/3960|1229/3636|410/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|9/28|c.1229A>G|p.Lys410Arg|1313/3889|1229/3636|410/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|8/26|c.1229A>G|p.Lys410Arg|1253/3763|1229/3498|410/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|8/26|c.1169A>G|p.Lys390Arg|1389/3941|1169/3498|390/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|8/22|c.-1478A>G|||||34478|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|2/7|n.266A>G||||||
22	50555686	.	A	C	.	.	ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1360A>C|p.Ile454Leu|1443/3960|1360/3636|454/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1360A>C|p.Ile454Leu|1444/3889|1360/3636|454/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1360A>C|p.Ile454Leu|1384/3763|1360/3498|454/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1300A>C|p.Ile434Leu|1520/3941|1300/3498|434/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1347A>C|||||32437|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.397A>C||||||
22	50555696	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1370G>A|p.Arg457His|1453/3960|1370/3636|457/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1370G>A|p.Arg457His|1454/3889|1370/3636|457/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1370G>A|p.Arg457His|1394/3763|1370/3498|457/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1310G>A|p.Arg437His|1530/3941|1310/3498|437/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1337G>A|||||32427|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.407G>A||||||
22	50555704	.	T	C	.	.	ANN=C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1378T>C|p.Phe460Leu|1461/3960|1378/3636|460/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1378T>C|p.Phe460Leu|1462/3889|1378/3636|460/1211||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1378T>C|p.Phe460Leu|1402/3763|1378/3498|460/1165||,C|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1318T>C|p.Phe440Leu|1538/3941|1318/3498|440/1165||,C|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1329T>C|||||32419|,C|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.415T>C||||||
22	50555746	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1420G>A|p.Ala474Thr|1503/3960|1420/3636|474/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1420G>A|p.Ala474Thr|1504/3889|1420/3636|474/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1420G>A|p.Ala474Thr|1444/3763|1420/3498|474/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1360G>A|p.Ala454Thr|1580/3941|1360/3498|454/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1287G>A|||||32377|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.457G>A||||||
22	50555777	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|9/27|c.1451A>G|p.Lys484Arg|1534/3960|1451/3636|484/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|10/28|c.1451A>G|p.Lys484Arg|1535/3889|1451/3636|484/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|9/26|c.1451A>G|p.Lys484Arg|1475/3763|1451/3498|484/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|9/26|c.1391A>G|p.Lys464Arg|1611/3941|1391/3498|464/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|9/22|c.-1256A>G|||||32346|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|3/7|n.488A>G||||||
22	50563972	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|11/27|c.1721C>T|p.Ala574Val|1804/3960|1721/3636|574/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|12/28|c.1721C>T|p.Ala574Val|1805/3889|1721/3636|574/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|11/26|c.1721C>T|p.Ala574Val|1745/3763|1721/3498|574/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|11/26|c.1661C>T|p.Ala554Val|1881/3941|1661/3498|554/1165||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|11/22|c.-986C>T|||||24151|,T|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/7|n.*145C>T|||||145|,T|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/7|n.*145C>T||||||
22	50566849	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|13/27|c.1823A>G|p.His608Arg|1906/3960|1823/3636|608/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|14/28|c.1823A>G|p.His608Arg|1907/3889|1823/3636|608/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|13/26|c.1823A>G|p.His608Arg|1847/3763|1823/3498|608/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|13/26|c.1763A>G|p.His588Arg|1983/3941|1763/3498|588/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|13/22|c.-884A>G|||||21274|,G|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|4/6|n.*171+2851A>G||||||
22	50572473	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|14/27|c.1948G>A|p.Val650Ile|2031/3960|1948/3636|650/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|15/28|c.1948G>A|p.Val650Ile|2032/3889|1948/3636|650/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|14/26|c.1948G>A|p.Val650Ile|1972/3763|1948/3498|650/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|14/26|c.1888G>A|p.Val630Ile|2108/3941|1888/3498|630/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|14/22|c.-759G>A|||||15650|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/7|n.*209G>A|||||8646|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|5/7|n.*209G>A||||||
22	50573036	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|15/27|c.2047A>G|p.Ser683Gly|2130/3960|2047/3636|683/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|16/28|c.2047A>G|p.Ser683Gly|2131/3889|2047/3636|683/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|15/26|c.2047A>G|p.Ser683Gly|2071/3763|2047/3498|683/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|15/26|c.1987A>G|p.Ser663Gly|2207/3941|1987/3498|663/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|15/22|c.-660A>G|||||15087|,G|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/7|n.*308A>G|||||9209|,G|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|6/7|n.*308A>G||||||
22	50580542	.	T	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|16/27|c.2103T>A|p.His701Gln|2186/3960|2103/3636|701/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|17/28|c.2103T>A|p.His701Gln|2187/3889|2103/3636|701/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|16/26|c.2103T>A|p.His701Gln|2127/3763|2103/3498|701/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|16/26|c.2043T>A|p.His681Gln|2263/3941|2043/3498|681/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|16/22|c.-604T>A|||||7581|,A|3_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|7/7|n.*364T>A|||||16715|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178T>A|||||4852|,A|non_coding_exon_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay|7/7|n.*364T>A||||||
22	50582583	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2416G>A|p.Ala806Thr|2499/3960|2416/3636|806/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2416G>A|p.Ala806Thr|2500/3889|2416/3636|806/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2416G>A|p.Ala806Thr|2440/3763|2416/3498|806/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2356G>A|p.Ala786Thr|2576/3941|2356/3498|786/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-291G>A|||||5540|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||2811|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||1968|
22	50582626	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2459A>G|p.Gln820Arg|2542/3960|2459/3636|820/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2459A>G|p.Gln820Arg|2543/3889|2459/3636|820/1211||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2459A>G|p.Gln820Arg|2483/3763|2459/3498|820/1165||,G|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2399A>G|p.Gln800Arg|2619/3941|2399/3498|800/1165||,G|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-248A>G|||||5497|,G|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178A>G|||||2768|,G|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500A>G|||||2011|
22	50582643	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|18/27|c.2476C>T|p.Arg826Trp|2559/3960|2476/3636|826/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|19/28|c.2476C>T|p.Arg826Trp|2560/3889|2476/3636|826/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|18/26|c.2476C>T|p.Arg826Trp|2500/3763|2476/3498|826/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|18/26|c.2416C>T|p.Arg806Trp|2636/3941|2416/3498|806/1165||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-231C>T||||||,T|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|18/22|c.-231C>T|||||5480|,T|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178C>T|||||2751|,T|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500C>T|||||2028|
22	50584130	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|19/27|c.2518G>A|p.Ala840Thr|2601/3960|2518/3636|840/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|20/28|c.2518G>A|p.Ala840Thr|2602/3889|2518/3636|840/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|19/26|c.2518G>A|p.Ala840Thr|2542/3763|2518/3498|840/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|19/26|c.2458G>A|p.Ala820Thr|2678/3941|2458/3498|820/1165||,A|5_prime_UTR_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|19/22|c.-189G>A|||||3993|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding||c.-178G>A|||||1264|,A|upstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.-306G>A|||||3688|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000434497|nonsense_mediated_decay||n.*500G>A|||||3515|
22	50589174	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|21/27|c.2738C>T|p.Ala913Val|2821/3960|2738/3636|913/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|22/28|c.2738C>T|p.Ala913Val|2822/3889|2738/3636|913/1211||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|21/26|c.2738C>T|p.Ala913Val|2762/3763|2738/3498|913/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|21/26|c.2678C>T|p.Ala893Val|2898/3941|2678/3498|893/1165||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|3/9|c.119C>T|p.Ala40Val|296/1422|119/1017|40/338||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|20/21|c.21+1031C>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|1/2|c.21+1031C>T||||||
22	50591521	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|22/27|c.2940G>A|p.Met980Ile|3023/3960|2940/3636|980/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|23/28|c.2940G>A|p.Met980Ile|3024/3889|2940/3636|980/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|22/26|c.2940G>A|p.Met980Ile|2964/3763|2940/3498|980/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|21/22|c.69G>A|p.Met23Ile|2777/3086|69/378|23/125||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|22/26|c.2880G>A|p.Met960Ile|3100/3941|2880/3498|960/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|4/9|c.321G>A|p.Met107Ile|498/1422|321/1017|107/338||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|2/3|c.69G>A|p.Met23Ile|374/1701|69/378|23/125||
22	50596612	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|23/27|c.3193G>A|p.Val1065Ile|3276/3960|3193/3636|1065/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|24/28|c.3193G>A|p.Val1065Ile|3277/3889|3193/3636|1065/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|23/26|c.3193G>A|p.Val1065Ile|3217/3763|3193/3498|1065/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|22/22|c.322G>A|p.Val108Ile|3030/3086|322/378|108/125||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|23/26|c.3133G>A|p.Val1045Ile|3353/3941|3133/3498|1045/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|5/9|c.574G>A|p.Val192Ile|751/1422|574/1017|192/338||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|3/3|c.322G>A|p.Val108Ile|627/1701|322/378|108/125||
22	50596651	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|22/22|c.361G>T|p.Ala121Ser|3069/3086|361/378|121/125||,T|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|3/3|c.361G>T|p.Ala121Ser|666/1701|361/378|121/125||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|23/26|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|24/27|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|23/25|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|23/25|c.3156+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|5/8|c.597+16G>T||||||
22	50596655	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding|22/22|c.365G>A|p.Arg122His|3073/3086|365/378|122/125||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding|3/3|c.365G>A|p.Arg122His|670/1701|365/378|122/125||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|23/26|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|24/27|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|23/25|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|23/25|c.3156+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|5/8|c.597+20G>A||||||
22	50599466	.	C	A	.	.	ANN=A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000262794|protein_coding|26/27|c.3536C>A|p.Ala1179Glu|3619/3960|3536/3636|1179/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000545383|protein_coding|27/28|c.3536C>A|p.Ala1179Glu|3620/3889|3536/3636|1179/1211||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395858|protein_coding|25/26|c.3398C>A|p.Ala1133Glu|3422/3763|3398/3498|1133/1165||,A|missense_variant|MODERATE|MOV10L1|ENSG00000073146|transcript|ENST00000395852|protein_coding|8/9|c.917C>A|p.Ala306Glu|1094/1422|917/1017|306/338||,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000395843|protein_coding||c.*3086C>A|||||2798|,A|downstream_gene_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000354853|protein_coding||c.*683C>A|||||1780|,A|intron_variant|MODIFIER|MOV10L1|ENSG00000073146|transcript|ENST00000540615|protein_coding|25/25|c.3402+212C>A||||||
22	50616322	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1181C>A|p.Thr394Asn|1181/3051|1181/2034|394/677||,A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1181C>A|p.Thr394Asn|1181/2964|1181/1932|394/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1181C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1181C>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*968C>A|||||2424|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*968C>A||||||
22	50616646	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|2/3|c.1505C>A|p.Pro502Gln|1505/3051|1505/2034|502/677||,A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|2/4|c.1505C>A|p.Pro502Gln|1505/2964|1505/1932|502/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1505C>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1505C>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1292C>A|||||2748|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|3/5|n.*1292C>A||||||
22	50617443	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1771G>A|p.Val591Ile|1771/3051|1771/2034|591/677||,A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/4|c.1771G>A|p.Val591Ile|1771/2964|1771/1932|591/643||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1771G>A||||||,A|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1771G>A||||||,A|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/5|n.*1558G>A|||||3545|,A|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/5|n.*1558G>A||||||
22	50617599	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1927C>T|p.Arg643Cys|1927/3051|1927/2034|643/677||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|2/3|c.1927C>T||||||,T|sequence_feature|LOW|PANX2|ENSG00000073150|topological_domain:Cytoplasmic|ENST00000395842|protein_coding|3/3|c.1927C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+35C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+35C>T||||||
22	50617606	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1934C>T|p.Pro645Leu|1934/3051|1934/2034|645/677||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1892+42C>T||||||,T|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1679+42C>T||||||
22	50617618	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1946G>A|p.Gly649Glu|1946/3051|1946/2034|649/677||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|3/3|c.1893-32G>A||||||,A|intron_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|4/4|n.*1680-32G>A||||||
22	50617653	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PANX2|ENSG00000073150|transcript|ENST00000395842|protein_coding|3/3|c.1981C>T|p.Leu661Phe|1981/3051|1981/2034|661/677||,T|synonymous_variant|LOW|PANX2|ENSG00000073150|transcript|ENST00000159647|protein_coding|4/4|c.1896C>T|p.Ser632Ser|1896/2964|1896/1932|632/643||,T|3_prime_UTR_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1683C>T|||||3755|,T|non_coding_exon_variant|MODIFIER|PANX2|ENSG00000073150|transcript|ENST00000402472|nonsense_mediated_decay|5/5|n.*1683C>T||||||
22	50632820	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.164G>A|p.Arg55His|211/1628|164/1140|55/379||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.164G>A|p.Arg55His|260/2272|164/1131|55/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.164G>A|p.Arg55His|283/2329|164/1131|55/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.164G>A|p.Arg55His|249/2172|164/1131|55/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||1989|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||2502|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4699|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.282G>A||||||
22	50632841	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|3/10|c.185G>A|p.Arg62His|232/1628|185/1140|62/379||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|4/10|c.185G>A|p.Arg62His|281/2272|185/1131|62/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|4/10|c.185G>A|p.Arg62His|304/2329|185/1131|62/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|4/10|c.185G>A|p.Arg62His|270/2172|185/1131|62/376||,A|upstream_gene_variant|MODIFIER|RP3-402G11.25|ENSG00000273188|transcript|ENST00000607943|antisense||n.-1C>T|||||2010|,A|upstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.-1G>A|||||2481|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||4678|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|4/9|n.303G>A||||||
22	50636391	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding|7/10|c.811G>A|p.Ala271Thr|858/1628|811/1140|271/379||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding|8/10|c.811G>A|p.Ala271Thr|907/2272|811/1131|271/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding|8/10|c.811G>A|p.Ala271Thr|930/2329|811/1131|271/376||,A|missense_variant|MODERATE|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding|8/10|c.811G>A|p.Ala271Thr|896/2172|811/1131|271/376||,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.-59G>A|||||3017|,A|downstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.*711C>T|||||1128|,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron|8/9|n.929G>A||||||,A|non_coding_exon_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron|1/2|n.1070G>A||||||
22	50639473	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.8T>C|p.Val3Ala|66/2315|8/2010|3/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1A>G|||||497|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187T>C|||||1475|,C|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478A>G|||||4541|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227T>C|||||1480|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250T>C|||||1446|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404T>C|||||1449|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216T>C|||||1569|,C|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661T>C|||||2333|
22	50639965	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|1/9|c.500C>A|p.Thr167Asn|558/2315|500/2010|167/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.26|ENSG00000273253|transcript|ENST00000608025|antisense||n.-1G>T|||||989|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1C>A|||||4906|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395829|protein_coding||c.*1187C>A|||||1967|,A|downstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.*478G>T|||||4049|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000380909|protein_coding||c.*1227C>A|||||1972|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000303434|protein_coding||c.*1250C>A|||||1938|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000463233|retained_intron||n.*2404C>A|||||1941|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000395827|protein_coding||c.*1216C>A|||||2061|,A|downstream_gene_variant|MODIFIER|TRABD|ENSG00000170638|transcript|ENST00000472677|retained_intron||n.*1661C>A|||||2825|
22	50644807	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/9|c.616A>G|p.Met206Val|674/2315|616/2010|206/669||,G|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1T>C|||||316|,G|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1A>G|||||64|,G|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640T>C|||||2083|
22	50644858	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|2/9|c.667G>A|p.Glu223Lys|725/2315|667/2010|223/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||367|,A|upstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.-1G>A|||||13|,A|downstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.*640C>T|||||2032|
22	50647038	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.832G>A|p.Asp278Asn|890/2315|832/2010|278/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2547|,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.492C>T||||||,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.201G>A||||||
22	50647086	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.880G>A|p.Glu294Lys|938/2315|880/2010|294/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2595|,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.444C>T||||||,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.249G>A||||||
22	50647098	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|3/9|c.892G>A|p.Ala298Thr|950/2315|892/2010|298/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||2607|,A|non_coding_exon_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense|2/2|n.432C>T||||||,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|2/8|n.261G>A||||||
22	50648617	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|4/9|c.947G>A|p.Arg316Gln|1005/2315|947/2010|316/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4126|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||646|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|3/8|n.316G>A||||||
22	50649103	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1114C>T|p.Arg372Cys|1172/2315|1114/2010|372/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1G>A|||||4612|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1G>A|||||1132|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.483C>T||||||
22	50649104	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1115G>A|p.Arg372His|1173/2315|1115/2010|372/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4613|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||1133|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.484G>A||||||
22	50649120	.	G	T	.	.	ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1131G>T|p.Lys377Asn|1189/2315|1131/2010|377/669||,T|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>A|||||4629|,T|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>A|||||1149|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.500G>T||||||
22	50649211	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1222G>A|p.Glu408Lys|1280/2315|1222/2010|408/669||,A|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>T|||||4720|,A|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>T|||||1240|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.591G>A||||||
22	50649223	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|5/9|c.1234G>C|p.Ala412Pro|1292/2315|1234/2010|412/669||,C|upstream_gene_variant|MODIFIER|RP3-402G11.27|ENSG00000272836|transcript|ENST00000610050|antisense||n.-1C>G|||||4732|,C|upstream_gene_variant|MODIFIER|RP3-402G11.28|ENSG00000273137|transcript|ENST00000608016|antisense||n.-1C>G|||||1252|,C|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|4/8|n.603G>C||||||
22	50655468	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1756G>A|p.Val586Met|1814/2315|1756/2010|586/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||650|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||650|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||655|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||655|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||656|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4721|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1125G>A||||||
22	50655528	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1816G>A|p.Glu606Lys|1874/2315|1816/2010|606/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||590|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||590|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||595|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||595|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||596|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4661|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1185G>A||||||
22	50655543	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|8/9|c.1831G>A|p.Gly611Arg|1889/2315|1831/2010|611/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||575|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||575|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||580|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||580|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||581|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4646|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|7/8|n.1200G>A||||||
22	50655676	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1888G>A|p.Glu630Lys|1946/2315|1888/2010|630/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||442|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||442|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||447|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||447|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||448|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4513|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1257G>A||||||
22	50655700	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1912G>A|p.Glu638Lys|1970/2315|1912/2010|638/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||418|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||418|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||423|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||423|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||424|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4489|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1281G>A||||||
22	50655722	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1934C>T|p.Ala645Val|1992/2315|1934/2010|645/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||396|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||396|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||401|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||401|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||402|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4467|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1303C>T||||||
22	50655736	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1948C>T|p.Arg650Cys|2006/2315|1948/2010|650/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||382|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||382|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||387|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||387|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||388|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4453|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1317C>T||||||
22	50655758	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1970C>T|p.Pro657Leu|2028/2315|1970/2010|657/669||,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565G>A|||||360|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274G>A|||||360|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467G>A|||||365|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044G>A|||||365|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975G>A|||||366|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||4431|,T|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1339C>T||||||
22	50655781	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding|9/9|c.1993G>A|p.Val665Met|2051/2315|1993/2010|665/669||,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.*5565C>T|||||337|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.*5274C>T|||||337|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.*1467C>T|||||342|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.*4044C>T|||||342|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.*4975C>T|||||343|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||4408|,A|non_coding_exon_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript|8/8|n.1362G>A||||||
22	50656247	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|25/25|c.5378A>G|p.Lys1793Arg|5483/5612|5378/5460|1793/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|10/10|c.1385A>G|p.Lys462Arg|1385/1509|1385/1467|462/488||,C|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|25/25|c.*955A>G|||||1531|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||202|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||202|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||3942|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|23/23|n.5145A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|16/16|n.3920A>G||||||
22	50656428	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5287C>T|p.Arg1763Trp|5392/5612|5287/5460|1763/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1294C>T|p.Arg432Trp|1294/1509|1294/1467|432/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*864C>T|||||1350|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||383|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||383|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3761|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4988|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5054C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3829C>T||||||
22	50656430	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5285C>T|p.Pro1762Leu|5390/5612|5285/5460|1762/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1292C>T|p.Pro431Leu|1292/1509|1292/1467|431/488||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*862C>T|||||1348|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||385|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||385|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3759|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4986|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5052C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3827C>T||||||
22	50656461	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|24/25|c.5254A>G|p.Ile1752Val|5359/5612|5254/5460|1752/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|9/10|c.1261A>G|p.Ile421Val|1261/1509|1261/1467|421/488||,C|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|24/25|c.*831A>G|||||1317|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||416|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||416|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||3728|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||4955|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.5021A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|15/16|n.3796A>G||||||
22	50656647	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1165C>T|p.Arg389Cys|1165/1509|1165/1467|389/488||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5139C>T|p.His1713His|5244/5612|5139/5460|1713/1819||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*716C>T|||||1131|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||602|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||602|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3542|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4769|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4835C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3681C>T||||||
22	50656650	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1162G>A|p.Ala388Thr|1162/1509|1162/1467|388/488||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5136G>A|p.Ala1712Ala|5241/5612|5136/5460|1712/1819||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*713G>A|||||1128|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||605|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||605|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||3539|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4766|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4832G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3678G>A||||||
22	50656734	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1078C>T|p.Arg360Cys|1078/1509|1078/1467|360/488||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5052C>T|p.Ile1684Ile|5157/5612|5052/5460|1684/1819||,A|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*629C>T|||||1044|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||689|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||689|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||3455|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||4682|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4748C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3594C>T||||||
22	50656736	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|23/25|c.5050A>G|p.Ile1684Val|5155/5612|5050/5460|1684/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|8/10|c.1076A>G|p.His359Arg|1076/1509|1076/1467|359/488||,C|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|23/25|c.*627A>G|||||1042|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||691|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||691|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||3453|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||4680|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|22/23|n.4746A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|14/16|n.3592A>G||||||
22	50657010	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|22/25|c.4861G>C|p.Val1621Leu|4966/5612|4861/5460|1621/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|7/10|c.919G>C|p.Val307Leu|919/1509|919/1467|307/488||,G|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|22/25|c.*438G>C|||||768|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||965|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||965|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||3179|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||4406|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|21/23|n.4557G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|13/16|n.3403G>C||||||
22	50657206	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|21/25|c.4747G>A|p.Ala1583Thr|4852/5612|4747/5460|1583/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|6/10|c.805G>A|p.Ala269Thr|805/1509|805/1467|269/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|21/25|c.*324G>A|||||572|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1161|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1161|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2983|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||4210|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|20/23|n.4443G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|12/16|n.3289G>A||||||
22	50657610	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|20/25|c.4513G>A|p.Asp1505Asn|4618/5612|4513/5460|1505/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|5/10|c.571G>A|p.Asp191Asn|571/1509|571/1467|191/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|20/25|c.*90G>A|||||168|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1565|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1565|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2579|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3806|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|19/23|n.4209G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|11/16|n.3055G>A||||||
22	50657616	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|20/25|c.4507G>A|p.Ala1503Thr|4612/5612|4507/5460|1503/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|5/10|c.565G>A|p.Ala189Thr|565/1509|565/1467|189/488||,T|3_prime_UTR_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|20/25|c.*84G>A|||||162|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||1571|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||1571|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2573|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3800|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|19/23|n.4203G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|11/16|n.3049G>A||||||
22	50657803	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/25|c.4457C>T|p.Pro1486Leu|4950/6053|4457/4482|1486/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/25|c.4398C>T|p.Ala1466Ala|4503/5612|4398/5460|1466/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/10|c.456C>T|p.Ala152Ala|456/1509|456/1467|152/488||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1758|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1758|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2386|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3613|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.4094C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/16|n.2940C>T||||||
22	50657875	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|19/25|c.4385C>T|p.Pro1462Leu|4878/6053|4385/4482|1462/1493||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|19/25|c.4326C>T|p.Pro1442Pro|4431/5612|4326/5460|1442/1819||,A|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|4/10|c.384C>T|p.Pro128Pro|384/1509|384/1467|128/488||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||1830|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||1830|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2314|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3541|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.4022C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|10/16|n.2868C>T||||||
22	50658099	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4289G>A|p.Arg1430Gln|4394/5612|4289/5460|1430/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.347G>A|p.Arg116Gln|347/1509|347/1467|116/488||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4348G>A|p.Gly1450Ser|4841/6053|4348/4482|1450/1493||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2054|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2054|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2090|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3317|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3798G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2831G>A||||||
22	50658161	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4286G>A|p.Arg1429Gln|4779/6053|4286/4482|1429/1493||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4227G>A|p.Ala1409Ala|4332/5612|4227/5460|1409/1819||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.285G>A|p.Ala95Ala|285/1509|285/1467|95/488||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2116|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2116|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||2028|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||3255|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3736G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2769G>A||||||
22	50658165	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4223C>T|p.Ala1408Val|4328/5612|4223/5460|1408/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.281C>T|p.Ala94Val|281/1509|281/1467|94/488||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4282C>T|p.Arg1428Trp|4775/6053|4282/4482|1428/1493||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||2120|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||2120|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||2024|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||3251|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3732C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2765C>T||||||
22	50658170	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4277A>G|p.His1426Arg|4770/6053|4277/4482|1426/1493||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4218A>G|p.Ala1406Ala|4323/5612|4218/5460|1406/1819||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.276A>G|p.Ala92Ala|276/1509|276/1467|92/488||,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||2125|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||2125|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||2019|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||3246|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3727A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2760A>G||||||
22	50658203	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|18/25|c.4185G>T|p.Gln1395His|4290/5612|4185/5460|1395/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|3/10|c.243G>T|p.Gln81His|243/1509|243/1467|81/488||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|18/25|c.4244G>T|p.Arg1415Ile|4737/6053|4244/4482|1415/1493||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>A|||||2158|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>A|||||2158|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>T|||||1986|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>T|||||3213|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|18/23|n.3694G>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|9/16|n.2727G>T||||||
22	50658424	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/25|c.4129A>G|p.Thr1377Ala|4234/5612|4129/5460|1377/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/10|c.187A>G|p.Thr63Ala|187/1509|187/1467|63/488||,C|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/25|c.4188A>G|p.Thr1396Thr|4681/6053|4188/4482|1396/1493||,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||2379|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||2379|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>G|||||1765|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||2992|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/23|n.3638A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2671A>G||||||
22	50658430	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|17/25|c.4123G>A|p.Gly1375Arg|4228/5612|4123/5460|1375/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|2/10|c.181G>A|p.Gly61Arg|181/1509|181/1467|61/488||,T|synonymous_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|17/25|c.4182G>A|p.Ala1394Ala|4675/6053|4182/4482|1394/1493||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2385|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2385|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1759|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2986|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|17/23|n.3632G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2665G>A||||||
22	50658686	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4102G>A|p.Glu1368Lys|4207/5612|4102/5460|1368/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.160G>A|p.Glu54Lys|160/1509|160/1467|54/488||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4102G>A|p.Glu1368Lys|4595/6053|4102/4482|1368/1493||,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||2641|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||2641|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1503|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2730|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-242G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2409G>A||||||
22	50658695	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4093G>C|p.Val1365Leu|4198/5612|4093/5460|1365/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.151G>C|p.Val51Leu|151/1509|151/1467|51/488||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4093G>C|p.Val1365Leu|4586/6053|4093/4482|1365/1493||,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||2650|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||2650|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||1494|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||2721|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-251G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2400G>C||||||
22	50658698	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.4090A>T|p.Ser1364Cys|4195/5612|4090/5460|1364/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding|1/10|c.148A>T|p.Ser50Cys|148/1509|148/1467|50/488||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.4090A>T|p.Ser1364Cys|4583/6053|4090/4482|1364/1493||,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>A|||||2653|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>A|||||2653|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612A>T|||||1491|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>T|||||2718|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-254A>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2397A>T||||||
22	50658847	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3941T>C|p.Val1314Ala|4046/5612|3941/5460|1314/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3941T>C|p.Val1314Ala|4434/6053|3941/4482|1314/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1T>C|||||2|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068A>G|||||2802|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626A>G|||||2802|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||1342|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733T>C|||||2569|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-403T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2248T>C||||||
22	50659033	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3755T>C|p.Leu1252Ser|3860/5612|3755/5460|1252/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3755T>C|p.Leu1252Ser|4248/6053|3755/4482|1252/1493||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:9|ENST00000248846|protein_coding|16/25|c.3755T>C||||||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3755T>C||||||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1T>C|||||188|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068A>G|||||2988|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626A>G|||||2988|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612T>C|||||1156|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733T>C|||||2383|,G|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3618-589T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2062T>C||||||
22	50659082	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3706C>T|p.Arg1236Trp|3811/5612|3706/5460|1236/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3706C>T|p.Arg1236Trp|4199/6053|3706/4482|1236/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3706C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:8|ENST00000248846|protein_coding|16/25|c.3706C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||237|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3037|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3037|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||1107|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||2334|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+622C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2013C>T||||||
22	50659094	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3694G>A|p.Val1232Met|3799/5612|3694/5460|1232/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3694G>A|p.Val1232Met|4187/6053|3694/4482|1232/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3694G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:8|ENST00000248846|protein_coding|16/25|c.3694G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||249|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3049|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3049|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||1095|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2322|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+610G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.2001G>A||||||
22	50659292	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3496G>A|p.Asp1166Asn|3601/5612|3496/5460|1166/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3496G>A|p.Asp1166Asn|3989/6053|3496/4482|1166/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3496G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:6|ENST00000248846|protein_coding|16/25|c.3496G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||447|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3247|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3247|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||897|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2124|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+412G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1803G>A||||||
22	50659298	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3490G>A|p.Val1164Met|3595/5612|3490/5460|1164/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3490G>A|p.Val1164Met|3983/6053|3490/4482|1164/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3490G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:6|ENST00000248846|protein_coding|16/25|c.3490G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||453|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3253|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3253|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||891|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||2118|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+406G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1797G>A||||||
22	50659481	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3307C>T|p.Arg1103Trp|3412/5612|3307/5460|1103/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3307C>T|p.Arg1103Trp|3800/6053|3307/4482|1103/1493||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3307C>T||||||,A|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:3|ENST00000248846|protein_coding|16/25|c.3307C>T||||||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||636|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||3436|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||3436|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||708|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1935|,A|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+223C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1614C>T||||||
22	50659595	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3193G>A|p.Glu1065Lys|3298/5612|3193/5460|1065/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3193G>A|p.Glu1065Lys|3686/6053|3193/4482|1065/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3193G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3193G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||750|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3550|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3550|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||594|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1821|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+109G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1500G>A||||||
22	50659598	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3190G>A|p.Gly1064Arg|3295/5612|3190/5460|1064/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3190G>A|p.Gly1064Arg|3683/6053|3190/4482|1064/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3190G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3190G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||753|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3553|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3553|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||591|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1818|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+106G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1497G>A||||||
22	50659613	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3175G>A|p.Ala1059Thr|3280/5612|3175/5460|1059/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3175G>A|p.Ala1059Thr|3668/6053|3175/4482|1059/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3175G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:2|ENST00000248846|protein_coding|16/25|c.3175G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||768|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3568|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3568|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||576|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1803|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+91G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1482G>A||||||
22	50659690	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3098G>A|p.Gly1033Asp|3203/5612|3098/5460|1033/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3098G>A|p.Gly1033Asp|3591/6053|3098/4482|1033/1493||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3098G>A||||||,T|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:1|ENST00000248846|protein_coding|16/25|c.3098G>A||||||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||845|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3645|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3645|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||499|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1726|,T|intron_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+14G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1405G>A||||||
22	50659696	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.3092G>C|p.Gly1031Ala|3197/5612|3092/5460|1031/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.3092G>C|p.Gly1031Ala|3585/6053|3092/4482|1031/1493||,G|splice_region_variant&intron_variant|LOW|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/22|n.3617+8G>C||||||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|region_of_interest:9_X_27_AA_tandem_repeats|ENST00000248846|protein_coding|16/25|c.3092G>C||||||,G|sequence_feature|LOW|TUBGCP6|ENSG00000128159|repeat:1|ENST00000248846|protein_coding|16/25|c.3092G>C||||||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||851|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||3651|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||3651|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||493|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1720|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1399G>C||||||
22	50659796	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2992G>A|p.Ala998Thr|3097/5612|2992/5460|998/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2992G>A|p.Ala998Thr|3485/6053|2992/4482|998/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>A|||||951|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>T|||||3751|,T|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>T|||||3751|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>A|||||393|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>A|||||1620|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3525G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1299G>A||||||
22	50659874	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2914G>C|p.Ala972Pro|3019/5612|2914/5460|972/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2914G>C|p.Ala972Pro|3407/6053|2914/4482|972/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||1029|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||3829|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||3829|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612G>C|||||315|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1542|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3447G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.1221G>C||||||
22	50660122	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2666C>T|p.Pro889Leu|2771/5612|2666/5460|889/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2666C>T|p.Pro889Leu|3159/6053|2666/4482|889/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1277|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4077|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4077|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||67|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1294|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3199C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.973C>T||||||
22	50660137	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2651C>T|p.Ala884Val|2756/5612|2651/5460|884/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2651C>T|p.Ala884Val|3144/6053|2651/4482|884/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1292|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4092|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4092|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||52|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1279|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3184C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.958C>T||||||
22	50660176	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2612C>T|p.Pro871Leu|2717/5612|2612/5460|871/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2612C>T|p.Pro871Leu|3105/6053|2612/4482|871/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1331|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4131|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4131|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.*612C>T|||||13|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1240|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4988|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3145C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.919C>T||||||
22	50660214	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2574G>C|p.Trp858Cys|2679/5612|2574/5460|858/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2574G>C|p.Trp858Cys|3067/6053|2574/4482|858/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1G>C|||||1369|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068C>G|||||4169|,G|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626C>G|||||4169|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733G>C|||||1202|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>C|||||4950|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3107G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.881G>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|6/6|n.587G>C||||||
22	50660296	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|16/25|c.2492C>T|p.Ser831Phe|2597/5612|2492/5460|831/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|16/25|c.2492C>T|p.Ser831Phe|2985/6053|2492/4482|831/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1451|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4251|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4251|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||1120|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4868|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|16/23|n.3025C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|8/16|n.799C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|6/6|n.505C>T||||||
22	50660498	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|15/25|c.2443C>T|p.Pro815Ser|2548/5612|2443/5460|815/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|15/25|c.2443C>T|p.Pro815Ser|2936/6053|2443/4482|815/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||1653|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4453|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4453|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||918|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4666|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|15/23|n.2976C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|7/16|n.750C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|5/6|n.456C>T||||||
22	50660896	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|14/25|c.2396A>G|p.Glu799Gly|2501/5612|2396/5460|799/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|14/25|c.2396A>G|p.Glu799Gly|2889/6053|2396/4482|799/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1A>G|||||2051|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068T>C|||||4851|,C|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626T>C|||||4851|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733A>G|||||520|,C|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830A>G|||||4268|WARNING_TRANSCRIPT_NO_START_CODON,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|14/23|n.2929A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|6/16|n.703A>G||||||,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|4/6|n.409A>G||||||
22	50660972	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|14/25|c.2320C>T|p.Arg774Trp|2425/5612|2320/5460|774/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|14/25|c.2320C>T|p.Arg774Trp|2813/6053|2320/4482|774/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||2127|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000380903|protein_coding||c.*2068G>A|||||4927|,A|downstream_gene_variant|MODIFIER|SELO|ENSG00000073169|transcript|ENST00000492092|processed_transcript||n.*1626G>A|||||4927|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.*1733C>T|||||444|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||4192|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|14/23|n.2853C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|6/16|n.627C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|4/6|n.333C>T||||||
22	50662984	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|11/25|c.2021C>T|p.Ala674Val|2126/5612|2021/5460|674/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|11/25|c.2021C>T|p.Ala674Val|2514/6053|2021/4482|674/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000425018|protein_coding||c.-1C>T|||||4139|,A|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830C>T|||||2180|WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|11/23|n.2554C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|3/16|n.328C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript|1/6|n.38C>T||||||,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|3/5|n.330C>T||||||
22	50664351	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|10/25|c.1855G>A|p.Val619Ile|1960/5612|1855/5460|619/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|10/25|c.1855G>A|p.Val619Ile|2348/6053|1855/4482|619/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1330|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||813|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|10/23|n.2388G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|2/16|n.162G>A||||||,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|2/5|n.164G>A||||||
22	50664612	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|9/25|c.1700T>C|p.Leu567Ser|1805/5612|1700/5460|567/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|9/25|c.1700T>C|p.Leu567Ser|2193/6053|1700/4482|567/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1T>C|||||1591|,G|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830T>C|||||552|WARNING_TRANSCRIPT_NO_START_CODON,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|9/23|n.2233T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript|1/16|n.7T>C||||||,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript|1/5|n.9T>C||||||
22	50664797	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|8/25|c.1612G>A|p.Asp538Asn|1717/5612|1612/5460|538/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|8/25|c.1612G>A|p.Asp538Asn|2105/6053|1612/4482|538/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||179|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||1776|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||177|,T|downstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.*830G>A|||||367|WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|8/23|n.2145G>A||||||
22	50666409	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|5/25|c.1339G>A|p.Val447Ile|1444/5612|1339/5460|447/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|5/25|c.1339G>A|p.Val447Ile|1832/6053|1339/4482|447/1493||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|4/6|c.568G>A|p.Val190Ile|570/830|568/828|190/275||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1G>A|||||1791|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1G>A|||||3388|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1G>A|||||1789|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|5/23|n.1872G>A||||||
22	50667930	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|4/25|c.1193C>T|p.Ser398Leu|1298/5612|1193/5460|398/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|4/25|c.1193C>T|p.Ser398Leu|1686/6053|1193/4482|398/1493||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|3/6|c.422C>T|p.Ser141Leu|424/830|422/828|141/275||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000491449|processed_transcript||n.-1C>T|||||3312|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000489511|processed_transcript||n.-1C>T|||||4909|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000473946|processed_transcript||n.-1C>T|||||3310|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|4/23|n.1726C>T||||||
22	50671849	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|3/25|c.1012G>A|p.Val338Ile|1117/5612|1012/5460|338/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|3/25|c.1012G>A|p.Val338Ile|1505/6053|1012/4482|338/1493||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|2/6|c.241G>A|p.Val81Ile|243/830|241/828|81/275||WARNING_TRANSCRIPT_NO_START_CODON,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|3/23|n.1545G>A||||||
22	50678700	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/25|c.838G>C|p.Val280Leu|943/5612|838/5460|280/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/25|c.838G>C|p.Val280Leu|1331/6053|838/4482|280/1493||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/6|c.88G>C|p.Val30Leu|90/830|88/828|30/275||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>C|||||4912|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>C|||||4912|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/23|n.1371G>C||||||
22	50678739	.	T	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|2/25|c.799A>T|p.Thr267Ser|904/5612|799/5460|267/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|2/25|c.799A>T|p.Thr267Ser|1292/6053|799/4482|267/1493||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding|1/6|c.49A>T|p.Thr17Ser|51/830|49/828|17/275||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>T|||||4873|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>T|||||4873|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|2/23|n.1332A>T||||||
22	50682161	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.728G>T|p.Gly243Val|833/5612|728/5460|243/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.728G>T|p.Gly243Val|1221/6053|728/4482|243/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>T|||||3372|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>T|||||1451|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>T|||||1451|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>T|||||1673|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>T|||||1710|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>T|||||1718|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>T|||||1718|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>T|||||1775|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>T|||||2059|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>T|||||2247|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>T|||||2597|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||3406|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||3964|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||4176|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||4963|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1261G>T||||||
22	50682215	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.674A>G|p.Asp225Gly|779/5612|674/5460|225/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.674A>G|p.Asp225Gly|1167/6053|674/4482|225/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||3426|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||1397|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||1397|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338A>G|||||1619|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153A>G|||||1656|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784A>G|||||1664|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248A>G|||||1664|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1721|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||2005|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||2193|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||2543|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||3352|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||3910|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||4122|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||4909|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1207A>G||||||
22	50682234	.	C	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.655G>T|p.Val219Leu|760/5612|655/5460|219/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.655G>T|p.Val219Leu|1148/6053|655/4482|219/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>T|||||3445|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>T|||||1378|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>T|||||1378|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>T|||||1600|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>T|||||1637|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>T|||||1645|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>T|||||1645|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>T|||||1702|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>T|||||1986|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>T|||||2174|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>T|||||2524|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||3333|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||3891|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||4103|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||4890|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1188G>T||||||
22	50682300	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.589T>C|p.Ser197Pro|694/5612|589/5460|197/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.589T>C|p.Ser197Pro|1082/6053|589/4482|197/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3T>C|||||3511|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363T>C|||||1312|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520T>C|||||1312|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338T>C|||||1534|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153T>C|||||1571|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784T>C|||||1579|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248T>C|||||1579|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950T>C|||||1636|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976T>C|||||1920|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885T>C|||||2108|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928T>C|||||2458|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>C|||||3267|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>C|||||3825|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>C|||||4037|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||4824|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1122T>C||||||
22	50682351	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.538C>A|p.Gln180Lys|643/5612|538/5460|180/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.538C>A|p.Gln180Lys|1031/6053|538/4482|180/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>A|||||3562|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>A|||||1261|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>A|||||1261|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>A|||||1483|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>A|||||1520|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>A|||||1528|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>A|||||1528|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>A|||||1585|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>A|||||1869|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>A|||||2057|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>A|||||2407|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>A|||||3216|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>A|||||3774|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>A|||||3986|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>A|||||4773|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1071C>A||||||
22	50682361	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.528G>C|p.Gln176His|633/5612|528/5460|176/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.528G>C|p.Gln176His|1021/6053|528/4482|176/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>C|||||3572|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>C|||||1251|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>C|||||1251|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>C|||||1473|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>C|||||1510|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>C|||||1518|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>C|||||1518|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>C|||||1575|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>C|||||1859|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>C|||||2047|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>C|||||2397|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>C|||||3206|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>C|||||3764|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>C|||||3976|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>C|||||4763|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.1061G>C||||||
22	50682446	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.443A>G|p.Tyr148Cys|548/5612|443/5460|148/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.443A>G|p.Tyr148Cys|936/6053|443/4482|148/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||3657|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||1166|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||1166|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338A>G|||||1388|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153A>G|||||1425|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784A>G|||||1433|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248A>G|||||1433|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1490|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||1774|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||1962|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||2312|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||3121|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||3679|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||3891|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||4678|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.976A>G||||||
22	50682578	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.311T>C|p.Leu104Pro|416/5612|311/5460|104/1819||,G|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.311T>C|p.Leu104Pro|804/6053|311/4482|104/1493||,G|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3T>C|||||3789|WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363T>C|||||1034|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520T>C|||||1034|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338T>C|||||1256|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153T>C|||||1293|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784T>C|||||1301|,G|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248T>C|||||1301|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950T>C|||||1358|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976T>C|||||1642|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885T>C|||||1830|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928T>C|||||2180|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>C|||||2989|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>C|||||3547|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>C|||||3759|,G|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>C|||||4546|,G|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.844T>C||||||
22	50682644	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.245T>G|p.Leu82Arg|350/5612|245/5460|82/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.245T>G|p.Leu82Arg|738/6053|245/4482|82/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3T>G|||||3855|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363T>G|||||968|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520T>G|||||968|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338T>G|||||1190|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153T>G|||||1227|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784T>G|||||1235|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248T>G|||||1235|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950T>G|||||1292|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976T>G|||||1576|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885T>G|||||1764|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928T>G|||||2114|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239T>G|||||2923|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847T>G|||||3481|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034T>G|||||3693|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732T>G|||||4480|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.778T>G||||||
22	50682758	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.131C>T|p.Ala44Val|236/5612|131/5460|44/1819||,A|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.131C>T|p.Ala44Val|624/6053|131/4482|44/1493||,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3C>T|||||3969|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363C>T|||||854|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520C>T|||||854|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338C>T|||||1076|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153C>T|||||1113|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784C>T|||||1121|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248C>T|||||1121|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950C>T|||||1178|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976C>T|||||1462|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>T|||||1650|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>T|||||2000|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||2809|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||3367|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||3579|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||4366|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||4958|,A|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.664C>T||||||
22	50682771	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.118G>A|p.Val40Met|223/5612|118/5460|40/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.118G>A|p.Val40Met|611/6053|118/4482|40/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>A|||||3982|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>A|||||841|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>A|||||841|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>A|||||1063|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>A|||||1100|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>A|||||1108|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>A|||||1108|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>A|||||1165|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>A|||||1449|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>A|||||1637|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||1987|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||2796|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||3354|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||3566|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||4353|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||4945|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.651G>A||||||
22	50682800	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.89G>A|p.Arg30Gln|194/5612|89/5460|30/1819||,T|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.89G>A|p.Arg30Gln|582/6053|89/4482|30/1493||,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3G>A|||||4011|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363G>A|||||812|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520G>A|||||812|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338G>A|||||1034|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153G>A|||||1071|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784G>A|||||1079|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248G>A|||||1079|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950G>A|||||1136|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976G>A|||||1420|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885G>A|||||1608|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||1958|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||2767|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||3325|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||3537|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||4324|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||4916|,T|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.622G>A||||||
22	50682879	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding|1/25|c.10A>G|p.Ile4Val|115/5612|10/5460|4/1819||,C|missense_variant|MODERATE|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding|1/25|c.10A>G|p.Ile4Val|503/6053|10/4482|4/1493||,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000434349|protein_coding||c.-3A>G|||||4090|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.*2363A>G|||||733|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.*520A>G|||||733|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.*338A>G|||||955|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.*1191A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.*2068A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.*2091A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.*2153A>G|||||992|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.*1784A>G|||||1000|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.*6248A>G|||||1000|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.*1950A>G|||||1057|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.*976A>G|||||1341|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885A>G|||||1529|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||1879|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||2688|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||3246|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||3458|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||4245|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||4837|,C|non_coding_exon_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron|1/23|n.543A>G||||||
22	50684374	.	G	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1798C>A|p.Leu600Met|2151/2687|1798/2010|600/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1648C>A|p.Leu550Met|1856/2133|1648/1860|550/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1738C>A|p.Leu580Met|1738/1950|1738/1950|580/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1319C>A|||||4119|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*982C>A|||||4119|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*372C>A|||||1018|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>A|||||1381|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>A|||||953|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>A|||||993|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>A|||||34|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>A|||||384|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>A|||||1193|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>A|||||1751|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>A|||||1963|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>A|||||2750|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>A|||||3342|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>A|||||3914|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>A|||||3923|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>A|||||4174|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>A|||||4312|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1319C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*982C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*372C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1814C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1876C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1433C>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.6070C>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.822C>A||||||
22	50684395	.	G	C	.	.	ANN=C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1777C>G|p.Leu593Val|2130/2687|1777/2010|593/669||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1627C>G|p.Leu543Val|1835/2133|1627/1860|543/619||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1717C>G|p.Leu573Val|1717/1950|1717/1950|573/649||,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1298C>G|||||4098|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*961C>G|||||4098|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*351C>G|||||997|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>G|||||1402|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>G|||||974|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>G|||||1014|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.*885C>G|||||13|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928C>G|||||363|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>G|||||1172|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>G|||||1730|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>G|||||1942|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>G|||||2729|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>G|||||3321|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>G|||||3893|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>G|||||3902|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>G|||||4153|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>G|||||4291|,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1298C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*961C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*351C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1793C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1855C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1412C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.6049C>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.801C>G||||||
22	50684415	.	T	C	.	.	ANN=C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1757A>G|p.Gln586Arg|2110/2687|1757/2010|586/669||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1607A>G|p.Gln536Arg|1815/2133|1607/1860|536/619||,C|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1697A>G|p.Gln566Arg|1697/1950|1697/1950|566/649||,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1278A>G|||||4078|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*941A>G|||||4078|,C|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*331A>G|||||977|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106A>G|||||1422|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1A>G|||||994|,C|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494A>G|||||1034|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928A>G|||||343|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239A>G|||||1152|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847A>G|||||1710|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034A>G|||||1922|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732A>G|||||2709|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715A>G|||||3301|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759A>G|||||3873|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810A>G|||||3882|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578A>G|||||4133|,C|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469A>G|||||4271|,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1278A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*941A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*331A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1773A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1835A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1392A>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.6029A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.781A>G||||||,C|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|5/5|n.878A>G||||||
22	50684515	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|18/20|c.1657G>A|p.Gly553Ser|2010/2687|1657/2010|553/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|16/18|c.1507G>A|p.Gly503Ser|1715/2133|1507/1860|503/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|17/19|c.1597G>A|p.Gly533Ser|1597/1950|1597/1950|533/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1178G>A|||||3978|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*841G>A|||||3978|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*231G>A|||||877|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||1522|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1094|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1134|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||243|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||1052|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1610|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1822|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2609|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||3201|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3773|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3782|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||4033|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||4171|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|16/18|n.*1178G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|12/14|n.*841G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|15/16|n.*231G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|17/19|n.1673G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|17/19|n.1735G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|9/10|n.1292G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|24/26|n.5929G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|5/5|n.681G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|5/5|n.778G>A||||||
22	50684747	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|17/20|c.1630G>A|p.Val544Ile|1983/2687|1630/2010|544/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|15/18|c.1480G>A|p.Val494Ile|1688/2133|1480/1860|494/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|16/19|c.1570G>A|p.Val524Ile|1570/1950|1570/1950|524/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/18|n.*1151G>A|||||3746|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/14|n.*814G>A|||||3746|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/16|n.*204G>A|||||645|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||1754|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||1326|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||1366|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.*928G>A|||||11|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>A|||||820|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>A|||||1378|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>A|||||1590|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||2377|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||2969|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||3541|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||3550|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||3801|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||3939|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|15/18|n.*1151G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|11/14|n.*814G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|14/16|n.*204G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|16/19|n.1646G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|16/19|n.1708G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|8/10|n.1265G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|23/26|n.5902G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.654G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|4/5|n.751G>A||||||
22	50685154	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|16/20|c.1525G>T|p.Val509Leu|1878/2687|1525/2010|509/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|14/18|c.1375G>T|p.Val459Leu|1583/2133|1375/1860|459/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|15/19|c.1465G>T|p.Val489Leu|1465/1950|1465/1950|489/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/18|n.*1046G>T|||||3339|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/14|n.*709G>T|||||3339|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/16|n.*99G>T|||||238|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||2161|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||1733|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||1773|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239G>T|||||413|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847G>T|||||971|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034G>T|||||1183|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||1970|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||2562|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||3134|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||3143|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||3394|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||3532|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|14/18|n.*1046G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|10/14|n.*709G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|13/16|n.*99G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|15/19|n.1541G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|15/19|n.1603G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|7/10|n.1160G>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|22/26|n.5797G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|4/5|n.247G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.646G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|7/8|n.834G>T||||||
22	50685310	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/20|c.1508C>T|p.Ala503Val|1861/2687|1508/2010|503/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/18|c.1358C>T|p.Ala453Val|1566/2133|1358/1860|453/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/19|c.1448C>T|p.Ala483Val|1448/1950|1448/1950|483/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1029C>T|||||3183|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*692C>T|||||3183|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*82C>T|||||82|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||2317|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1889|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1929|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||257|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||815|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||1027|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||1814|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||2406|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2978|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2987|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3238|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3376|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1029C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*692C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*82C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/19|n.1524C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/19|n.1586C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/10|n.1143C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/26|n.5780C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/5|n.230C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.490C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/8|n.817C>T||||||
22	50685332	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/20|c.1486C>T|p.Arg496Trp|1839/2687|1486/2010|496/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/18|c.1336C>T|p.Arg446Trp|1544/2133|1336/1860|446/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/19|c.1426C>T|p.Arg476Trp|1426/1950|1426/1950|476/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1007C>T|||||3161|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*670C>T|||||3161|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*60C>T|||||60|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||2339|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1911|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1951|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||235|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||793|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||1005|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||1792|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||2384|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2956|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2965|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3216|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3354|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*1007C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*670C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*60C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/19|n.1502C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/19|n.1564C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/10|n.1121C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/26|n.5758C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/5|n.208C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.468C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/8|n.795C>T||||||
22	50685370	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|15/20|c.1448C>T|p.Pro483Leu|1801/2687|1448/2010|483/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|13/18|c.1298C>T|p.Pro433Leu|1506/2133|1298/1860|433/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|14/19|c.1388C>T|p.Pro463Leu|1388/1950|1388/1950|463/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*969C>T|||||3123|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*632C>T|||||3123|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*22C>T|||||22|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||2377|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||1949|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||1989|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.*1239C>T|||||197|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.*847C>T|||||755|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.*1034C>T|||||967|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||1754|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||2346|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||2918|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||2927|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||3178|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||3316|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|13/18|n.*969C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|9/14|n.*632C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|12/16|n.*22C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|14/19|n.1464C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|14/19|n.1526C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|6/10|n.1083C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|21/26|n.5720C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|3/5|n.170C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|3/5|n.430C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|6/8|n.757C>T||||||
22	50686371	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1285G>A|p.Val429Ile|1638/2687|1285/2010|429/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1135G>A|p.Val379Ile|1343/2133|1135/1860|379/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1225G>A|p.Val409Ile|1225/1950|1225/1950|409/649||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*806G>A|||||2122|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*554G>A|||||2122|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||3378|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||2950|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||2990|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4961|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||753|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||1345|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1917|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1926|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||2177|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||2315|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4961|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4978|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*806G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*554G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1135G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1301G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1363G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.920G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5557G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron|1/5|n.7G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.352G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.679G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.435G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.714G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.1000G>A||||||
22	50686400	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1256C>T|p.Pro419Leu|1609/2687|1256/2010|419/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1106C>T|p.Pro369Leu|1314/2133|1106/1860|369/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1196C>T|p.Pro399Leu|1196/1950|1196/1950|399/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*777C>T|||||2093|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*525C>T|||||2093|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3407|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||2979|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3019|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||23|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4932|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||724|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1316|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1888|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1897|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2148|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2286|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4932|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4932|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4949|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*777C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*525C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1106C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1272C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1334C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.891C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5528C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.323C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.650C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.406C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.685C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.971C>T||||||
22	50686403	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1253C>T|p.Thr418Met|1606/2687|1253/2010|418/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1103C>T|p.Thr368Met|1311/2133|1103/1860|368/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1193C>T|p.Thr398Met|1193/1950|1193/1950|398/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*774C>T|||||2090|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*522C>T|||||2090|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3410|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||2982|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3022|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||26|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4929|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||721|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1313|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1885|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1894|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2145|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2283|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4929|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4929|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4946|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*774C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*522C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1103C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1269C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1331C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.888C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5525C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.320C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.647C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.403C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.682C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.968C>T||||||
22	50686424	.	C	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1232G>T|p.Arg411Leu|1585/2687|1232/2010|411/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1082G>T|p.Arg361Leu|1290/2133|1082/1860|361/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1172G>T|p.Arg391Leu|1172/1950|1172/1950|391/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*753G>T|||||2069|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*501G>T|||||2069|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>T|||||3431|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>T|||||3003|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>T|||||3043|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>T|||||47|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>T|||||4908|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>T|||||700|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>T|||||1292|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>T|||||1864|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>T|||||1873|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>T|||||2124|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>T|||||2262|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>T|||||4908|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>T|||||4908|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>T|||||4925|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*753G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*501G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1082G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1248G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1310G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.867G>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5504G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.299G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.626G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.382G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.661G>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.947G>T||||||
22	50686473	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|13/20|c.1183C>T|p.Pro395Ser|1536/2687|1183/2010|395/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|11/18|c.1033C>T|p.Pro345Ser|1241/2133|1033/1860|345/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|12/19|c.1123C>T|p.Pro375Ser|1123/1950|1123/1950|375/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*704C>T|||||2020|,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*452C>T|||||2020|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3480|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3052|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3092|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||96|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4859|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||651|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||1243|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1815|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1824|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||2075|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||2213|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4859|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4859|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4876|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|11/18|n.*704C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|8/14|n.*452C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|11/16|n.1033C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|12/19|n.1199C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|12/19|n.1261C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|4/10|n.818C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|19/26|n.5455C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron|2/5|n.250C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|5/8|n.577C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|2/2|n.333C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|5/6|n.612C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|3/3|n.898C>T||||||
22	50686807	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|11/20|c.1001C>T|p.Ala334Val|1354/2687|1001/2010|334/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|9/18|c.851C>T|p.Ala284Val|1059/2133|851/1860|284/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|10/19|c.941C>T|p.Ala314Val|941/1950|941/1950|314/649||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*270C>T|||||1686|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||3814|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3386|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3426|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||430|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||6|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4525|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732C>T|||||317|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||909|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||1481|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1490|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1741|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1879|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4525|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4525|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4542|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/17|n.*535-86C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|6/14|n.*270C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|9/16|n.851C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|10/19|n.1017C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|10/19|n.1079C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|3/10|n.563C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|17/26|n.5273C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|3/8|n.395C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron|1/2|n.78C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|3/6|n.430C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|2/3|n.637C>T||||||
22	50687117	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|10/20|c.880G>A|p.Gly294Ser|1233/2687|880/2010|294/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|9/19|c.820G>A|p.Gly274Ser|820/1950|820/1950|274/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.880G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.880G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*508G>A|||||1376|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4124|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||3696|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||3736|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||740|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||316|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||233|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||4215|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.*732G>A|||||7|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||599|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||1171|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||1180|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||1431|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1569|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||4215|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||4215|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||4232|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-216G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.757-216G>A||||||,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.757-216G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|9/18|n.*508G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|9/19|n.896G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|9/19|n.958G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|2/10|n.442G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|16/26|n.5152G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|2/8|n.274G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|2/6|n.309G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.516G>A||||||
22	50687294	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|9/20|c.782C>T|p.Ser261Leu|1135/2687|782/2010|261/669||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/18|n.804-6C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/18|n.866-6C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.782C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.782C>T||||||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|8/18|n.*410C>T|||||1199|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4301|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||3873|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||3913|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||917|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||493|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||410|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||4038|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||422|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||994|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||1003|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||1254|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1392|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||4038|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||4038|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||4055|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||4919|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||4923|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||4988|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*176-393C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/15|n.756+238C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/17|c.756+238C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/18|c.757-114C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|8/18|n.*410C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.344C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|15/26|n.5054C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron|1/8|n.176C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron|1/6|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.339C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|7/8|n.641C>T||||||
22	50687558	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/20|c.730C>T|p.His244Tyr|1083/2687|730/2010|244/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/18|c.730C>T|p.His244Tyr|938/2133|730/1860|244/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/19|c.730C>T|p.His244Tyr|730/1950|730/1950|244/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.730C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.730C>T||||||,A|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*358C>T|||||935|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106C>T|||||4565|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1C>T|||||4137|,A|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494C>T|||||4177|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||1181|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||757|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||89|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||674|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||54|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||3774|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715C>T|||||158|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759C>T|||||730|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810C>T|||||739|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578C>T|||||990|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||1128|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||3774|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||3774|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||3791|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||4655|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||4659|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||4724|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+506C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*358C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/16|n.730C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/19|n.777C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/19|n.839C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.80C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.5002C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.75C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/8|n.589C>T||||||
22	50687573	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|8/20|c.715G>A|p.Val239Met|1068/2687|715/2010|239/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|8/18|c.715G>A|p.Val239Met|923/2133|715/1860|239/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|8/19|c.715G>A|p.Val239Met|715/1950|715/1950|239/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.715G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.715G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*343G>A|||||920|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4580|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4152|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4192|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1196|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||772|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||104|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||689|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||69|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3759|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.*715G>A|||||143|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||715|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||724|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||975|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||1113|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3759|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3759|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3776|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4640|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4644|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4709|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+491G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|7/18|n.*343G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|8/16|n.715G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|7/19|n.762G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|7/19|n.824G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron|1/10|n.65G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.4987G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron|1/3|n.60G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|6/8|n.574G>A||||||
22	50687800	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|7/20|c.647G>A|p.Arg216Gln|1000/2687|647/2010|216/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|7/18|c.647G>A|p.Arg216Gln|855/2133|647/1860|216/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|7/19|c.647G>A|p.Arg216Gln|647/1950|647/1950|216/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.647G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.647G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|6/18|n.*275G>A|||||693|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000248846|protein_coding||c.-106G>A|||||4807|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4379|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4419|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||163|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1423|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||999|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||331|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||916|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||296|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||168|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||3532|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.*759G>A|||||488|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.*810G>A|||||497|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||748|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||886|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||3532|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||3532|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3549|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||4413|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||4417|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||4482|,T|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|5/13|n.*175+264G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|6/18|n.*275G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|7/16|n.647G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|6/19|n.694G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|6/19|n.756G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|14/26|n.4760G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|5/8|n.476G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|3/3|n.631G>A||||||
22	50688335	.	C	T	.	.	ANN=T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|5/20|c.448G>A|p.Val150Met|801/2687|448/2010|150/669||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|5/18|c.448G>A|p.Val150Met|656/2133|448/1860|150/619||,T|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|5/19|c.448G>A|p.Val150Met|448/1950|448/1950|150/649||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.448G>A||||||,T|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.448G>A||||||,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/18|n.*60G>A|||||158|,T|3_prime_UTR_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/14|n.*60G>A|||||158|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000498611|retained_intron||n.-1G>A|||||4914|,T|upstream_gene_variant|MODIFIER|TUBGCP6|ENSG00000128159|transcript|ENST00000439308|protein_coding||c.-494G>A|||||4954|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||698|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1G>A|||||1958|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1G>A|||||1534|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||866|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||1451|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||831|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||703|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420G>A|||||2997|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.*578G>A|||||213|,T|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469G>A|||||351|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961G>A|||||2997|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785G>A|||||2997|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019G>A|||||3014|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||3878|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||3882|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||3947|,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|4/18|n.*60G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|4/14|n.*60G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|5/16|n.448G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|4/19|n.433G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|4/19|n.557G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|12/26|n.4561G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|3/8|n.277G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|2/3|n.252G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|4/4|n.712G>A||||||,T|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|3/3|n.772G>A||||||
22	50688573	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|4/20|c.308C>T|p.Ala103Val|661/2687|308/2010|103/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|4/18|c.308C>T|p.Ala103Val|516/2133|308/1860|103/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|4/19|c.308C>T|p.Ala103Val|308/1950|308/1950|103/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.308C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.308C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||936|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2196|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||1772|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1104|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||1689|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1069|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||941|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2759|,A|downstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.*469C>T|||||113|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2759|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2759|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2776|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||3640|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||3644|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||3709|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|3/18|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|3/14|n.211C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|4/16|n.308C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|3/19|n.293C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|3/19|n.417C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.4421C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|2/8|n.137C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron|1/3|n.112C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|3/4|n.572C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|2/3|n.632C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|4/4|n.553C>T||||||
22	50689311	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|2/20|c.83C>T|p.Pro28Leu|436/2687|83/2010|28/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|2/18|c.83C>T|p.Pro28Leu|291/2133|83/1860|28/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|2/19|c.83C>T|p.Pro28Leu|83/1950|83/1950|28/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.83C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.83C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||1674|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||2934|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||2510|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1842|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||2427|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1807|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||1679|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1C>T|||||627|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||2021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||2021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||2021|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||2038|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||2902|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||2906|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||2971|,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|2/18|n.83C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|2/14|n.83C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|2/16|n.83C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|2/19|n.165C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|2/19|n.289C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3683C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript|1/8|n.9C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/4|n.347C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/3|n.504C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|2/4|n.328C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron|1/2|n.91C>T||||||
22	50689427	.	G	A	.	.	ANN=A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding|1/20|c.35C>T|p.Thr12Met|388/2687|35/2010|12/669||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding|1/18|c.35C>T|p.Thr12Met|243/2133|35/1860|12/619||,A|missense_variant|MODERATE|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding|1/19|c.35C>T|p.Thr12Met|35/1950|35/1950|12/649||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|10/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|9/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|7/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|2/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|6/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|3/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|1/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|4/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|11/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|5/20|c.35C>T||||||,A|sequence_feature|LOW|HDAC10|ENSG00000100429|region_of_interest:Histone_deacetylase|ENST00000216271|protein_coding|8/20|c.35C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1C>T|||||1790|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497952|retained_intron||n.-1C>T|||||3050|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496235|retained_intron||n.-1C>T|||||2626|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1C>T|||||1958|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1C>T|||||2543|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1C>T|||||1923|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1C>T|||||1795|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||108|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1C>T|||||743|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||26|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.*1420C>T|||||1905|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.*961C>T|||||1905|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.*1785C>T|||||1905|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.*2019C>T|||||1922|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760C>T|||||2786|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101C>T|||||2790|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021C>T|||||2855|,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript|1/18|n.142-93C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript|1/18|n.266-93C>T||||||,A|intron_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript|1/3|n.305-93C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay|1/18|n.35C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay|1/14|n.35C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay|1/16|n.35C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.3567C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript|1/4|n.231C>T||||||,A|non_coding_exon_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript|1/3|n.388C>T||||||
22	50691870	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|12/12|c.1064G>A|p.Arg355Gln|1380/1918|1064/1104|355/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|10/10|c.794G>A|p.Arg265Gln|921/1459|794/834|265/277||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||2056|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||2180|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||2362|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||2409|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||2201|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||2199|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||2075|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000477814|retained_intron||n.-1G>A|||||4233|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||2409|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000471375|retained_intron||n.-1G>A|||||4401|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000475965|retained_intron||n.-1G>A|||||4986|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000476310|retained_intron||n.-1G>A|||||4366|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470378|retained_intron||n.-1G>A|||||4238|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||2551|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000488270|retained_intron||n.-1G>A|||||3186|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||2213|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||2056|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||2036|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||2469|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.*2760G>A|||||343|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.*2101G>A|||||347|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.*2021G>A|||||412|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||4122|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||4248|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|11/26|n.1124G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|12/12|n.1247G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|11/11|n.1498G>A||||||
22	50693704	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/12|c.946G>A|p.Asp316Asn|1262/1918|946/1104|316/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/10|c.676G>A|p.Asp226Asn|803/1459|676/834|226/277||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||3890|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||4014|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||4196|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||4243|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||4035|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||4033|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||3909|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||4243|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||4385|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||4047|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||3890|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||3870|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||4303|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||2288|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||2414|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/26|n.1006G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/12|n.1129G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/11|n.1380G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|4/4|n.1269G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|8/8|n.614G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|4/4|n.599G>A||||||
22	50693764	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|11/12|c.886G>A|p.Ala296Thr|1202/1918|886/1104|296/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|9/10|c.616G>A|p.Ala206Thr|743/1459|616/834|206/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.886G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|turn|ENST00000215659|protein_coding|11/12|c.886G>A||||||,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354G>A|||||3950|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230G>A|||||4074|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48G>A|||||4256|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1G>A|||||4303|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209G>A|||||4095|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1G>A|||||4093|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1G>A|||||3969|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1G>A|||||4303|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1G>A|||||4445|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1G>A|||||4107|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1G>A|||||3950|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1G>A|||||3930|,T|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1G>A|||||4363|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||2228|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||2354|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|10/26|n.946G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|11/12|n.1069G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|10/11|n.1320G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|4/4|n.1209G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|8/8|n.554G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|4/4|n.539G>A||||||
22	50693899	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.833C>T|p.Thr278Ile|1149/1918|833/1104|278/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.563C>T|p.Thr188Ile|690/1459|563/834|188/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.833C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.833C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4085|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4209|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>T|||||4391|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>T|||||4438|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4230|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4228|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4104|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>T|||||4438|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>T|||||4580|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4242|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4085|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4065|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>T|||||4498|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||2093|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||2219|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.893C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.1016C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1267C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1156C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.501C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.486C>T||||||
22	50693939	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|10/12|c.793C>G|p.Leu265Val|1109/1918|793/1104|265/367||,C|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|8/10|c.523C>G|p.Leu175Val|650/1459|523/834|175/277||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.793C>G||||||,C|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.793C>G||||||,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>G|||||4125|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>G|||||4249|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000429374|nonsense_mediated_decay||n.-48C>G|||||4431|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000454936|nonsense_mediated_decay||n.-1C>G|||||4478|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>G|||||4270|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>G|||||4268|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>G|||||4144|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000349505|protein_coding||c.-1C>G|||||4478|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000496909|processed_transcript||n.-1C>G|||||4620|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>G|||||4282|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>G|||||4125|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>G|||||4105|,C|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000482213|retained_intron||n.-1C>G|||||4538|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>G|||||2053|,C|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>G|||||2179|,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|9/26|n.853C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|10/12|n.976C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|9/11|n.1227C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|3/4|n.1116C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|7/8|n.461C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|3/4|n.446C>G||||||
22	50694529	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|7/12|c.604C>T|p.Arg202Cys|920/1918|604/1104|202/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|5/10|c.334C>T|p.Arg112Cys|461/1459|334/834|112/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.604C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.604C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4715|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4839|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4860|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4858|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4734|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4872|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4715|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4695|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||1463|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||1589|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|6/26|n.664C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|7/12|n.787C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|6/11|n.1038C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.609C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|4/8|n.272C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/4|n.54C>T||||||
22	50694568	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|7/12|c.565C>T|p.Arg189Trp|881/1918|565/1104|189/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|5/10|c.295C>T|p.Arg99Trp|422/1459|295/834|99/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.565C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|7/12|c.565C>T||||||,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000216271|protein_coding||c.-354C>T|||||4754|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000415993|nonsense_mediated_decay||n.-230C>T|||||4878|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000448072|protein_coding||c.-209C>T|||||4899|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000483222|processed_transcript||n.-1C>T|||||4897|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000498366|processed_transcript||n.-1C>T|||||4773|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000489424|processed_transcript||n.-1C>T|||||4911|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000470965|processed_transcript||n.-1C>T|||||4754|,A|upstream_gene_variant|MODIFIER|HDAC10|ENSG00000100429|transcript|ENST00000497483|processed_transcript||n.-1C>T|||||4734|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498C>T|||||1424|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394C>T|||||1550|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|6/26|n.625C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|7/12|n.748C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|6/11|n.999C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|2/4|n.570C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|4/8|n.233C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron|1/4|n.15C>T||||||
22	50695045	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|6/12|c.487G>A|p.Glu163Lys|803/1918|487/1104|163/367||,T|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|4/10|c.217G>A|p.Glu73Lys|344/1459|217/834|73/277||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.487G>A||||||,T|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.487G>A||||||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1G>A|||||463|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498G>A|||||947|,T|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394G>A|||||1073|,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|5/26|n.547G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|6/12|n.670G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|5/11|n.921G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron|1/4|n.492G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|3/8|n.155G>A||||||
22	50695593	.	T	A	.	.	ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|4/12|c.344A>T|p.Asp115Val|660/1918|344/1104|115/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|3/10|c.104A>T|p.Asp35Val|231/1459|104/834|35/277||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.344A>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|beta_strand|ENST00000215659|protein_coding|4/12|c.344A>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1A>T|||||57|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1A>T|||||1011|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.*498A>T|||||399|,A|downstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.*394A>T|||||525|,A|intron_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/7|n.125-518A>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|3/26|n.404A>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|4/12|n.380A>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|3/11|n.631A>T||||||
22	50696678	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|3/12|c.308C>T|p.Thr103Met|624/1918|308/1104|103/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|2/10|c.68C>T|p.Thr23Met|195/1459|68/834|23/277||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|3/4|c.308C>T|p.Thr103Met|342/605|308/360|103/119||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.308C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.308C>T||||||,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>T|||||1142|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497738|retained_intron||n.-1C>T|||||2096|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript|2/26|n.368C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|3/12|n.344C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|2/11|n.595C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|2/8|n.118C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript|2/3|n.394C>T||||||
22	50699625	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding|2/12|c.226C>T|p.Arg76Cys|542/1918|226/1104|76/367||,A|missense_variant|MODERATE|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding|2/4|c.226C>T|p.Arg76Cys|260/605|226/360|76/119||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|3/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|10/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|6/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|1/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|8/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|4/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|9/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|2/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|11/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|5/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|domain:Protein_kinase|ENST00000215659|protein_coding|7/12|c.226C>T||||||,A|sequence_feature|LOW|MAPK12|ENSG00000188130|helix|ENST00000215659|protein_coding|2/12|c.226C>T||||||,A|5_prime_UTR_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding|1/10|c.-15C>T|||||15|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>T|||||53|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000496942|retained_intron||n.-1C>T|||||4089|,A|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>T|||||27|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding||c.*1196C>T|||||2517|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay||n.*1196C>T|||||2519|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay||n.*593C>T|||||2543|,A|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>T|||||4953|,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron|2/12|n.262C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron|1/11|n.513C>T||||||,A|non_coding_exon_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron|1/8|n.36C>T||||||
22	50704028	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|10/12|c.824G>A|p.Arg275His|925/2431|824/1095|275/364||,T|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*336G>A|||||1535|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317G>A|||||3774|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1G>A|||||4456|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128G>A|||||4291|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1G>A|||||4054|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1G>A|||||3891|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1G>A|||||4368|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1G>A|||||4430|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35G>A|||||4056|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979G>A|||||550|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||1539|,T|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|10/13|n.824G>A||||||,T|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*336G>A||||||
22	50704075	.	G	C	.	.	ANN=C|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|10/12|c.777C>G|p.Ile259Met|878/2431|777/1095|259/364||,C|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*289C>G|||||1488|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317C>G|||||3821|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000497036|processed_transcript||n.-1C>G|||||4503|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395780|protein_coding||c.-128C>G|||||4338|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000488504|retained_intron||n.-1C>G|||||4101|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1C>G|||||3938|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000482969|retained_intron||n.-1C>G|||||4415|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000492218|processed_transcript||n.-1C>G|||||4477|,C|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000395778|protein_coding||c.-35C>G|||||4103|,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding||c.*979C>G|||||503|,C|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566C>G|||||1492|,C|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|10/13|n.777C>G||||||,C|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|10/12|n.*289C>G||||||
22	50705059	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.590T>C|p.Val197Ala|927/1408|590/642|197/213||,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317T>C|||||4805|,G|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1T>C|||||4922|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566T>C|||||508|,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/11|c.611-19T>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/12|n.611-19T>C||||||,G|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/11|n.*123-19T>C||||||
22	50705060	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.589G>A|p.Val197Ile|926/1408|589/642|197/213||,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000215659|protein_coding||c.-317G>A|||||4806|,T|upstream_gene_variant|MODIFIER|MAPK12|ENSG00000188130|transcript|ENST00000467891|retained_intron||n.-1G>A|||||4923|,T|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>A|||||507|,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/11|c.611-20G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/12|n.611-20G>A||||||,T|intron_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/11|n.*123-20G>A||||||
22	50705442	.	C	G	.	.	ANN=G|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000330651|protein_coding|7/12|c.531G>C|p.Glu177Asp|632/2431|531/1095|177/364||,G|missense_variant|MODERATE|MAPK11|ENSG00000185386|transcript|ENST00000449719|protein_coding|6/6|c.207G>C|p.Glu69Asp|544/1408|207/642|69/213||,G|3_prime_UTR_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/12|n.*43G>C|||||121|,G|downstream_gene_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000495277|processed_transcript||n.*566G>C|||||125|,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000395764|nonsense_mediated_decay|7/13|n.531G>C||||||,G|non_coding_exon_variant|MODIFIER|MAPK11|ENSG00000185386|transcript|ENST00000417877|nonsense_mediated_decay|7/12|n.*43G>C||||||
22	50714211	.	A	G	.	.	ANN=G|missense_variant|MODERATE|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding|1/2|c.109A>G|p.Arg37Gly|109/168|109/168|37/55||WARNING_TRANSCRIPT_NO_STOP_CODON,G|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|37/37|c.5439T>C|p.Pro1813Pro|5548/6351|5439/5517|1813/1838||,G|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|37/37|c.5439T>C|p.Pro1813Pro|5580/6383|5439/5517|1813/1838||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5439T>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5439T>C||||||,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704T>C|||||2071|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|8/8|n.1113T>C||||||,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|19/19|n.2701T>C||||||,G|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|17/17|n.2241T>C||||||
22	50714389	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|36/37|c.5341C>T|p.His1781Tyr|5450/6351|5341/5517|1781/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|36/37|c.5341C>T|p.His1781Tyr|5482/6383|5341/5517|1781/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.5341C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.5341C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||39|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.*704C>T|||||1893|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|7/8|n.1015C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|18/19|n.2603C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|16/17|n.2143C>T||||||
22	50716375	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|32/37|c.4955C>T|p.Pro1652Leu|5064/6351|4955/5517|1652/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|32/37|c.4955C>T|p.Pro1652Leu|5096/6383|4955/5517|1652/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|6/6|c.611C>T|p.Pro204Leu|611/704|611/704|204/233||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.4955C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.4955C>T||||||,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||2025|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||3181|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||3628|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron|3/8|n.629C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|14/19|n.2217C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|12/17|n.1757C>T||||||
22	50719237	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|24/37|c.3929C>T|p.Pro1310Leu|4038/6351|3929/5517|1310/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|24/37|c.3929C>T|p.Pro1310Leu|4070/6383|3929/5517|1310/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|22/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|34/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|33/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|25/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|27/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|35/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|24/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|29/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|23/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|28/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|36/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|30/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|26/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|31/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|37/37|c.3929C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Cytoplasmic|ENST00000359337|protein_coding|32/37|c.3929C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||1968|,A|downstream_gene_variant|MODIFIER|AL022328.1|ENSG00000268427|transcript|ENST00000595015|protein_coding||c.*168G>A|||||4887|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.*644C>T|||||319|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.*567C>T|||||766|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||2530|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||3359|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-2112C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|6/19|n.1191C>T||||||,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron|4/17|n.731C>T||||||
22	50720408	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|20/37|c.3220G>A|p.Glu1074Lys|3329/6351|3220/5517|1074/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|20/37|c.3220G>A|p.Glu1074Lys|3361/6383|3220/5517|1074/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|2/3|c.271G>A|p.Glu91Lys|273/567|271/565|91/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.3220G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.3220G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3139|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||45|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||1359|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||2188|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-3283G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron|2/19|n.482G>A||||||,T|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron|1/3|n.28G>A||||||
22	50721170	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2957G>A|p.Arg986Gln|3066/6351|2957/5517|986/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2957G>A|p.Arg986Gln|3098/6383|2957/5517|986/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.138G>A|p.Ala46Ala|140/567|138/565|46/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.2957G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.2957G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3901|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||179|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||807|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||735|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||597|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1426|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4045G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721177	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2950G>A|p.Val984Ile|3059/6351|2950/5517|984/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2950G>A|p.Val984Ile|3091/6383|2950/5517|984/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.131G>A|p.Arg44His|133/567|131/565|44/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|19/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|18/37|c.2950G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_3|ENST00000359337|protein_coding|20/37|c.2950G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3908|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||186|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||814|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||742|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||590|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1419|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4052G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721188	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2939G>A|p.Arg980His|3048/6351|2939/5517|980/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2939G>A|p.Arg980His|3080/6383|2939/5517|980/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.120G>A|p.Pro40Pro|122/567|120/565|40/187||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2939G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2939G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3919|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||197|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||825|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||753|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||579|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1408|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4063G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721244	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.64G>A|p.Gly22Arg|66/567|64/565|22/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2883G>A|p.Leu961Leu|2992/6351|2883/5517|961/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2883G>A|p.Leu961Leu|3024/6383|2883/5517|961/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2883G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2883G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||3975|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||253|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||881|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||809|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||523|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1352|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4119G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721252	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2875A>G|p.Met959Val|2984/6351|2875/5517|959/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2875A>G|p.Met959Val|3016/6383|2875/5517|959/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.56A>G|p.Asp19Gly|58/567|56/565|19/187||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2875A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2875A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||3983|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||261|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||889|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||817|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913A>G|||||515|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4127A>G||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721295	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.13G>A|p.Ala5Thr|15/567|13/565|5/187||WARNING_TRANSCRIPT_INCOMPLETE,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2832G>A|p.Ala944Ala|2941/6351|2832/5517|944/1838||,T|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2832G>A|p.Ala944Ala|2973/6383|2832/5517|944/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2832G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2832G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4026|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||304|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||932|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||860|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||472|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1301|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4170G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721296	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|18/37|c.2831C>T|p.Ala944Val|2940/6351|2831/5517|944/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|18/37|c.2831C>T|p.Ala944Val|2972/6383|2831/5517|944/1838||,A|synonymous_variant|LOW|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding|1/3|c.12C>T|p.Gly4Gly|14/567|12/565|4/187||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2831C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2831C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1C>T|||||4027|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||305|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||933|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||861|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913C>T|||||471|,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253C>T|||||1300|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4171C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721492	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|17/37|c.2803G>A|p.Val935Ile|2912/6351|2803/5517|935/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|17/37|c.2803G>A|p.Val935Ile|2944/6383|2803/5517|935/1838||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2803G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2803G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1G>A|||||4223|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1G>A|||||501|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1G>A|||||1129|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1G>A|||||1057|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3G>A|||||183|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913G>A|||||275|,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253G>A|||||1104|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620G>A|||||4924|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4367G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50721497	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|17/37|c.2798A>G|p.Asn933Ser|2907/6351|2798/5517|933/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|17/37|c.2798A>G|p.Asn933Ser|2939/6383|2798/5517|933/1838||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|17/37|c.2798A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_2|ENST00000359337|protein_coding|18/37|c.2798A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||4228|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||506|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||1134|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1062|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||188|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.*913A>G|||||270|,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||1099|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4919|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-4372A>G||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50722134	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|15/37|c.2467A>G|p.Ile823Val|2576/6351|2467/5517|823/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|15/37|c.2467A>G|p.Ile823Val|2608/6383|2467/5517|823/1838||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2467A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2467A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||4865|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||1143|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||1771|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1699|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||825|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||462|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4282|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-5009A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|7/8|n.702A>G||||||
22	50722167	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|15/37|c.2434A>G|p.Thr812Ala|2543/6351|2434/5517|812/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|15/37|c.2434A>G|p.Thr812Ala|2575/6383|2434/5517|812/1838||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|16/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|15/37|c.2434A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:IPT/TIG_1|ENST00000359337|protein_coding|14/37|c.2434A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479818|retained_intron||n.-1A>G|||||4898|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||1176|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||1804|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1732|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||858|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||429|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4249|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.203-5042A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|7/8|n.669A>G||||||
22	50722408	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|14/37|c.2275A>G|p.Asn759Asp|2384/6351|2275/5517|759/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|14/37|c.2275A>G|p.Asn759Asp|2416/6383|2275/5517|759/1838||,C|sequence_feature|MODERATE|PLXNB2|ENSG00000196576|glycosylation_site:N-linked__GlcNAc..._|ENST00000359337|protein_coding|14/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2275A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2275A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1A>G|||||1417|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1A>G|||||2045|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1A>G|||||1973|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3A>G|||||1099|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.*253A>G|||||188|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620A>G|||||4008|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+5007A>G||||||WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|6/8|n.510A>G||||||
22	50723013	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|12/37|c.2170C>T|p.Arg724Trp|2279/6351|2170/5517|724/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|12/37|c.2170C>T|p.Arg724Trp|2311/6383|2170/5517|724/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding|3/4|c.193C>T|p.Arg65Trp|195/253|193/251|65/82||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.2170C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.2170C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||2022|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||2650|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||2578|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||1704|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||3403|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+4402C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|4/8|n.374C>T||||||
22	50724666	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|9/37|c.1813C>T|p.Leu605Phe|1922/6351|1813/5517|605/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|9/37|c.1813C>T|p.Leu605Phe|1954/6383|1813/5517|605/1838||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1813C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1813C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000479701|retained_intron||n.-1C>T|||||3675|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000463165|retained_intron||n.-1C>T|||||4303|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000492578|retained_intron||n.-1C>T|||||4231|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000427829|protein_coding||c.-3C>T|||||3357|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||394|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding||c.*1620C>T|||||1750|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||3863|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+2749C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript|1/8|n.17C>T||||||
22	50727290	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|5/37|c.1262C>T|p.Thr421Ile|1371/6351|1262/5517|421/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|5/37|c.1262C>T|p.Thr421Ile|1403/6383|1262/5517|421/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|5/6|c.1262C>T|p.Thr421Ile|1451/1620|1262/1431|421/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1262C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1262C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||2608|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||3018|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||1239|WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+125C>T||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50727399	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/37|c.1241G>A|p.Arg414Gln|1350/6351|1241/5517|414/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/37|c.1241G>A|p.Arg414Gln|1382/6383|1241/5517|414/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/6|c.1241G>A|p.Arg414Gln|1430/1620|1241/1431|414/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1241G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1241G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||2717|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3127|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||1130|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/5|c.202+16G>A||||||WARNING_TRANSCRIPT_INCOMPLETE
22	50727513	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|4/37|c.1127G>A|p.Arg376His|1236/6351|1127/5517|376/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|4/37|c.1127G>A|p.Arg376His|1268/6383|1127/5517|376/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding|2/6|c.104G>A|p.Arg35His|104/704|104/704|35/233||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|4/6|c.1127G>A|p.Arg376His|1316/1620|1127/1431|376/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.1127G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.1127G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||2831|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3241|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||1016|WARNING_TRANSCRIPT_INCOMPLETE
22	50728062	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.952A>G|p.Lys318Glu|1061/6351|952/5517|318/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.952A>G|p.Lys318Glu|1093/6383|952/5517|318/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.952A>G|p.Lys318Glu|1141/1620|952/1431|318/476||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.952A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.952A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1A>G|||||72|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1A>G|||||3380|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3A>G|||||3790|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609A>G|||||467|WARNING_TRANSCRIPT_INCOMPLETE
22	50728170	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.844G>A|p.Ala282Thr|953/6351|844/5517|282/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.844G>A|p.Ala282Thr|985/6383|844/5517|282/1838||,T|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.844G>A|p.Ala282Thr|1033/1620|844/1431|282/476||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.844G>A||||||,T|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.844G>A||||||,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>A|||||180|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>A|||||3488|,T|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>A|||||3898|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>A|||||359|WARNING_TRANSCRIPT_INCOMPLETE
22	50728219	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.795G>C|p.Gln265His|904/6351|795/5517|265/1838||,G|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.795G>C|p.Gln265His|936/6383|795/5517|265/1838||,G|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.795G>C|p.Gln265His|984/1620|795/1431|265/476||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|3/37|c.795G>C||||||,G|sequence_feature|LOW|PLXNB2|ENSG00000196576|disulfide_bond|ENST00000359337|protein_coding|4/37|c.795G>C||||||,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1G>C|||||229|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1G>C|||||3537|,G|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3G>C|||||3947|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609G>C|||||310|WARNING_TRANSCRIPT_INCOMPLETE
22	50728355	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.659C>T|p.Ala220Val|768/6351|659/5517|220/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.659C>T|p.Ala220Val|800/6383|659/5517|220/1838||,A|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.659C>T|p.Ala220Val|848/1620|659/1431|220/476||WARNING_TRANSCRIPT_NO_STOP_CODON,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.659C>T||||||,A|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.659C>T||||||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1C>T|||||365|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1C>T|||||3673|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3C>T|||||4083|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609C>T|||||174|WARNING_TRANSCRIPT_INCOMPLETE
22	50728478	.	T	C	.	.	ANN=C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding|3/37|c.536A>G|p.Asn179Ser|645/6351|536/5517|179/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding|3/37|c.536A>G|p.Asn179Ser|677/6383|536/5517|179/1838||,C|missense_variant|MODERATE|PLXNB2|ENSG00000196576|transcript|ENST00000432455|protein_coding|3/6|c.536A>G|p.Asn179Ser|725/1620|536/1431|179/476||WARNING_TRANSCRIPT_NO_STOP_CODON,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|22/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|8/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|21/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|16/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|15/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|17/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|11/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|14/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|19/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|18/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|9/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|20/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|6/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|3/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|12/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|7/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|10/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|4/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|5/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|topological_domain:Extracellular|ENST00000359337|protein_coding|13/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|6/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|3/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|4/37|c.536A>G||||||,C|sequence_feature|LOW|PLXNB2|ENSG00000196576|domain:Sema|ENST00000359337|protein_coding|5/37|c.536A>G||||||,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000411680|protein_coding||c.-1A>G|||||488|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000496720|processed_transcript||n.-1A>G|||||3796|,C|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000434732|protein_coding||c.-3A>G|||||4206|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.*609A>G|||||51|WARNING_TRANSCRIPT_INCOMPLETE
22	50750573	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|20/20|c.1753C>T|p.Pro585Ser|1825/4939|1753/1758|585/585||,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000359337|protein_coding||c.-110C>T|||||4556|,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||2487|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000449103|protein_coding||c.-142C>T|||||4517|,A|upstream_gene_variant|MODIFIER|PLXNB2|ENSG00000196576|transcript|ENST00000425954|protein_coding||c.-125C>T|||||4541|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||2059|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||2678|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||4510|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|17/17|n.2272C>T||||||
22	50752105	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|15/20|c.1252C>T|p.Arg418Trp|1324/4939|1252/1758|418/585||,A|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1G>A|||||955|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990C>T|||||527|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920C>T|||||1146|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||2978|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|12/17|n.1771C>T||||||
22	50752150	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|15/20|c.1207G>A|p.Val403Met|1279/4939|1207/1758|403/585||,T|upstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.-1C>T|||||910|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.*990G>A|||||482|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding||c.*920G>A|||||1101|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||2933|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|12/17|n.1726G>A||||||
22	50753262	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|10/20|c.847G>A|p.Asp283Asn|919/4939|847/1758|283/585||,T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|10/10|c.883G>A|p.Asp295Asn|909/920|883/894|295/297||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||1821|,T|non_coding_exon_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/2|n.203C>T||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|8/17|n.1038G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|10/13|n.695G>A||||||
22	50754170	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|9/20|c.731C>T|p.Ala244Val|803/4939|731/1758|244/585||,A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|9/10|c.767C>T|p.Ala256Val|793/920|767/894|256/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||913|,A|intron_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense|1/1|n.448-184G>A||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|7/17|n.922C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|9/13|n.579C>T||||||
22	50754512	.	C	T	.	.	ANN=T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|8/20|c.644G>A|p.Arg215His|716/4939|644/1758|215/585||,T|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|8/10|c.680G>A|p.Arg227His|706/920|680/894|227/297||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>T|||||75|,T|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>A|||||571|,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.835G>A||||||,T|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|8/13|n.492G>A||||||
22	50754649	.	G	A	.	.	ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|7/20|c.593C>T|p.Ala198Val|665/4939|593/1758|198/585||,A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|7/10|c.629C>T|p.Ala210Val|655/920|629/894|210/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531G>A|||||212|,A|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529C>T|||||434|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.698C>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|7/13|n.441C>T||||||
22	50754874	.	C	G	.	.	ANN=G|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|6/20|c.484G>C|p.Val162Leu|556/4939|484/1758|162/585||,G|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|6/10|c.520G>C|p.Val174Leu|546/920|520/894|174/297||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>G|||||437|,G|downstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.*529G>C|||||209|,G|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|6/17|n.473G>C||||||,G|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|6/13|n.332G>C||||||
22	50756413	.	C	A	.	.	ANN=A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|4/20|c.296G>T|p.Arg99Leu|368/4939|296/1758|99/585||,A|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|3/10|c.185G>T|p.Arg62Leu|211/920|185/894|62/297||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531C>A|||||1976|,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|4/17|n.285G>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron|3/13|n.83G>T||||||,A|non_coding_exon_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron|2/4|n.161G>T||||||
22	50757470	.	T	C	.	.	ANN=C|missense_variant|MODERATE|DENND6B|ENSG00000205593|transcript|ENST00000433760|protein_coding|1/10|c.29A>G|p.Asp10Gly|55/920|29/894|10/297||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000471942|retained_intron||n.-1A>G|||||74|,C|upstream_gene_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000460087|retained_intron||n.-1A>G|||||71|,C|downstream_gene_variant|MODIFIER|XX-C283C717.1|ENSG00000227484|transcript|ENST00000453835|antisense||n.*531T>C|||||3033|,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000413817|protein_coding|1/19|c.178-38A>G||||||,C|intron_variant|MODIFIER|DENND6B|ENSG00000205593|transcript|ENST00000495607|retained_intron|1/16|n.167-38A>G||||||
22	50832366	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|4/25|c.29C>T|p.Thr10Met|399/3415|29/2901|10/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|3/23|c.29C>T|p.Thr10Met|423/4030|29/2784|10/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|3/23|c.29C>T|p.Thr10Met|404/3304|29/2802|10/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|3/23|c.29C>T|p.Thr10Met|396/3293|29/2799|10/932||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000238604|transcript|ENST00000459259|misc_RNA||n.-1C>T|||||4883|
22	50853008	.	A	G	.	.	ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/25|c.442A>G|p.Lys148Glu|812/3415|442/2901|148/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/23|c.442A>G|p.Lys148Glu|836/4030|442/2784|148/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/23|c.442A>G|p.Lys148Glu|817/3304|442/2802|148/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/23|c.442A>G|p.Lys148Glu|809/3293|442/2799|148/932||,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2A>G|||||4863|
22	50853021	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/25|c.455T>A|p.Leu152Gln|825/3415|455/2901|152/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/23|c.455T>A|p.Leu152Gln|849/4030|455/2784|152/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/23|c.455T>A|p.Leu152Gln|830/3304|455/2802|152/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/23|c.455T>A|p.Leu152Gln|822/3293|455/2799|152/932||,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2T>A|||||4850|
22	50853095	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|6/25|c.529G>A|p.Gly177Arg|899/3415|529/2901|177/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|5/23|c.529G>A|p.Gly177Arg|923/4030|529/2784|177/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|5/23|c.529G>A|p.Gly177Arg|904/3304|529/2802|177/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|5/23|c.529G>A|p.Gly177Arg|896/3293|529/2799|177/932||,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2G>A|||||4776|
22	50857832	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|9/25|c.786G>T|p.Glu262Asp|1156/3415|786/2901|262/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|8/23|c.786G>T|p.Glu262Asp|1180/4030|786/2784|262/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|8/23|c.789G>T|p.Glu263Asp|1164/3304|789/2802|263/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|8/23|c.786G>T|p.Glu262Asp|1153/3293|786/2799|262/932||,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding||c.-2G>T|||||39|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding||c.-2G>T|||||4202|WARNING_TRANSCRIPT_NO_START_CODON
22	50869692	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1216G>C|p.Glu406Gln|1586/3415|1216/2901|406/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1216G>C|p.Glu406Gln|1610/4030|1216/2784|406/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1219G>C|p.Glu407Gln|1594/3304|1219/2802|407/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1216G>C|p.Glu406Gln|1583/3293|1216/2799|406/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.391G>C|p.Glu131Gln|392/2199|391/2055|131/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.100G>C|p.Glu34Gln|101/1811|100/1686|34/561||WARNING_TRANSCRIPT_NO_START_CODON
22	50869761	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1285G>A|p.Glu429Lys|1655/3415|1285/2901|429/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1285G>A|p.Glu429Lys|1679/4030|1285/2784|429/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1288G>A|p.Glu430Lys|1663/3304|1288/2802|430/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1285G>A|p.Glu429Lys|1652/3293|1285/2799|429/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.460G>A|p.Glu154Lys|461/2199|460/2055|154/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.169G>A|p.Glu57Lys|170/1811|169/1686|57/561||WARNING_TRANSCRIPT_NO_START_CODON
22	50869776	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1300G>T|p.Ala434Ser|1670/3415|1300/2901|434/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1300G>T|p.Ala434Ser|1694/4030|1300/2784|434/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1303G>T|p.Ala435Ser|1678/3304|1303/2802|435/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1300G>T|p.Ala434Ser|1667/3293|1300/2799|434/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.475G>T|p.Ala159Ser|476/2199|475/2055|159/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.184G>T|p.Ala62Ser|185/1811|184/1686|62/561||WARNING_TRANSCRIPT_NO_START_CODON
22	50869795	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|12/25|c.1319A>C|p.Asn440Thr|1689/3415|1319/2901|440/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|11/23|c.1319A>C|p.Asn440Thr|1713/4030|1319/2784|440/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|11/23|c.1322A>C|p.Asn441Thr|1697/3304|1322/2802|441/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|11/23|c.1319A>C|p.Asn440Thr|1686/3293|1319/2799|440/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|4/17|c.494A>C|p.Asn165Thr|495/2199|494/2055|165/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|2/14|c.203A>C|p.Asn68Thr|204/1811|203/1686|68/561||WARNING_TRANSCRIPT_NO_START_CODON
22	50873415	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1421G>A|p.Arg474His|1791/3415|1421/2901|474/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1421G>A|p.Arg474His|1815/4030|1421/2784|474/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1424G>A|p.Arg475His|1799/3304|1424/2802|475/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1421G>A|p.Arg474His|1788/3293|1421/2799|474/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.596G>A|p.Arg199His|597/2199|596/2055|199/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.305G>A|p.Arg102His|306/1811|305/1686|102/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||4767|
22	50873450	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1456G>T|p.Ala486Ser|1826/3415|1456/2901|486/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1456G>T|p.Ala486Ser|1850/4030|1456/2784|486/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1459G>T|p.Ala487Ser|1834/3304|1459/2802|487/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1456G>T|p.Ala486Ser|1823/3293|1456/2799|486/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.631G>T|p.Ala211Ser|632/2199|631/2055|211/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.340G>T|p.Ala114Ser|341/1811|340/1686|114/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>T|||||4732|
22	50873451	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|14/25|c.1457C>T|p.Ala486Val|1827/3415|1457/2901|486/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|13/23|c.1457C>T|p.Ala486Val|1851/4030|1457/2784|486/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|13/23|c.1460C>T|p.Ala487Val|1835/3304|1460/2802|487/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|13/23|c.1457C>T|p.Ala486Val|1824/3293|1457/2799|486/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|6/17|c.632C>T|p.Ala211Val|633/2199|632/2055|211/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|4/14|c.341C>T|p.Ala114Val|342/1811|341/1686|114/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||4731|
22	50874850	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/25|c.1571C>T|p.Thr524Met|1941/3415|1571/2901|524/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/23|c.1571C>T|p.Thr524Met|1965/4030|1571/2784|524/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/23|c.1574C>T|p.Thr525Met|1949/3304|1574/2802|525/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/23|c.1571C>T|p.Thr524Met|1938/3293|1571/2799|524/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/17|c.746C>T|p.Thr249Met|747/2199|746/2055|249/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/14|c.455C>T|p.Thr152Met|456/1811|455/1686|152/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||3332|
22	50874873	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|15/25|c.1594G>A|p.Val532Met|1964/3415|1594/2901|532/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|14/23|c.1594G>A|p.Val532Met|1988/4030|1594/2784|532/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|14/23|c.1597G>A|p.Val533Met|1972/3304|1597/2802|533/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|14/23|c.1594G>A|p.Val532Met|1961/3293|1594/2799|532/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|7/17|c.769G>A|p.Val257Met|770/2199|769/2055|257/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|5/14|c.478G>A|p.Val160Met|479/1811|478/1686|160/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||3309|
22	50876640	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/25|c.1877G>A|p.Arg626His|2247/3415|1877/2901|626/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/23|c.1796G>A|p.Arg599His|2190/4030|1796/2784|599/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/23|c.1799G>A|p.Arg600His|2174/3304|1799/2802|600/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/23|c.1796G>A|p.Arg599His|2163/3293|1796/2799|599/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/17|c.1052G>A|p.Arg351His|1053/2199|1052/2055|351/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/14|c.680G>A|p.Arg227His|681/1811|680/1686|227/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1G>A|||||1542|,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||4876|
22	50876662	.	T	G	.	.	ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/25|c.1899T>G|p.Asp633Glu|2269/3415|1899/2901|633/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/23|c.1818T>G|p.Asp606Glu|2212/4030|1818/2784|606/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/23|c.1821T>G|p.Asp607Glu|2196/3304|1821/2802|607/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/23|c.1818T>G|p.Asp606Glu|2185/3293|1818/2799|606/932||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/17|c.1074T>G|p.Asp358Glu|1075/2199|1074/2055|358/684||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/14|c.702T>G|p.Asp234Glu|703/1811|702/1686|234/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1T>G|||||1520|,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>G|||||4854|
22	50876708	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|19/25|c.1945C>T|p.Arg649Trp|2315/3415|1945/2901|649/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|17/23|c.1864C>T|p.Arg622Trp|2258/4030|1864/2784|622/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|17/23|c.1867C>T|p.Arg623Trp|2242/3304|1867/2802|623/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|17/23|c.1864C>T|p.Arg622Trp|2231/3293|1864/2799|622/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|11/17|c.1120C>T|p.Arg374Trp|1121/2199|1120/2055|374/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|8/14|c.748C>T|p.Arg250Trp|749/1811|748/1686|250/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1474|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4808|
22	50877144	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2081C>T|p.Pro694Leu|2451/3415|2081/2901|694/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2000C>T|p.Pro667Leu|2394/4030|2000/2784|667/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2003C>T|p.Pro668Leu|2378/3304|2003/2802|668/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2000C>T|p.Pro667Leu|2367/3293|2000/2799|667/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1256C>T|p.Pro419Leu|1257/2199|1256/2055|419/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.884C>T|p.Pro295Leu|885/1811|884/1686|295/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>T|||||1038|,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||4372|
22	50877156	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2093A>C|p.Lys698Thr|2463/3415|2093/2901|698/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2012A>C|p.Lys671Thr|2406/4030|2012/2784|671/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2015A>C|p.Lys672Thr|2390/3304|2015/2802|672/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2012A>C|p.Lys671Thr|2379/3293|2012/2799|671/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1268A>C|p.Lys423Thr|1269/2199|1268/2055|423/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.896A>C|p.Lys299Thr|897/1811|896/1686|299/561||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1A>C|||||1026|,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1A>C|||||4360|
22	50877170	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|20/25|c.2107C>G|p.Pro703Ala|2477/3415|2107/2901|703/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|18/23|c.2026C>G|p.Pro676Ala|2420/4030|2026/2784|676/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|18/23|c.2029C>G|p.Pro677Ala|2404/3304|2029/2802|677/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|18/23|c.2026C>G|p.Pro676Ala|2393/3293|2026/2799|676/932||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|12/17|c.1282C>G|p.Pro428Ala|1283/2199|1282/2055|428/684||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|9/14|c.910C>G|p.Pro304Ala|911/1811|910/1686|304/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.-1C>G|||||1012|,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>G|||||4346|
22	50878183	.	C	G	.	.	ANN=G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2182C>G|p.Pro728Ala|2552/3415|2182/2901|728/966||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2104C>G|p.Pro702Ala|2498/4030|2104/2784|702/927||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2104C>G|p.Pro702Ala|2479/3304|2104/2802|702/933||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2101C>G|p.Pro701Ala|2468/3293|2101/2799|701/932||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1357C>G|p.Pro453Ala|1358/2199|1357/2055|453/684||,G|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.988C>G|p.Pro330Ala|989/1811|988/1686|330/561||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>G|||||3333|,G|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.2C>G||||||
22	50878196	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|21/25|c.2195G>A|p.Arg732Lys|2565/3415|2195/2901|732/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|19/23|c.2117G>A|p.Arg706Lys|2511/4030|2117/2784|706/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|19/23|c.2117G>A|p.Arg706Lys|2492/3304|2117/2802|706/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|19/23|c.2114G>A|p.Arg705Lys|2481/3293|2114/2799|705/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|13/17|c.1370G>A|p.Arg457Lys|1371/2199|1370/2055|457/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|10/14|c.1001G>A|p.Arg334Lys|1002/1811|1001/1686|334/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||3320|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.15G>A||||||
22	50878409	.	T	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2305T>A|p.Cys769Ser|2675/3415|2305/2901|769/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2227T>A|p.Cys743Ser|2621/4030|2227/2784|743/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2227T>A|p.Cys743Ser|2602/3304|2227/2802|743/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2224T>A|p.Cys742Ser|2591/3293|2224/2799|742/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1480T>A|p.Cys494Ser|1481/2199|1480/2055|494/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1111T>A|p.Cys371Ser|1112/1811|1111/1686|371/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1T>A|||||3107|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.228T>A||||||
22	50878419	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2315C>T|p.Pro772Leu|2685/3415|2315/2901|772/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2237C>T|p.Pro746Leu|2631/4030|2237/2784|746/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2237C>T|p.Pro746Leu|2612/3304|2237/2802|746/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2234C>T|p.Pro745Leu|2601/3293|2234/2799|745/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1490C>T|p.Pro497Leu|1491/2199|1490/2055|497/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1121C>T|p.Pro374Leu|1122/1811|1121/1686|374/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||3097|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.238C>T||||||
22	50878449	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|22/25|c.2345G>A|p.Gly782Asp|2715/3415|2345/2901|782/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|20/23|c.2267G>A|p.Gly756Asp|2661/4030|2267/2784|756/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|20/23|c.2267G>A|p.Gly756Asp|2642/3304|2267/2802|756/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|20/23|c.2264G>A|p.Gly755Asp|2631/3293|2264/2799|755/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|14/17|c.1520G>A|p.Gly507Asp|1521/2199|1520/2055|507/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|11/14|c.1151G>A|p.Gly384Asp|1152/1811|1151/1686|384/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||3067|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||4980|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|1/2|n.268G>A||||||
22	50879257	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2402C>T|p.Pro801Leu|2772/3415|2402/2901|801/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2303C>T|p.Pro768Leu|2697/4030|2303/2784|768/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2303C>T|p.Pro768Leu|2678/3304|2303/2802|768/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2300C>T|p.Pro767Leu|2667/3293|2300/2799|767/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1556C>T|p.Pro519Leu|1557/2199|1556/2055|519/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1187C>T|p.Pro396Leu|1188/1811|1187/1686|396/561||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1C>T|||||2259|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||4172|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.304C>T||||||
22	50879346	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2491G>A|p.Glu831Lys|2861/3415|2491/2901|831/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2392G>A|p.Glu798Lys|2786/4030|2392/2784|798/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2392G>A|p.Glu798Lys|2767/3304|2392/2802|798/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2389G>A|p.Glu797Lys|2756/3293|2389/2799|797/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1645G>A|p.Glu549Lys|1646/2199|1645/2055|549/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1276G>A|p.Glu426Lys|1277/1811|1276/1686|426/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||2170|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||4083|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.393G>A||||||
22	50879355	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2500G>A|p.Asp834Asn|2870/3415|2500/2901|834/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2401G>A|p.Asp801Asn|2795/4030|2401/2784|801/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2401G>A|p.Asp801Asn|2776/3304|2401/2802|801/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2398G>A|p.Asp800Asn|2765/3293|2398/2799|800/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1654G>A|p.Asp552Asn|1655/2199|1654/2055|552/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1285G>A|p.Asp429Asn|1286/1811|1285/1686|429/561||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>A|||||2161|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||4074|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.402G>A||||||
22	50879373	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|23/25|c.2518G>C|p.Ala840Pro|2888/3415|2518/2901|840/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|21/23|c.2419G>C|p.Ala807Pro|2813/4030|2419/2784|807/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|21/23|c.2419G>C|p.Ala807Pro|2794/3304|2419/2802|807/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|21/23|c.2416G>C|p.Ala806Pro|2783/3293|2416/2799|806/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|15/17|c.1672G>C|p.Ala558Pro|1673/2199|1672/2055|558/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|12/14|c.1303G>C|p.Ala435Pro|1304/1811|1303/1686|435/561||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron||n.-1G>C|||||2143|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>G|||||4056|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron|2/2|n.420G>C||||||
22	50882314	.	C	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2620C>T|p.Arg874Trp|2990/3415|2620/2901|874/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2521C>T|p.Arg841Trp|2915/4030|2521/2784|841/927||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2521C>T|p.Arg841Trp|2896/3304|2521/2802|841/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2518C>T|p.Arg840Trp|2885/3293|2518/2799|840/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1774C>T|p.Arg592Trp|1775/2199|1774/2055|592/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1405C>T|p.Arg469Trp|1406/1811|1405/1686|469/561||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>A|||||1115|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>T|||||2811|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>A|||||2921|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>A|||||2925|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>A|||||2941|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>A|||||3198|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>A|||||3257|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.799C>T||||||
22	50882317	.	C	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2623C>A|p.Leu875Met|2993/3415|2623/2901|875/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2524C>A|p.Leu842Met|2918/4030|2524/2784|842/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2524C>A|p.Leu842Met|2899/3304|2524/2802|842/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2521C>A|p.Leu841Met|2888/3293|2521/2799|841/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1777C>A|p.Leu593Met|1778/2199|1777/2055|593/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1408C>A|p.Leu470Met|1409/1811|1408/1686|470/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866G>T|||||1112|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550C>A|||||2814|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709G>T|||||2918|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246G>T|||||2922|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139G>T|||||2938|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446G>T|||||3195|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789G>T|||||3254|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.802C>A||||||
22	50882323	.	A	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2629A>C|p.Ser877Arg|2999/3415|2629/2901|877/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2530A>C|p.Ser844Arg|2924/4030|2530/2784|844/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2530A>C|p.Ser844Arg|2905/3304|2530/2802|844/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2527A>C|p.Ser843Arg|2894/3293|2527/2799|843/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1783A>C|p.Ser595Arg|1784/2199|1783/2055|595/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1414A>C|p.Ser472Arg|1415/1811|1414/1686|472/561||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866T>G|||||1106|,C|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550A>C|||||2820|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709T>G|||||2912|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246T>G|||||2916|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139T>G|||||2932|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446T>G|||||3189|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789T>G|||||3248|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.808A>C||||||
22	50882338	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2644G>A|p.Ala882Thr|3014/3415|2644/2901|882/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2545G>A|p.Ala849Thr|2939/4030|2545/2784|849/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2545G>A|p.Ala849Thr|2920/3304|2545/2802|849/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2542G>A|p.Ala848Thr|2909/3293|2542/2799|848/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1798G>A|p.Ala600Thr|1799/2199|1798/2055|600/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1429G>A|p.Ala477Thr|1430/1811|1429/1686|477/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||1091|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>A|||||2835|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>T|||||2897|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>T|||||2901|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>T|||||2917|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>T|||||3174|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>T|||||3233|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.823G>A||||||
22	50882368	.	G	A	.	.	ANN=A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2674G>A|p.Val892Met|3044/3415|2674/2901|892/966||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2575G>A|p.Val859Met|2969/4030|2575/2784|859/927||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2575G>A|p.Val859Met|2950/3304|2575/2802|859/933||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2572G>A|p.Val858Met|2939/3293|2572/2799|858/932||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1828G>A|p.Val610Met|1829/2199|1828/2055|610/684||,A|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1459G>A|p.Val487Met|1460/1811|1459/1686|487/561||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>T|||||1061|,A|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>A|||||2865|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>T|||||2867|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>T|||||2871|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>T|||||2887|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>T|||||3144|,A|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>T|||||3203|,A|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.853G>A||||||
22	50882428	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|24/25|c.2734G>C|p.Ala912Pro|3104/3415|2734/2901|912/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|22/23|c.2635G>C|p.Ala879Pro|3029/4030|2635/2784|879/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|22/23|c.2635G>C|p.Ala879Pro|3010/3304|2635/2802|879/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|22/23|c.2632G>C|p.Ala878Pro|2999/3293|2632/2799|878/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|16/17|c.1888G>C|p.Ala630Pro|1889/2199|1888/2055|630/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|13/14|c.1519G>C|p.Ala507Pro|1520/1811|1519/1686|507/561||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>G|||||1001|,C|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>C|||||2925|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>G|||||2807|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>G|||||2811|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>G|||||2827|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>G|||||3084|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>G|||||3143|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|1/2|n.913G>C||||||
22	50882635	.	G	C	.	.	ANN=C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|25/25|c.2860G>C|p.Asp954His|3230/3415|2860/2901|954/966||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|23/23|c.2757G>C|p.Gln919His|3151/4030|2757/2784|919/927||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|23/23|c.2761G>C|p.Asp921His|3136/3304|2761/2802|921/933||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|23/23|c.2758G>C|p.Asp920His|3125/3293|2758/2799|920/932||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|17/17|c.2014G>C|p.Asp672His|2015/2199|2014/2055|672/684||,C|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|14/14|c.1645G>C|p.Asp549His|1646/1811|1645/1686|549/561||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>G|||||794|,C|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>C|||||3132|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>G|||||2600|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>G|||||2604|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>G|||||2620|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>G|||||2877|,C|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>G|||||2936|,C|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|2/2|n.1039G>C||||||
22	50882671	.	G	T	.	.	ANN=T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000216061|protein_coding|25/25|c.2896G>T|p.Val966Leu|3266/3415|2896/2901|966/966||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395741|protein_coding|23/23|c.2797G>T|p.Val933Leu|3172/3304|2797/2802|933/933||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000395744|protein_coding|23/23|c.2794G>T|p.Val932Leu|3161/3293|2794/2799|932/932||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000401672|protein_coding|17/17|c.2050G>T|p.Val684Leu|2051/2199|2050/2055|684/684||,T|missense_variant|MODERATE|PPP6R2|ENSG00000100239|transcript|ENST00000427222|protein_coding|14/14|c.1681G>T|p.Val561Leu|1682/1811|1681/1686|561/561||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000359139|protein_coding|23/23|c.*9G>T|||||9|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000380817|protein_coding||c.*5866C>A|||||758|,T|downstream_gene_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000473283|retained_intron||n.*550G>T|||||3168|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000348911|protein_coding||c.*5709C>A|||||2564|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000418590|protein_coding||c.*1246C>A|||||2568|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000470434|retained_intron||n.*2139C>A|||||2584|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000473724|retained_intron||n.*446C>A|||||2841|,T|downstream_gene_variant|MODIFIER|SBF1|ENSG00000100241|transcript|ENST00000390679|protein_coding||c.*5789C>A|||||2900|,T|non_coding_exon_variant|MODIFIER|PPP6R2|ENSG00000100239|transcript|ENST00000470046|retained_intron|2/2|n.1075G>T||||||
22	50921076	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.191G>A|p.Arg64Gln|483/4276|191/447|64/148||,A|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.191G>A|p.Arg64Gln|242/535|191/447|64/148||,A|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.191G>A||||||,A|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.191G>A||||||,A|5_prime_UTR_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.-60G>A|||||60|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75G>A|||||4177|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115G>A|||||4137|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23G>A|||||4229|,A|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1G>A|||||4738|WARNING_TRANSCRIPT_NO_START_CODON
22	50921129	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding|2/2|c.244C>T|p.Leu82Phe|536/4276|244/447|82/148||,T|missense_variant|MODERATE|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding|3/3|c.244C>T|p.Leu82Phe|295/535|244/447|82/148||,T|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|3/3|c.244C>T||||||,T|sequence_feature|LOW|ADM2|ENSG00000128165|maturation_peptide|ENST00000395737|protein_coding|2/3|c.244C>T||||||,T|5_prime_UTR_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding|2/2|c.-7C>T|||||7|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding||c.-75C>T|||||4124|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding||c.-115C>T|||||4084|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding||c.-23C>T|||||4176|,T|upstream_gene_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding||c.-1C>T|||||4685|WARNING_TRANSCRIPT_NO_START_CODON
22	50926366	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.229G>A|p.Val77Met|303/1130|229/858|77/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.229G>A|p.Val77Met|343/1021|229/696|77/231||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.229G>A|p.Val77Met|251/1658|229/813|77/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.214G>A|p.Val72Met|214/918|214/798|72/265||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.229G>A||||||,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|4/8|c.229G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||1500|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||1497|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395737|protein_coding||c.*498G>A|||||4997|
22	50926439	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.302A>G|p.Gln101Arg|376/1130|302/858|101/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.302A>G|p.Gln101Arg|416/1021|302/696|101/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.302A>G|p.Gln101Arg|324/1658|302/813|101/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.287A>G|p.Gln96Arg|287/918|287/798|96/265||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|4/10|c.302A>G||||||,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000395733|protein_coding|4/8|c.302A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||1573|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||1570|
22	50926466	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|4/10|c.329A>G|p.His110Arg|403/1130|329/858|110/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|4/8|c.329A>G|p.His110Arg|443/1021|329/696|110/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|4/10|c.329A>G|p.His110Arg|351/1658|329/813|110/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|3/9|c.314A>G|p.His105Arg|314/918|314/798|105/265||WARNING_TRANSCRIPT_NO_START_CODON,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||1600|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||1597|
22	50926731	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/10|c.368A>G|p.His123Arg|442/1130|368/858|123/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/8|c.400A>G|p.Thr134Ala|514/1021|400/696|134/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/10|c.368A>G|p.His123Arg|390/1658|368/813|123/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/9|c.353A>G|p.His118Arg|353/918|353/798|118/265||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MIOX|ENSG00000100253|metal_ion-binding_site:Iron_1|ENST00000216075|protein_coding|5/10|c.368A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||1865|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||1862|
22	50926765	.	G	T	.	.	ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/10|c.402G>T|p.Glu134Asp|476/1130|402/858|134/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/8|c.434G>T|p.Ser145Ile|548/1021|434/696|145/231||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/10|c.402G>T|p.Glu134Asp|424/1658|402/813|134/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/9|c.387G>T|p.Glu129Asp|387/918|387/798|129/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>T|||||1899|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>T|||||1896|
22	50926768	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|5/8|c.437C>T|p.Pro146Leu|551/1021|437/696|146/231||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|5/10|c.405C>T|p.Pro135Pro|479/1130|405/858|135/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|5/10|c.405C>T|p.Pro135Pro|427/1658|405/813|135/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|4/9|c.390C>T|p.Pro130Pro|390/918|390/798|130/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||1902|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||1899|
22	50927545	.	A	T	.	.	ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|6/10|c.485A>T|p.Gln162Leu|559/1130|485/858|162/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|6/8|c.517A>T|p.Arg173Trp|631/1021|517/696|173/231||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|6/10|c.485A>T|p.Gln162Leu|507/1658|485/813|162/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|5/9|c.425A>T|p.Gln142Leu|425/918|425/798|142/265||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>T|||||2679|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>T|||||2676|
22	50927563	.	A	G	.	.	ANN=G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|6/10|c.503A>G|p.Gln168Arg|577/1130|503/858|168/285||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|6/8|c.535A>G|p.Arg179Gly|649/1021|535/696|179/231||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|6/10|c.503A>G|p.Gln168Arg|525/1658|503/813|168/270||,G|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|5/9|c.443A>G|p.Gln148Arg|443/918|443/798|148/265||WARNING_TRANSCRIPT_NO_START_CODON,G|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|6/10|c.503A>G||||||,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214A>G|||||2697|,G|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739A>G|||||2694|
22	50927693	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/8|c.587C>T|p.Ser196Leu|701/1021|587/696|196/231||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|7/10|c.555C>T|p.Leu185Leu|629/1130|555/858|185/285||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|7/10|c.555C>T|p.Leu185Leu|577/1658|555/813|185/270||,T|synonymous_variant|LOW|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|6/9|c.495C>T|p.Leu165Leu|495/918|495/798|165/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|7/10|c.555C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||2827|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||2824|
22	50927870	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|8/10|c.631C>T|p.Pro211Ser|705/1130|631/858|211/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|8/10|c.631C>T|p.Pro211Ser|653/1658|631/813|211/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|7/9|c.571C>T|p.Pro191Ser|571/918|571/798|191/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.631C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.631C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3004|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3001|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.618+146C>T||||||
22	50927976	.	C	T	.	.	ANN=T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.652C>T|p.Arg218Trp|726/1130|652/858|218/285||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.652C>T|p.Arg218Trp|674/1658|652/813|218/270||,T|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.592C>T|p.Arg198Trp|592/918|592/798|198/265||WARNING_TRANSCRIPT_NO_START_CODON,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|8/10|c.652C>T||||||,T|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|9/10|c.652C>T||||||,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214C>T|||||3110|,T|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739C>T|||||3107|,T|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-201C>T||||||
22	50928010	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.686G>A|p.Arg229His|760/1130|686/858|229/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.686G>A|p.Arg229His|708/1658|686/813|229/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.626G>A|p.Arg209His|626/918|626/798|209/265||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3144|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3141|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-167G>A||||||
22	50928012	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|9/10|c.688G>A|p.Asp230Asn|762/1130|688/858|230/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|9/10|c.688G>A|p.Asp230Asn|710/1658|688/813|230/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|8/9|c.628G>A|p.Asp210Asn|628/918|628/798|210/265||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3146|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3143|,A|intron_variant|MODIFIER|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|7/7|c.619-165G>A||||||
22	50928217	.	G	A	.	.	ANN=A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000216075|protein_coding|10/10|c.790G>A|p.Val264Met|864/1130|790/858|264/285||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395733|protein_coding|8/8|c.659G>A|p.Arg220His|773/1021|659/696|220/231||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000395732|protein_coding|10/10|c.776G>A|p.Arg259His|798/1658|776/813|259/270||,A|missense_variant|MODERATE|MIOX|ENSG00000100253|transcript|ENST00000451761|protein_coding|9/9|c.730G>A|p.Val244Met|730/918|730/798|244/265||WARNING_TRANSCRIPT_NO_START_CODON,A|sequence_feature|LOW|MIOX|ENSG00000100253|helix|ENST00000216075|protein_coding|10/10|c.790G>A||||||,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000362068|protein_coding||c.*1214G>A|||||3351|,A|downstream_gene_variant|MODIFIER|ADM2|ENSG00000128165|transcript|ENST00000395738|protein_coding||c.*739G>A|||||3348|
22	50956026	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/20|c.287C>T|p.Ser96Leu|365/1996|287/1821|96/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/20|c.287C>T|p.Ser96Leu|409/2037|287/1818|96/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/9|c.287C>T|p.Ser96Leu|382/1388|287/900|96/299||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/19|c.287C>T|p.Ser96Leu|381/2077|287/1770|96/589||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/10|c.185C>T|p.Ser62Leu|277/970|185/878|62/291||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000299821|protein_coding|4/20|c.287C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000420993|protein_coding|4/20|c.287C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000395698|protein_coding|4/9|c.287C>T||||||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*153C>T|||||1125|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*153C>T|||||1125|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||1950|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||2813|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||4928|,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*153C>T||||||,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*153C>T||||||
22	50956071	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|4/20|c.332C>G|p.Pro111Arg|410/1996|332/1821|111/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|4/20|c.332C>G|p.Pro111Arg|454/2037|332/1818|111/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|4/9|c.332C>G|p.Pro111Arg|427/1388|332/900|111/299||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|4/19|c.332C>G|p.Pro111Arg|426/2077|332/1770|111/589||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|3/10|c.230C>G|p.Pro77Arg|322/970|230/878|77/291||WARNING_TRANSCRIPT_INCOMPLETE,G|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*198C>G|||||1170|,G|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*198C>G|||||1170|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||1905|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||2768|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||4883|,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|4/7|n.*198C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|5/7|n.*198C>G||||||
22	50956174	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|5/20|c.356T>C|p.Leu119Pro|434/1996|356/1821|119/606||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|5/20|c.356T>C|p.Leu119Pro|478/2037|356/1818|119/605||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|5/9|c.356T>C|p.Leu119Pro|451/1388|356/900|119/299||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|5/19|c.356T>C|p.Leu119Pro|450/2077|356/1770|119/589||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|4/10|c.254T>C|p.Leu85Pro|346/970|254/878|85/291||WARNING_TRANSCRIPT_INCOMPLETE,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/7|n.*222T>C|||||1273|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/7|n.*222T>C|||||1273|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1T>C|||||1802|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1T>C|||||2665|,C|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3T>C|||||4780|,C|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|5/7|n.*222T>C||||||,C|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay|6/7|n.*222T>C||||||
22	50956614	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|7/20|c.553G>A|p.Val185Ile|631/1996|553/1821|185/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|7/20|c.553G>A|p.Val185Ile|675/2037|553/1818|185/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|7/9|c.553G>A|p.Val185Ile|648/1388|553/900|185/299||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|7/19|c.553G>A|p.Val185Ile|647/2077|553/1770|185/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|6/10|c.451G>A|p.Val151Ile|543/970|451/878|151/291||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*419G>A|||||1713|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||1362|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||2225|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||4340|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||127|,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay|7/7|n.*419G>A||||||
22	50957143	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/20|c.712G>A|p.Gly238Ser|790/1996|712/1821|238/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/20|c.712G>A|p.Gly238Ser|834/2037|712/1818|238/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/9|c.712G>A|p.Gly238Ser|807/1388|712/900|238/299||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/19|c.712G>A|p.Gly238Ser|806/2077|712/1770|238/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/10|c.610G>A|p.Gly204Ser|702/970|610/878|204/291||WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1G>A|||||833|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1G>A|||||1696|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||3811|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||4882|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||438|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||656|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||4854|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||4854|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||4854|
22	50957150	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|8/20|c.719C>G|p.Ser240Cys|797/1996|719/1821|240/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|8/20|c.719C>G|p.Ser240Cys|841/2037|719/1818|240/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|8/9|c.719C>G|p.Ser240Cys|814/1388|719/900|240/299||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|8/19|c.719C>G|p.Ser240Cys|813/2077|719/1770|240/589||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|7/10|c.617C>G|p.Ser206Cys|709/970|617/878|206/291||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||826|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||1689|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||3804|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||4875|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||445|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||663|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||4847|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||4847|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||4847|
22	50957625	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|9/20|c.737C>G|p.Ser246Cys|815/1996|737/1821|246/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|9/20|c.737C>G|p.Ser246Cys|859/2037|737/1818|246/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|9/9|c.737C>G|p.Ser246Cys|832/1388|737/900|246/299||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|9/19|c.737C>G|p.Ser246Cys|831/2077|737/1770|246/589||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|8/10|c.635C>G|p.Ser212Cys|727/970|635/878|212/291||WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||4730|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>G|||||351|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>G|||||1214|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||3329|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||4400|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||920|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||1138|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||4372|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||4372|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||4372|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||4806|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||4806|WARNING_TRANSCRIPT_INCOMPLETE
22	50957733	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|9/20|c.845C>T|p.Ser282Phe|923/1996|845/1821|282/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|9/20|c.845C>T|p.Ser282Phe|967/2037|845/1818|282/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding|9/9|c.845C>T|p.Ser282Phe|940/1388|845/900|282/299||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|9/19|c.845C>T|p.Ser282Phe|939/2077|845/1770|282/589||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding|8/10|c.743C>T|p.Ser248Phe|835/970|743/878|248/291||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000299821|protein_coding|9/20|c.845C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000420993|protein_coding|9/20|c.845C>T||||||,T|sequence_feature|MODERATE|NCAPH2|ENSG00000025770|amino_acid_modification:Phosphoserine|ENST00000395698|protein_coding|9/9|c.845C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||4622|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.-1C>T|||||243|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.-1C>T|||||1106|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||3221|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||4292|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||1028|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||1246|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||4264|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||4264|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||4264|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||4698|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||4698|WARNING_TRANSCRIPT_INCOMPLETE
22	50960191	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1022C>G|p.Pro341Arg|1100/1996|1022/1821|341/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1022C>G|p.Pro341Arg|1144/2037|1022/1818|341/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1022C>G|p.Pro341Arg|1116/2077|1022/1770|341/589||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||2164|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||763|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||1834|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||3990|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||2010|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||3486|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||173|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||3704|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||1806|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||1806|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||1806|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||2240|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||2240|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||3990|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||3990|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||3993|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||3994|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||3995|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||4023|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.252C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.716C>G||||||
22	50960220	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1051C>T|p.Arg351Cys|1129/1996|1051/1821|351/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1051C>T|p.Arg351Cys|1173/2037|1051/1818|351/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1051C>T|p.Arg351Cys|1145/2077|1051/1770|351/589||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||2135|,T|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>T|||||734|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||1805|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||3961|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||2039|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||3515|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||202|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>T|||||3733|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||1777|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||1777|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||1777|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||2211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||2211|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||3961|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||3961|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||3964|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||3965|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||3966|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||3994|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.281C>T||||||,T|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.745C>T||||||
22	50960235	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|12/20|c.1066G>A|p.Ala356Thr|1144/1996|1066/1821|356/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|12/20|c.1066G>A|p.Ala356Thr|1188/2037|1066/1818|356/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|12/19|c.1066G>A|p.Ala356Thr|1160/2077|1066/1770|356/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||2120|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||719|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1790|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3946|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2054|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3530|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||217|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3748|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1762|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1762|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1762|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||2196|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||2196|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3946|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3946|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3949|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3950|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3951|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3979|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|4/7|n.296G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|3/7|n.760G>A||||||
22	50960434	.	C	G	.	.	ANN=G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1128C>G|p.Ser376Arg|1206/1996|1128/1821|376/606||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1128C>G|p.Ser376Arg|1250/2037|1128/1818|376/605||,G|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1128C>G|p.Ser376Arg|1222/2077|1128/1770|376/589||,G|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>G|||||1921|,G|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3C>G|||||520|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>C|||||1591|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||3747|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||2253|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>G|||||3729|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||416|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268C>G|||||3947|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>C|||||1563|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>C|||||1563|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>C|||||1563|,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>C|||||1997|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>C|||||1997|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||3747|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||3747|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||3750|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||3751|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||3752|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||3780|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.358C>G||||||,G|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.822C>G||||||
22	50960439	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1133G>A|p.Arg378Gln|1211/1996|1133/1821|378/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1133G>A|p.Arg378Gln|1255/2037|1133/1818|378/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1133G>A|p.Arg378Gln|1227/2077|1133/1770|378/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1916|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||515|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1586|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3742|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2258|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3734|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||421|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3952|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1558|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1558|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1558|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1992|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1992|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3742|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3742|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3745|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3746|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3747|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3775|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.363G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.827G>A||||||
22	50960445	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|13/20|c.1139G>A|p.Arg380Gln|1217/1996|1139/1821|380/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|13/20|c.1139G>A|p.Arg380Gln|1261/2037|1139/1818|380/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|13/19|c.1139G>A|p.Arg380Gln|1233/2077|1139/1770|380/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1910|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||509|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1580|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3736|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2264|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||3740|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||427|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||3958|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1552|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1552|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1552|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1986|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1986|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3736|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3736|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3739|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3740|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3741|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3769|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|5/7|n.369G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|4/7|n.833G>A||||||
22	50960791	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|15/20|c.1253G>A|p.Arg418Gln|1331/1996|1253/1821|418/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|15/20|c.1253G>A|p.Arg418Gln|1375/2037|1253/1818|418/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|15/19|c.1253G>A|p.Arg418Gln|1347/2077|1253/1770|418/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1564|,A|upstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.-3G>A|||||163|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1234|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3390|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2610|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4086|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||773|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4304|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1206|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1206|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1206|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1640|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3390|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3390|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3393|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3394|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3395|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3423|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript|7/7|n.483G>A||||||,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|6/7|n.947G>A||||||
22	50960965	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/20|c.1345G>A|p.Glu449Lys|1423/1996|1345/1821|449/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/20|c.1342G>A|p.Glu448Lys|1464/2037|1342/1818|448/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/19|c.1342G>A|p.Glu448Lys|1436/2077|1342/1770|448/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/5|c.10G>A|p.Glu4Lys|12/521|10/423|4/140||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1390|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1060|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3216|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2784|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4260|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||947|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4478|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||118|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1032|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1032|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1032|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1466|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1466|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3216|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3216|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3219|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3220|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3221|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3249|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|7/7|n.1036G>A||||||
22	50960989	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|16/20|c.1369G>A|p.Ala457Thr|1447/1996|1369/1821|457/606||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|16/20|c.1366G>A|p.Ala456Thr|1488/2037|1366/1818|456/605||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|16/19|c.1366G>A|p.Ala456Thr|1460/2077|1366/1770|456/589||,A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|1/5|c.34G>A|p.Ala12Thr|36/521|34/423|12/140||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||1366|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||1036|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||3192|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||2808|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4284|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||971|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000418794|nonsense_mediated_decay||n.*268G>A|||||4502|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||142|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||1008|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||1008|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||1008|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||1442|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||1442|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||3192|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||3192|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||3195|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||3196|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||3197|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||3225|WARNING_TRANSCRIPT_NO_STOP_CODON,A|non_coding_exon_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron|7/7|n.1060G>A||||||
22	50961503	.	C	T	.	.	ANN=T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/20|c.1588C>T|p.Pro530Ser|1666/1996|1588/1821|530/606||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/20|c.1585C>T|p.Pro529Ser|1707/2037|1585/1818|529/605||,T|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1585C>T|p.Pro529Ser|1679/2077|1585/1770|529/589||,T|splice_region_variant&intron_variant|LOW|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|3/4|c.196-6C>T||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||852|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977G>A|||||522|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2678|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3322|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210C>T|||||4798|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||1485|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||656|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||505|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949G>A|||||494|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959G>A|||||494|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008G>A|||||494|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||928|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||928|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2678|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2678|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2681|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2682|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2683|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2711|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4718|
22	50961521	.	T	C	.	.	ANN=C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/20|c.1606T>C|p.Cys536Arg|1684/1996|1606/1821|536/606||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/20|c.1603T>C|p.Cys535Arg|1725/2037|1603/1818|535/605||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1603T>C|p.Cys535Arg|1697/2077|1603/1770|535/589||,C|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|4/5|c.208T>C|p.Cys70Arg|210/521|208/423|70/140||,C|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1T>C|||||834|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977A>G|||||504|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586A>G|||||2660|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995T>C|||||3340|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210T>C|||||4816|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970T>C|||||1503|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539T>C|||||674|,C|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069T>C|||||523|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949A>G|||||476|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959A>G|||||476|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008A>G|||||476|,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568A>G|||||910|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617A>G|||||910|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590A>G|||||2660|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612A>G|||||2660|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751A>G|||||2663|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600A>G|||||2664|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572A>G|||||2665|,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432A>G|||||2693|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049A>G|||||4700|
22	50961614	.	G	A	.	.	ANN=A|missense_variant|MODERATE|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding|19/19|c.1696G>A|p.Val566Met|1790/2077|1696/1770|566/589||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||741|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.*977C>T|||||411|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2567|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3433|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000518394|nonsense_mediated_decay||n.*210G>A|||||4909|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||1596|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||767|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||616|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.*949C>T|||||383|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.*959C>T|||||383|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.*1008C>T|||||383|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||817|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||817|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2567|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2567|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2570|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2571|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2572|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2600|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4607|,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding|19/19|c.1680+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding|19/19|c.1677+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding|4/4|c.282+19G>A||||||
22	50962057	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.784C>T|p.Arg262Cys|960/992|784/801|262/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.784C>T|p.Arg262Cys|932/992|784/801|262/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.784C>T|p.Arg262Cys|942/1002|784/801|262/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.784C>T|p.Arg262Cys|991/1051|784/801|262/266||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||298|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||156|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2124|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||156|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3876|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||156|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2039|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1210|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1059|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||157|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||374|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||374|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2124|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2124|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2127|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2128|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2129|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2157|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4164|
22	50962065	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.776C>T|p.Ala259Val|952/992|776/801|259/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.776C>T|p.Ala259Val|924/992|776/801|259/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.776C>T|p.Ala259Val|934/1002|776/801|259/266||,A|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.776C>T|p.Ala259Val|983/1051|776/801|259/266||,A|sequence_feature|LOW|SCO2|ENSG00000130489|helix|ENST00000395693|protein_coding|2/2|c.776C>T||||||,A|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.776C>T||||||,A|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1G>A|||||290|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||164|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586C>T|||||2116|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||164|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995G>A|||||3884|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||164|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||2047|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||1218|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||1067|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||165|,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568C>T|||||366|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617C>T|||||366|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590C>T|||||2116|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612C>T|||||2116|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751C>T|||||2119|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600C>T|||||2120|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572C>T|||||2121|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432C>T|||||2149|WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||4156|
22	50962117	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.724G>A|p.Gly242Ser|900/992|724/801|242/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.724G>A|p.Gly242Ser|872/992|724/801|242/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.724G>A|p.Gly242Ser|882/1002|724/801|242/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.724G>A|p.Gly242Ser|931/1051|724/801|242/266||,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.724G>A||||||,T|sequence_feature|LOW|SCO2|ENSG00000130489|beta_strand|ENST00000395693|protein_coding|2/2|c.724G>A||||||,T|upstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.-1C>T|||||238|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||216|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||2064|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||216|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||3936|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||216|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||2099|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1270|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1119|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||217|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||314|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||314|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||2064|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||2064|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||2067|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||2068|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||2069|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||2097|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||4104|
22	50962381	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.460G>A|p.Glu154Lys|636/992|460/801|154/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.460G>A|p.Glu154Lys|608/992|460/801|154/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.460G>A|p.Glu154Lys|618/1002|460/801|154/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.460G>A|p.Glu154Lys|667/1051|460/801|154/266||,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.460G>A||||||,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||480|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||1800|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||480|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||4200|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||480|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||2363|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1534|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1383|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||481|,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.*568G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.*617G>A|||||50|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||1800|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||1800|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||1803|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||1804|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||1805|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||1833|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||3840|,T|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.27C>T||||||
22	50962463	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.378G>A|p.Met126Ile|554/992|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.378G>A|p.Met126Ile|526/992|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.378G>A|p.Met126Ile|536/1002|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.378G>A|p.Met126Ile|585/1051|378/801|126/266||,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.378G>A|p.Met126Ile|536/568|378/410|126/135||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.378G>A|p.Met126Ile|585/617|378/410|126/135||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.378G>A||||||,T|sequence_feature|LOW|SCO2|ENSG00000130489|beta_strand|ENST00000395693|protein_coding|2/2|c.378G>A||||||,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||562|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>A|||||1718|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||562|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>T|||||4282|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||562|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||2445|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||1616|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||1465|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||563|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>A|||||1718|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>A|||||1718|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>A|||||1721|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>A|||||1722|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>A|||||1723|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>A|||||1751|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||3758|,T|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.109C>T||||||
22	50962560	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.281T>C|p.Leu94Pro|457/992|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.281T>C|p.Leu94Pro|429/992|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.281T>C|p.Leu94Pro|439/1002|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.281T>C|p.Leu94Pro|488/1051|281/801|94/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.281T>C|p.Leu94Pro|439/568|281/410|94/135||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.281T>C|p.Leu94Pro|488/617|281/410|94/135||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SCO2|ENSG00000130489|domain:Thioredoxin|ENST00000395693|protein_coding|2/2|c.281T>C||||||,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899A>G|||||659|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586T>C|||||1621|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940A>G|||||659|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995A>G|||||4379|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864A>G|||||659|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970A>G|||||2542|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539A>G|||||1713|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069A>G|||||1562|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425A>G|||||660|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590T>C|||||1621|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612T>C|||||1621|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751T>C|||||1624|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600T>C|||||1625|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572T>C|||||1626|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432T>C|||||1654|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049T>C|||||3661|,G|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.206A>G||||||
22	50962782	.	C	G	.	.	ANN=G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding|2/2|c.59G>C|p.Arg20Pro|235/992|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding|2/2|c.59G>C|p.Arg20Pro|207/992|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|2/2|c.59G>C|p.Arg20Pro|217/1002|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|2/2|c.59G>C|p.Arg20Pro|266/1051|59/801|20/266||,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|2/2|c.59G>C|p.Arg20Pro|217/568|59/410|20/135||WARNING_TRANSCRIPT_INCOMPLETE,G|missense_variant|MODERATE|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|2/2|c.59G>C|p.Arg20Pro|266/617|59/410|20/135||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|SCO2|ENSG00000130489|transit_peptide:Mitochondrion|ENST00000395693|protein_coding|2/2|c.59G>C||||||,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>G|||||881|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.*1586G>C|||||1399|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>G|||||881|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395698|protein_coding||c.*995C>G|||||4601|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>G|||||881|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>G|||||2764|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>G|||||1935|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>G|||||1784|,G|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>G|||||882|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.*1590G>C|||||1399|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.*1612G>C|||||1399|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.*1751G>C|||||1402|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.*1600G>C|||||1403|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.*1572G>C|||||1404|,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.*1432G>C|||||1432|WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>C|||||3439|,G|non_coding_exon_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense|1/1|n.428C>G||||||
22	50964236	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|10/10|c.1427C>T|p.Ser476Leu|1549/1604|1427/1464|476/487||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|10/10|c.1412C>T|p.Ser471Leu|1553/1608|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|10/10|c.1412C>T|p.Ser471Leu|1575/1630|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|10/10|c.1412C>T|p.Ser471Leu|1563/1614|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|9/9|c.1313C>T|p.Ser438Leu|1410/1432|1313/1335|438/444||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177C>T|||||203|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149C>T|||||201|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899G>A|||||2335|,A|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855G>A|||||1027|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916C>T|||||4634|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940G>A|||||2335|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864G>A|||||2335|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970G>A|||||4218|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539G>A|||||3389|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069G>A|||||3238|,A|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425G>A|||||2336|,A|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049C>T|||||1985|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722C>T|||||3903|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836C>T|||||4602|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899C>T|||||4602|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589C>T|||||4619|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762C>T|||||4673|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753C>T|||||4732|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636C>T|||||4831|,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/1|c.-14+194C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+439C>T||||||,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/1|c.-14+194C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+439C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|9/9|n.1699C>T||||||,A|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|8/8|n.1522C>T||||||
22	50964255	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|10/10|c.1408G>A|p.Ala470Thr|1530/1604|1408/1464|470/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|10/10|c.1393G>A|p.Ala465Thr|1534/1608|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|10/10|c.1393G>A|p.Ala465Thr|1556/1630|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|10/10|c.1393G>A|p.Ala465Thr|1544/1614|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|9/9|c.1294G>A|p.Ala432Thr|1391/1432|1294/1335|432/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||222|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||220|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000299821|protein_coding||c.*1899C>T|||||2354|,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||1046|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||4615|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000420993|protein_coding||c.*1940C>T|||||2354|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000395701|protein_coding||c.*1864C>T|||||2354|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000523045|protein_coding||c.*970C>T|||||4237|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000520297|processed_transcript||n.*539C>T|||||3408|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522048|retained_intron||n.*1069C>T|||||3257|,T|downstream_gene_variant|MODIFIER|NCAPH2|ENSG00000025770|transcript|ENST00000522304|protein_coding||c.*425C>T|||||2355|,T|downstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.*2049G>A|||||1966|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||3884|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||4583|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||4583|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||4600|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||4654|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||4713|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||4812|,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding|1/1|c.-14+175G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding|1/1|c.-14+420G>A||||||,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding|1/1|c.-14+175G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding|1/1|c.-14+420G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|9/9|n.1680G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|8/8|n.1503G>A||||||
22	50967020	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/10|c.437G>A|p.Arg146His|559/1604|437/1464|146/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/10|c.437G>A|p.Arg146His|578/1608|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/10|c.437G>A|p.Arg146His|600/1630|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/10|c.437G>A|p.Arg146His|588/1614|437/1449|146/482||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||2987|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||2985|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||2446|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2152|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||2446|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2152|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||3811|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1850|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||1119|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1818|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1818|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1835|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1889|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1948|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||2047|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||3154|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+545G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/9|n.724G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/8|n.562G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1250G>A||||||
22	50967024	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|4/10|c.433G>A|p.Gly145Arg|555/1604|433/1464|145/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|4/10|c.433G>A|p.Gly145Arg|574/1608|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|4/10|c.433G>A|p.Gly145Arg|596/1630|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|4/10|c.433G>A|p.Gly145Arg|584/1614|433/1449|145/482||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||2991|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||2989|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||2450|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2156|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||2450|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2156|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||3815|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1846|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||1115|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1814|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1814|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1831|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1885|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1944|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||2043|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||3150|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/8|c.417+541G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|3/9|n.720G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|4/8|n.558G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.1246G>A||||||
22	50967666	.	C	G	.	.	ANN=G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|3/10|c.316G>C|p.Glu106Gln|438/1604|316/1464|106/487||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|3/10|c.316G>C|p.Glu106Gln|457/1608|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|3/10|c.316G>C|p.Glu106Gln|479/1630|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|3/10|c.316G>C|p.Glu106Gln|467/1614|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/9|c.316G>C|p.Glu106Gln|413/1432|316/1335|106/444||WARNING_TRANSCRIPT_NO_STOP_CODON,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.316G>C||||||,G|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.316G>C||||||,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>C|||||3633|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>C|||||3631|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>C|||||3092|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>C|||||2798|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>C|||||3092|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>C|||||2798|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>G|||||4457|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>C|||||1204|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>C|||||473|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>C|||||1172|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>C|||||1172|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>C|||||1189|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>C|||||1243|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>C|||||1302|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>C|||||1401|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>C|||||2508|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|2/9|n.603G>C||||||,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|3/8|n.441G>C||||||,G|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.604G>C||||||
22	50967740	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding|3/10|c.242G>A|p.Arg81Gln|364/1604|242/1464|81/487||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding|3/10|c.242G>A|p.Arg81Gln|383/1608|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding|3/10|c.242G>A|p.Arg81Gln|405/1630|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding|3/10|c.242G>A|p.Arg81Gln|393/1614|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding|3/9|c.242G>A|p.Arg81Gln|339/1432|242/1335|81/444||WARNING_TRANSCRIPT_NO_STOP_CODON,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|3/10|c.242G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395681|protein_coding|2/10|c.242G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|3/10|c.242G>A||||||,T|sequence_feature|LOW|TYMP|ENSG00000025708|helix|ENST00000395680|protein_coding|2/10|c.242G>A||||||,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000252785|protein_coding||c.-177G>A|||||3707|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000395693|protein_coding||c.-149G>A|||||3705|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||3166|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||2872|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||3166|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||2872|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CTA-384D8.36|ENSG00000272821|transcript|ENST00000608319|antisense||n.*855C>T|||||4531|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding||c.*916G>A|||||1130|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron||n.*1722G>A|||||399|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding||c.*836G>A|||||1098|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding||c.*899G>A|||||1098|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding||c.*589G>A|||||1115|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding||c.*762G>A|||||1169|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.*753G>A|||||1228|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron||n.*636G>A|||||1327|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||2434|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron|2/9|n.529G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron|3/8|n.367G>A||||||,T|non_coding_exon_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron|2/2|n.530G>A||||||
22	50969450	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|4/6|c.502G>A|p.Ala168Thr|572/917|502/846|168/281||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|4/6|c.385G>A|p.Ala129Thr|492/869|385/729|129/242||,T|synonymous_variant|LOW|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|5/7|c.456G>A|p.Pro152Pro|593/970|456/762|152/253||,T|synonymous_variant|LOW|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|3/5|c.252G>A|p.Pro84Pro|283/643|252/558|84/185||,T|synonymous_variant|LOW|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|4/6|c.456G>A|p.Pro152Pro|456/762|456/762|152/253||,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>A|||||1006|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000535425|protein_coding||c.-159G>A|||||4876|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>A|||||4582|,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000439934|protein_coding||c.-159G>A|||||4876|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>A|||||4582|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>A|||||1022|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>A|||||965|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>A|||||1025|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>A|||||989|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>A|||||1003|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>A|||||1031|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>A|||||1009|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||724|WARNING_TRANSCRIPT_NO_STOP_CODON,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|2/4|n.670G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|2/2|n.271G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|3/3|n.253G>A||||||
22	50969647	.	C	G	.	.	ANN=G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|3/6|c.437G>C|p.Gly146Ala|507/917|437/846|146/281||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|3/6|c.320G>C|p.Gly107Ala|427/869|320/729|107/242||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|4/7|c.391G>C|p.Gly131Arg|528/970|391/762|131/253||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|2/5|c.187G>C|p.Gly63Arg|218/643|187/558|63/185||,G|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|3/6|c.391G>C|p.Gly131Arg|391/762|391/762|131/253||,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>C|||||1203|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208G>C|||||4779|,G|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208G>C|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>C|||||1219|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>C|||||1162|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>C|||||1222|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>C|||||1186|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>C|||||1200|,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>C|||||1228|WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>C|||||1206|,G|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>C|||||527|WARNING_TRANSCRIPT_NO_STOP_CODON,G|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.605G>C||||||,G|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|1/2|n.206G>C||||||,G|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|2/3|n.188G>C||||||
22	50969752	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|3/6|c.332C>G|p.Ala111Gly|402/917|332/846|111/281||,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>G|||||1308|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>G|||||4884|,C|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>G|||||4884|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>G|||||1324|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>G|||||1267|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>G|||||1327|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>G|||||1291|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>G|||||1305|,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>G|||||1333|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>G|||||1311|,C|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>G|||||422|WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|2/5|c.243-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|3/6|c.314-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.110-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|2/5|c.314-28C>G||||||,C|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|1/2|n.111-28C>G||||||,C|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.500C>G||||||,C|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|1/2|n.101C>G||||||
22	50969765	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|3/6|c.319C>T|p.His107Tyr|389/917|319/846|107/281||,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123C>T|||||1321|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000543927|protein_coding||c.-208C>T|||||4897|,A|upstream_gene_variant|MODIFIER|SCO2|ENSG00000130489|transcript|ENST00000423348|protein_coding||c.-208C>T|||||4897|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142C>T|||||1337|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164C>T|||||1280|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1C>T|||||1340|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152C>T|||||1304|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1C>T|||||1318|,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98C>T|||||1346|WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1C>T|||||1324|,A|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276C>T|||||409|WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|2/5|c.243-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|3/6|c.314-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.110-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|2/5|c.314-41C>T||||||,A|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|1/2|n.111-41C>T||||||,A|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.487C>T||||||,A|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron|1/2|n.88C>T||||||
22	50970068	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000405135|protein_coding|2/6|c.244G>A|p.Asp82Asn|314/917|244/846|82/281||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000401779|protein_coding|2/6|c.173G>A|p.Arg58Gln|280/869|173/729|58/242||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000329363|protein_coding|3/7|c.244G>A|p.Asp82Asn|381/970|244/762|82/253||,T|missense_variant|MODERATE|ODF3B|ENSG00000177989|transcript|ENST00000428989|protein_coding|2/6|c.244G>A|p.Asp82Asn|244/762|244/762|82/253||,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395681|protein_coding||c.-123G>A|||||1624|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395680|protein_coding||c.-142G>A|||||1640|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000252029|protein_coding||c.-164G>A|||||1583|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487577|retained_intron||n.-1G>A|||||1643|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000395678|protein_coding||c.-152G>A|||||1607|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000476284|retained_intron||n.-1G>A|||||1621|,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000425169|protein_coding||c.-98G>A|||||1649|WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TYMP|ENSG00000025708|transcript|ENST00000487162|retained_intron||n.-1G>A|||||1627|,T|upstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000463472|retained_intron||n.-1G>A|||||216|,T|downstream_gene_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000437588|protein_coding||c.*276G>A|||||106|WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000403326|protein_coding|1/4|c.109+330G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000468249|retained_intron|1/4|n.184G>A||||||,T|non_coding_exon_variant|MODIFIER|ODF3B|ENSG00000177989|transcript|ENST00000469660|retained_intron|1/3|n.41G>A||||||
22	50987175	.	G	T	.	.	ANN=T|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.580G>T|p.Val194Leu|714/2990|580/1785|194/594||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>T|||||1094|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>A|||||2451|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>A|||||2366|
22	50987287	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.692A>G|p.Gln231Arg|826/2990|692/1785|231/594||,G|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157A>G|||||1206|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294T>C|||||2339|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315T>C|||||2254|
22	50987353	.	T	C	.	.	ANN=C|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.758T>C|p.Val253Ala|892/2990|758/1785|253/594||,C|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157T>C|||||1272|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294A>G|||||2273|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315A>G|||||2188|
22	50987601	.	A	T	.	.	ANN=T|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1006A>T|p.Thr336Ser|1140/2990|1006/1785|336/594||,T|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_1|ENST00000395676|protein_coding|1/1|c.1006A>T||||||,T|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157A>T|||||1520|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294T>A|||||2025|,T|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315T>A|||||1940|
22	50987859	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1264G>A|p.Asp422Asn|1398/2990|1264/1785|422/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_3|ENST00000395676|protein_coding|1/1|c.1264G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||1778|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1767|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1682|
22	50988105	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1510G>A|p.Val504Met|1644/2990|1510/1785|504/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1510G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||2024|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1521|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1436|
22	50988141	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1546G>A|p.Gly516Ser|1680/2990|1546/1785|516/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1546G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||2060|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1485|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1400|
22	50988183	.	G	A	.	.	ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1588G>A|p.Ala530Thr|1722/2990|1588/1785|530/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1588G>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157G>A|||||2102|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294C>T|||||1443|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315C>T|||||1358|
22	50988192	.	C	A	.	.	ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1597C>A|p.His533Asn|1731/2990|1597/1785|533/594||,A|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1597C>A||||||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>A|||||2111|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>T|||||1434|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>T|||||1349|
22	50988193	.	A	G	.	.	ANN=G|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1598A>G|p.His533Arg|1732/2990|1598/1785|533/594||,G|sequence_feature|LOW|KLHDC7B|ENSG00000130487|repeat:Kelch_5|ENST00000395676|protein_coding|1/1|c.1598A>G||||||,G|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157A>G|||||2112|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294T>C|||||1433|,G|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315T>C|||||1348|
22	50988352	.	C	A	.	.	ANN=A|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1757C>A|p.Pro586His|1891/2990|1757/1785|586/594||,A|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157C>A|||||2271|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294G>T|||||1274|,A|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315G>T|||||1189|
22	50988376	.	T	C	.	.	ANN=C|missense_variant|MODERATE|KLHDC7B|ENSG00000130487|transcript|ENST00000395676|protein_coding|1/1|c.1781T>C|p.Leu594Pro|1915/2990|1781/1785|594/594||,C|downstream_gene_variant|MODIFIER|CTA-384D8.31|ENSG00000226738|transcript|ENST00000434237|antisense||n.*157T>C|||||2295|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000402753|protein_coding||c.*294A>G|||||1250|,C|downstream_gene_variant|MODIFIER|SYCE3|ENSG00000217442|transcript|ENST00000406915|protein_coding||c.*315A>G|||||1165|
22	51007847	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|19/20|c.2239G>A|p.Ala747Thr|2290/2592|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|18/19|c.2239G>A|p.Ala747Thr|2344/2647|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|19/19|c.2239G>A|p.Ala747Thr|2377/2933|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|19/20|c.1996G>A|p.Ala666Thr|2134/2436|1996/2076|666/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|18/19|c.2137G>A|p.Ala713Thr|2275/2577|2137/2217|713/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|21/22|c.1624G>A|p.Ala542Thr|2584/2753|1624/1704|542/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|19/19|c.2239G>A|p.Ala747Thr|2328/2662|2239/2319|747/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2239G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2239G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/23|n.*2464G>A|||||9763|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806G>A|||||930|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||2465|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||3457|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||4947|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|26/27|n.4442G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|22/23|n.*2464G>A||||||
22	51008045	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/20|c.2195T>C|p.Ile732Thr|2246/2592|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/19|c.2195T>C|p.Ile732Thr|2300/2647|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/19|c.2195T>C|p.Ile732Thr|2333/2933|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/20|c.1952T>C|p.Ile651Thr|2090/2436|1952/2076|651/691||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/19|c.2093T>C|p.Ile698Thr|2231/2577|2093/2217|698/738||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/22|c.1580T>C|p.Ile527Thr|2540/2753|1580/1704|527/567||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/19|c.2195T>C|p.Ile732Thr|2284/2662|2195/2319|732/772||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2195T>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2195T>C||||||,G|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2420T>C|||||9565|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806T>C|||||732|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572T>C|||||2267|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279T>C|||||3259|,G|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545T>C|||||4749|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/27|n.4398T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2420T>C||||||
22	51008048	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/20|c.2192C>T|p.Thr731Met|2243/2592|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/19|c.2192C>T|p.Thr731Met|2297/2647|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/19|c.2192C>T|p.Thr731Met|2330/2933|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/20|c.1949C>T|p.Thr650Met|2087/2436|1949/2076|650/691||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/19|c.2090C>T|p.Thr697Met|2228/2577|2090/2217|697/738||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/22|c.1577C>T|p.Thr526Met|2537/2753|1577/1704|526/567||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/19|c.2192C>T|p.Thr731Met|2281/2662|2192/2319|731/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2192C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2192C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2417C>T|||||9562|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806C>T|||||729|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||2264|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||3256|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||4746|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/27|n.4395C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2417C>T||||||
22	51008055	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|18/20|c.2185G>A|p.Glu729Lys|2236/2592|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|17/19|c.2185G>A|p.Glu729Lys|2290/2647|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|18/19|c.2185G>A|p.Glu729Lys|2323/2933|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|18/20|c.1942G>A|p.Glu648Lys|2080/2436|1942/2076|648/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|17/19|c.2083G>A|p.Glu695Lys|2221/2577|2083/2217|695/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|20/22|c.1570G>A|p.Glu524Lys|2530/2753|1570/1704|524/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|18/19|c.2185G>A|p.Glu729Lys|2274/2662|2185/2319|729/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2185G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2185G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2410G>A|||||9555|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.*806G>A|||||722|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||2257|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||3249|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||4739|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|25/27|n.4388G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|21/23|n.*2410G>A||||||
22	51008816	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|17/20|c.2048G>A|p.Arg683His|2099/2592|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|16/19|c.2048G>A|p.Arg683His|2153/2647|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|17/19|c.2048G>A|p.Arg683His|2186/2933|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|17/20|c.1805G>A|p.Arg602His|1943/2436|1805/2076|602/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|16/19|c.1946G>A|p.Arg649His|2084/2577|1946/2217|649/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|19/22|c.1433G>A|p.Arg478His|2393/2753|1433/1704|478/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|17/19|c.2048G>A|p.Arg683His|2137/2662|2048/2319|683/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.2048G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.2048G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/23|n.*2273G>A|||||8794|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||1496|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||2488|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||3978|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|24/27|n.4251G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|20/23|n.*2273G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|5/5|n.767G>A||||||
22	51009371	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|16/20|c.1977C>G|p.Cys659Trp|2028/2592|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|15/19|c.1977C>G|p.Cys659Trp|2082/2647|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|16/19|c.1977C>G|p.Cys659Trp|2115/2933|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|16/20|c.1734C>G|p.Cys578Trp|1872/2436|1734/2076|578/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|15/19|c.1875C>G|p.Cys625Trp|2013/2577|1875/2217|625/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|18/22|c.1362C>G|p.Cys454Trp|2322/2753|1362/1704|454/567||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|16/19|c.1977C>G|p.Cys659Trp|2066/2662|1977/2319|659/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1977C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1977C>G||||||,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2202C>G|||||8239|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>G|||||941|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>G|||||1933|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||3423|,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|23/27|n.4180C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2202C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|4/5|n.696C>G||||||
22	51009468	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|16/20|c.1880C>A|p.Ala627Glu|1931/2592|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|15/19|c.1880C>A|p.Ala627Glu|1985/2647|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|16/19|c.1880C>A|p.Ala627Glu|2018/2933|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|16/20|c.1637C>A|p.Ala546Glu|1775/2436|1637/2076|546/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|15/19|c.1778C>A|p.Ala593Glu|1916/2577|1778/2217|593/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|18/22|c.1265C>A|p.Ala422Glu|2225/2753|1265/1704|422/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|16/19|c.1880C>A|p.Ala627Glu|1969/2662|1880/2319|627/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1880C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1880C>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2105C>A|||||8142|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>A|||||844|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>A|||||1836|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>A|||||3326|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|23/27|n.4083C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|19/23|n.*2105C>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|4/5|n.599C>A||||||
22	51009624	.	G	A	.	.	ANN=A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|15/20|c.1838C>T|p.Thr613Ile|1889/2592|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|14/19|c.1838C>T|p.Thr613Ile|1943/2647|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|15/19|c.1838C>T|p.Thr613Ile|1976/2933|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|15/20|c.1595C>T|p.Thr532Ile|1733/2436|1595/2076|532/691||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|14/19|c.1736C>T|p.Thr579Ile|1874/2577|1736/2217|579/738||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|17/22|c.1223C>T|p.Thr408Ile|2183/2753|1223/1704|408/567||,A|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|15/19|c.1838C>T|p.Thr613Ile|1927/2662|1838/2319|613/772||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1838C>T||||||,A|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1838C>T||||||,A|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/23|n.*2063C>T|||||7986|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572C>T|||||688|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279C>T|||||1680|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>T|||||3170|,A|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>T|||||4861|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|22/27|n.4041C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|18/23|n.*2063C>T||||||,A|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.557C>T||||||
22	51009856	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1688G>A|p.Arg563Gln|1739/2592|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1688G>A|p.Arg563Gln|1793/2647|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1688G>A|p.Arg563Gln|1826/2933|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1445G>A|p.Arg482Gln|1583/2436|1445/2076|482/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1586G>A|p.Arg529Gln|1724/2577|1586/2217|529/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.1073G>A|p.Arg358Gln|2033/2753|1073/1704|358/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1688G>A|p.Arg563Gln|1777/2662|1688/2319|563/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|region_of_interest:Coenzyme_A_binding|ENST00000312108|protein_coding|14/20|c.1688G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|region_of_interest:Coenzyme_A_binding|ENST00000440709|protein_coding|14/20|c.1445G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|region_of_interest:Coenzyme_A_binding|ENST00000457250|protein_coding|13/19|c.1586G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1913G>A|||||7754|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||456|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1448|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2938|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4629|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3896G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1913G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.325G>A||||||
22	51009938	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1606G>A|p.Val536Met|1657/2592|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1606G>A|p.Val536Met|1711/2647|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1606G>A|p.Val536Met|1744/2933|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1363G>A|p.Val455Met|1501/2436|1363/2076|455/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1504G>A|p.Val502Met|1642/2577|1504/2217|502/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.991G>A|p.Val331Met|1951/2753|991/1704|331/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1606G>A|p.Val536Met|1695/2662|1606/2319|536/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1606G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1606G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1831G>A|||||7672|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||374|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1366|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2856|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4547|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3814G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1831G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.243G>A||||||
22	51009953	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|14/20|c.1591G>A|p.Glu531Lys|1642/2592|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|13/19|c.1591G>A|p.Glu531Lys|1696/2647|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|14/19|c.1591G>A|p.Glu531Lys|1729/2933|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|14/20|c.1348G>A|p.Glu450Lys|1486/2436|1348/2076|450/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|13/19|c.1489G>A|p.Glu497Lys|1627/2577|1489/2217|497/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|16/22|c.976G>A|p.Glu326Lys|1936/2753|976/1704|326/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|14/19|c.1591G>A|p.Glu531Lys|1680/2662|1591/2319|531/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1591G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1591G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1816G>A|||||7657|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.*572G>A|||||359|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.*279G>A|||||1351|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||2841|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||4532|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|21/27|n.3799G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|17/23|n.*1816G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron|3/5|n.228G>A||||||
22	51011376	.	G	C	.	.	ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|11/20|c.1280C>G|p.Ser427Cys|1331/2592|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|10/19|c.1280C>G|p.Ser427Cys|1385/2647|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|11/19|c.1280C>G|p.Ser427Cys|1418/2933|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|10/19|c.1178C>G|p.Ser393Cys|1316/2577|1178/2217|393/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|13/22|c.671C>G|p.Ser224Cys|1631/2753|671/1704|224/567||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|11/19|c.1280C>G|p.Ser427Cys|1369/2662|1280/2319|427/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1280C>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1280C>G||||||,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1511C>G|||||6234|,C|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*368C>G|||||919|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>G|||||650|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545C>G|||||1418|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>G|||||3109|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>G|||||3679|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>G|||||3760|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>G|||||3993|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>G|||||4872|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/19|c.1062-25C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|18/27|n.3488C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|14/23|n.*1511C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron|1/3|n.154C>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|6/6|n.*368C>G||||||
22	51012057	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/20|c.1058G>A|p.Arg353His|1109/2592|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/19|c.1058G>A|p.Arg353His|1163/2647|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/19|c.1058G>A|p.Arg353His|1196/2933|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/20|c.1058G>A|p.Arg353His|1196/2436|1058/2076|353/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/19|c.956G>A|p.Arg319His|1094/2577|956/2217|319/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/22|c.449G>A|p.Arg150His|1409/2753|449/1704|150/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/19|c.1058G>A|p.Arg353His|1147/2662|1058/2319|353/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.1058G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.1058G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1289G>A|||||5553|,T|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*146G>A|||||238|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||1331|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||528|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||737|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||2428|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2998|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||3079|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||3312|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||4191|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/27|n.3266G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1289G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*146G>A||||||
22	51012117	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|10/20|c.998G>A|p.Arg333Gln|1049/2592|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|9/19|c.998G>A|p.Arg333Gln|1103/2647|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|10/19|c.998G>A|p.Arg333Gln|1136/2933|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|10/20|c.998G>A|p.Arg333Gln|1136/2436|998/2076|333/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|9/19|c.896G>A|p.Arg299Gln|1034/2577|896/2217|299/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|12/22|c.389G>A|p.Arg130Gln|1349/2753|389/1704|130/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|10/19|c.998G>A|p.Arg333Gln|1087/2662|998/2319|333/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.998G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.998G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1229G>A|||||5493|,T|3_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*86G>A|||||178|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||1391|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||588|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||677|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||2368|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2938|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||3019|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||3252|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||4131|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|17/27|n.3206G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|13/23|n.*1229G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|5/6|n.*86G>A||||||
22	51012775	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|9/20|c.959G>A|p.Gly320Asp|1010/2592|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|8/19|c.959G>A|p.Gly320Asp|1064/2647|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|9/19|c.959G>A|p.Gly320Asp|1097/2933|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|9/20|c.959G>A|p.Gly320Asp|1097/2436|959/2076|320/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|8/19|c.857G>A|p.Gly286Asp|995/2577|857/2217|286/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|11/22|c.350G>A|p.Gly117Asp|1310/2753|350/1704|117/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|9/19|c.959G>A|p.Gly320Asp|1048/2662|959/2319|320/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.959G>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.959G>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/23|n.*1190G>A|||||4835|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1G>A|||||2049|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1G>A|||||1246|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406G>A|||||4603|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.*545G>A|||||19|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563G>A|||||1710|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757G>A|||||2280|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562G>A|||||2361|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558G>A|||||2594|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546G>A|||||3473|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069G>A|||||4613|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856G>A|||||4617|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114G>A|||||4620|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|16/27|n.3167G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|12/23|n.*1190G>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|3/6|n.212G>A||||||
22	51012979	.	G	T	.	.	ANN=T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|8/20|c.828C>A|p.Asn276Lys|879/2592|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|7/19|c.828C>A|p.Asn276Lys|933/2647|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|8/19|c.828C>A|p.Asn276Lys|966/2933|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|8/20|c.828C>A|p.Asn276Lys|966/2436|828/2076|276/691||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|7/19|c.726C>A|p.Asn242Lys|864/2577|726/2217|242/738||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|10/22|c.219C>A|p.Asn73Lys|1179/2753|219/1704|73/567||,T|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|8/19|c.828C>A|p.Asn276Lys|917/2662|828/2319|276/772||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.828C>A||||||,T|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.828C>A||||||,T|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/23|n.*1059C>A|||||4631|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1C>A|||||2253|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1C>A|||||1450|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406C>A|||||4399|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.*563C>A|||||1506|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757C>A|||||2076|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562C>A|||||2157|,T|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558C>A|||||2390|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546C>A|||||3269|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069C>A|||||4409|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856C>A|||||4413|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114C>A|||||4416|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052C>A|||||4900|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|15/27|n.3036C>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|11/23|n.*1059C>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay|2/6|n.81C>A||||||,T|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron|1/2|n.433C>A||||||
22	51014691	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|6/20|c.635A>G|p.Gln212Arg|686/2592|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|5/19|c.635A>G|p.Gln212Arg|740/2647|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|6/19|c.635A>G|p.Gln212Arg|773/2933|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|6/20|c.635A>G|p.Gln212Arg|773/2436|635/2076|212/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|5/19|c.533A>G|p.Gln178Arg|671/2577|533/2217|178/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|8/22|c.26A>G|p.Gln9Arg|986/2753|26/1704|9/567||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|6/19|c.635A>G|p.Gln212Arg|724/2662|635/2319|212/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.635A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.635A>G||||||,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|9/23|n.*866A>G|||||2919|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1A>G|||||3965|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||3162|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||198|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||1280|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>G|||||2687|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757A>G|||||364|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562A>G|||||445|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558A>G|||||678|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||1557|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>G|||||2697|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>G|||||2701|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>G|||||2704|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>G|||||3188|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||3542|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||4095|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||4095|,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|13/27|n.2843A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|9/23|n.*866A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|2/3|n.442A>G||||||
22	51015003	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|5/20|c.523A>G|p.Lys175Glu|574/2592|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|4/19|c.523A>G|p.Lys175Glu|628/2647|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|5/19|c.523A>G|p.Lys175Glu|661/2933|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|5/20|c.523A>G|p.Lys175Glu|661/2436|523/2076|175/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|5/19|c.523A>G|p.Lys175Glu|612/2662|523/2319|175/772||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|13/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|18/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|12/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|14/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|11/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|8/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|6/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|10/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|19/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|4/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|7/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|15/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|5/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|16/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|9/20|c.523A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Cytoplasmic|ENST00000312108|protein_coding|17/20|c.523A>G||||||,C|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|7/22|c.-87A>G|||||287|,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*754A>G|||||2607|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000497224|retained_intron||n.-1A>G|||||4277|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||3474|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||510|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||1592|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>G|||||2375|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.*757A>G|||||52|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.*562A>G|||||133|,C|downstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.*558A>G|||||366|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||1245|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>G|||||2385|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>G|||||2389|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>G|||||2392|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>G|||||2876|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||3230|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||3783|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||3783|,C|intron_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|4/18|c.460-239A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|12/27|n.2731A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|8/23|n.*754A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron|1/3|n.330A>G||||||
22	51015801	.	T	G	.	.	ANN=G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/20|c.233A>C|p.Asp78Ala|284/2592|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/19|c.233A>C|p.Asp78Ala|338/2647|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/19|c.233A>C|p.Asp78Ala|371/2933|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/20|c.233A>C|p.Asp78Ala|371/2436|233/2076|78/691||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/19|c.233A>C|p.Asp78Ala|371/2577|233/2217|78/738||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/19|c.233A>C|p.Asp78Ala|322/2662|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/4|c.233A>C|p.Asp78Ala|415/558|233/376|78/124||WARNING_TRANSCRIPT_INCOMPLETE,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|3/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000312108|protein_coding|4/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|3/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000440709|protein_coding|4/20|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|3/19|c.233A>C||||||,G|sequence_feature|LOW|CPT1B|ENSG00000205560|topological_domain:Mitochondrial_intermembrane|ENST00000457250|protein_coding|4/19|c.233A>C||||||,G|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/22|c.-333A>C|||||1085|,G|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*508A>C|||||1809|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>C|||||4272|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>C|||||1308|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>C|||||2390|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>C|||||469|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>C|||||1577|,G|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>C|||||447|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>C|||||1587|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>C|||||1591|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>C|||||1594|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>C|||||2078|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>C|||||2432|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>C|||||2985|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>C|||||2985|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>C|||||4235|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/27|n.2441A>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*508A>C||||||,G|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/4|n.332A>C||||||,G|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/3|n.186A>C||||||
22	51015838	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding|3/20|c.196A>G|p.Ile66Val|247/2592|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding|2/19|c.196A>G|p.Ile66Val|301/2647|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding|3/19|c.196A>G|p.Ile66Val|334/2933|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding|3/20|c.196A>G|p.Ile66Val|334/2436|196/2076|66/691||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding|3/19|c.196A>G|p.Ile66Val|334/2577|196/2217|66/738||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding|3/19|c.196A>G|p.Ile66Val|285/2662|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding|3/4|c.196A>G|p.Ile66Val|378/558|196/376|66/124||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000312108|protein_coding|3/20|c.196A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000440709|protein_coding|3/20|c.196A>G||||||,C|sequence_feature|LOW|CPT1B|ENSG00000205560|transmembrane_region:Transmembrane_region|ENST00000457250|protein_coding|3/19|c.196A>G||||||,C|5_prime_UTR_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding|5/22|c.-370A>G|||||1122|,C|3_prime_UTR_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*471A>G|||||1772|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000475238|retained_intron||n.-1A>G|||||4309|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||1345|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||2427|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>G|||||506|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding||c.*1406A>G|||||1540|,C|downstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.*546A>G|||||410|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron||n.*2069A>G|||||1550|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.*624A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.*657A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron||n.*1401A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron||n.*1856A>G|||||1554|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron||n.*2114A>G|||||1557|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron||n.*1052A>G|||||2041|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||2395|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||2948|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||2948|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>G|||||4198|,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|10/27|n.2404A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay|6/23|n.*471A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron|3/4|n.295A>G||||||,C|non_coding_exon_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron|2/3|n.149A>G||||||
22	51018204	.	T	C	.	.	ANN=C|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|9/11|c.983A>G|p.Gln328Arg|1201/1638|983/1188|328/395||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|10/11|c.983A>G||||||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|9/11|c.983A>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52A>G|||||1358|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1T>C|||||3251|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106A>G|||||1755|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139A>G|||||1108|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139A>G|||||1108|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139A>G|||||1108|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961A>G|||||305|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1A>G|||||23|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90A>G|||||1320|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1A>G|||||3711|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000479886|retained_intron||n.-1A>G|||||4793|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1A>G|||||2872|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1A>G|||||1310|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1A>G|||||1907|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183A>G|||||1529|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.*722A>G|||||29|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010A>G|||||582|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886A>G|||||582|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428A>G|||||1832|,C|intron_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript|2/5|n.66+16A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|6/27|n.1839A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|7/9|n.1642A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|3/5|n.201A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|5/7|n.234A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|6/8|n.978A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|8/10|n.1433A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|6/8|n.1694A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|7/8|n.946A>G||||||
22	51018623	.	A	G	.	.	ANN=G|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|7/11|c.814T>C|p.Tyr272His|1032/1638|814/1188|272/395||,G|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|7/11|c.814T>C||||||,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>C|||||1777|,G|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>G|||||2832|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>C|||||2174|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>C|||||1527|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>C|||||1527|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>C|||||1527|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>C|||||724|,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>C|||||442|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>C|||||1739|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1T>C|||||4130|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>C|||||3291|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>C|||||1729|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>C|||||2326|,G|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>C|||||1948|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>C|||||195|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron||n.*1010T>C|||||163|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript||n.*886T>C|||||163|,G|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>C|||||1413|,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|4/27|n.1670T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|5/9|n.1473T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript|1/5|n.60T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|3/7|n.176T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|4/8|n.809T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|6/10|n.1264T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|4/8|n.1525T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|5/8|n.777T>C||||||,G|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|2/3|n.439T>C||||||
22	51018814	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|6/11|c.709G>A|p.Val237Ile|927/1638|709/1188|237/395||,T|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|6/11|c.709G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>A|||||1968|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>T|||||2641|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>A|||||2365|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>A|||||1718|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>A|||||1718|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>A|||||1718|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>A|||||915|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>A|||||633|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>A|||||1930|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000423069|nonsense_mediated_decay||n.-1G>A|||||4321|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||3482|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>A|||||1920|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>A|||||2517|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>A|||||2139|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>A|||||386|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>A|||||132|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||1222|,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|4/27|n.1479G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|4/9|n.1368G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript|2/7|n.71G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|3/8|n.704G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|5/10|n.1159G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|4/8|n.1334G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|5/8|n.586G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron|2/3|n.248G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|5/5|n.982G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|7/7|n.858G>A||||||
22	51019929	.	A	C	.	.	ANN=C|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.501T>G|p.Ile167Met|719/1638|501/1188|167/395||,C|sequence_feature|LOW|CHKB|ENSG00000100288|helix|ENST00000406938|protein_coding|4/11|c.501T>G||||||,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52T>G|||||3083|,C|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1A>C|||||1526|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106T>G|||||3480|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139T>G|||||2833|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139T>G|||||2833|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139T>G|||||2833|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961T>G|||||2030|,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1T>G|||||1748|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90T>G|||||3045|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1T>G|||||4597|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1T>G|||||3035|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1T>G|||||3632|,C|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183T>G|||||3254|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1T>G|||||1501|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1T>G|||||1247|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1T>G|||||897|,C|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1T>G|||||720|,C|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428T>G|||||107|,C|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+749T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1271T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1160T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.951T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1126T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.378T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.774T>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.650T>G||||||
22	51019978	.	C	T	.	.	ANN=T|missense_variant|MODERATE|CHKB|ENSG00000100288|transcript|ENST00000406938|protein_coding|4/11|c.452G>A|p.Arg151Gln|670/1638|452/1188|151/395||,T|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|3/11|c.452G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|beta_strand|ENST00000406938|protein_coding|4/11|c.452G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|nucleotide_phosphate-binding_region:ATP|ENST00000406938|protein_coding|3/11|c.452G>A||||||,T|sequence_feature|LOW|CHKB|ENSG00000100288|nucleotide_phosphate-binding_region:ATP|ENST00000406938|protein_coding|4/11|c.452G>A||||||,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000312108|protein_coding||c.-52G>A|||||3132|,T|upstream_gene_variant|MODIFIER|CHKB-AS1|ENSG00000205559|transcript|ENST00000380711|antisense||n.-1C>T|||||1477|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000405237|protein_coding||c.-106G>A|||||3529|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000360719|protein_coding||c.-139G>A|||||2882|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000440709|protein_coding||c.-139G>A|||||2882|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000457250|protein_coding||c.-139G>A|||||2882|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000434492|protein_coding||c.-961G>A|||||2079|,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000453634|nonsense_mediated_decay||n.-1G>A|||||1797|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000395650|protein_coding||c.-90G>A|||||3094|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000476790|retained_intron||n.-1G>A|||||4646|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000460853|retained_intron||n.-1G>A|||||3084|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000461117|retained_intron||n.-1G>A|||||3681|,T|upstream_gene_variant|MODIFIER|CPT1B|ENSG00000205560|transcript|ENST00000417176|protein_coding||c.-183G>A|||||3303|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000452668|processed_transcript||n.-1G>A|||||1550|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000464225|processed_transcript||n.-1G>A|||||1296|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000471515|processed_transcript||n.-1G>A|||||946|,T|upstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000489453|retained_intron||n.-1G>A|||||769|,T|downstream_gene_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000465842|retained_intron||n.*428G>A|||||58|,T|intron_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000484266|retained_intron|1/7|n.576+700G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|ENSG00000254413|transcript|ENST00000492556|retained_intron|2/27|n.1222G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000492582|retained_intron|2/9|n.1111G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000481673|retained_intron|3/10|n.902G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000479003|retained_intron|2/8|n.1077G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000468532|retained_intron|3/8|n.329G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000476289|retained_intron|3/5|n.725G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB|ENSG00000100288|transcript|ENST00000463053|processed_transcript|5/7|n.601G>A||||||
22	51063610	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1493G>A|p.Arg498His|1886/2050|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1493G>A|p.Arg498His|1731/1895|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1487G>A|p.Arg496His|1893/2053|1487/1524|496/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1487G>A|p.Arg496His|1788/1948|1487/1524|496/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1493G>A|p.Arg498His|1764/1918|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1235G>A|p.Arg412His|1497/1650|1235/1272|412/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1493G>A|p.Arg498His|1675/1824|1493/1530|498/509||,T|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.1235G>A||||||,T|sequence_feature|LOW|ARSA|ENSG00000100299|turn|ENST00000453344|protein_coding|8/8|c.1235G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||1856|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1409|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+181G>A||||||
22	51063616	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1487C>T|p.Thr496Ile|1880/2050|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1487C>T|p.Thr496Ile|1725/1895|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1481C>T|p.Thr494Ile|1887/2053|1481/1524|494/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1481C>T|p.Thr494Ile|1782/1948|1481/1524|494/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1487C>T|p.Thr496Ile|1758/1918|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1229C>T|p.Thr410Ile|1491/1650|1229/1272|410/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1487C>T|p.Thr496Ile|1669/1824|1487/1530|496/509||,A|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.1229C>T||||||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||1862|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>T|||||1403|,A|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+175C>T||||||
22	51063656	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1447G>A|p.Glu483Lys|1840/2050|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1447G>A|p.Glu483Lys|1685/1895|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1441G>A|p.Glu481Lys|1847/2053|1441/1524|481/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1441G>A|p.Glu481Lys|1742/1948|1441/1524|481/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1447G>A|p.Glu483Lys|1718/1918|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1189G>A|p.Glu397Lys|1451/1650|1189/1272|397/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1447G>A|p.Glu483Lys|1629/1824|1447/1530|483/509||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||1902|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1363|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+135G>A||||||
22	51063758	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1345G>A|p.Gly449Arg|1738/2050|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1345G>A|p.Gly449Arg|1583/1895|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1339G>A|p.Gly447Arg|1745/2053|1339/1524|447/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1339G>A|p.Gly447Arg|1640/1948|1339/1524|447/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1345G>A|p.Gly449Arg|1616/1918|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1087G>A|p.Gly363Arg|1349/1650|1087/1272|363/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1345G>A|p.Gly449Arg|1527/1824|1345/1530|449/509||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||2004|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||1261|,T|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+33G>A||||||
22	51063778	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1325A>G|p.Asn442Ser|1718/2050|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1325A>G|p.Asn442Ser|1563/1895|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1319A>G|p.Asn440Ser|1725/2053|1319/1524|440/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1319A>G|p.Asn440Ser|1620/1948|1319/1524|440/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1325A>G|p.Asn442Ser|1596/1918|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1067A>G|p.Asn356Ser|1329/1650|1067/1272|356/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1325A>G|p.Asn442Ser|1507/1824|1325/1530|442/509||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1A>G|||||2024|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431A>G|||||1241|,C|intron_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/3|n.178+13A>G||||||
22	51063806	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|8/8|c.1297C>G|p.Leu433Val|1690/2050|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|9/9|c.1297C>G|p.Leu433Val|1535/1895|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|8/8|c.1291C>G|p.Leu431Val|1697/2053|1291/1524|431/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|9/9|c.1291C>G|p.Leu431Val|1592/1948|1291/1524|431/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|9/9|c.1297C>G|p.Leu433Val|1568/1918|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|8/8|c.1039C>G|p.Leu347Val|1301/1650|1039/1272|347/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|9/9|c.1297C>G|p.Leu433Val|1479/1824|1297/1530|433/509||,C|sequence_feature|LOW|ARSA|ENSG00000100299|turn|ENST00000453344|protein_coding|8/8|c.1039C>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||2052|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>G|||||1213|,C|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|2/4|n.163C>G||||||
22	51064039	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|7/8|c.1178C>G|p.Thr393Ser|1571/2050|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|8/9|c.1178C>G|p.Thr393Ser|1416/1895|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|7/8|c.1172C>G|p.Thr391Ser|1578/2053|1172/1524|391/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|8/9|c.1172C>G|p.Thr391Ser|1473/1948|1172/1524|391/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|8/9|c.1178C>G|p.Thr393Ser|1449/1918|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|7/8|c.920C>G|p.Thr307Ser|1182/1650|920/1272|307/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|8/9|c.1178C>G|p.Thr393Ser|1360/1824|1178/1530|393/509||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.920C>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|beta_strand|ENST00000453344|protein_coding|7/8|c.920C>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||2285|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431C>G|||||980|,C|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay|1/4|n.44C>G||||||
22	51064416	.	T	C	.	.	ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|6/8|c.1055A>G|p.Asn352Ser|1448/2050|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|7/9|c.1055A>G|p.Asn352Ser|1293/1895|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|6/8|c.1049A>G|p.Asn350Ser|1455/2053|1049/1524|350/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|7/9|c.1049A>G|p.Asn350Ser|1350/1948|1049/1524|350/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|7/9|c.1055A>G|p.Asn352Ser|1326/1918|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|6/8|c.797A>G|p.Asn266Ser|1059/1650|797/1272|266/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|7/9|c.1055A>G|p.Asn352Ser|1237/1824|1055/1530|352/509||,C|sequence_feature|MODERATE|ARSA|ENSG00000100299|glycosylation_site:N-linked__GlcNAc..._|ENST00000453344|protein_coding|6/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|7/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|8/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|5/8|c.797A>G||||||,C|sequence_feature|LOW|ARSA|ENSG00000100299|disulfide_bond|ENST00000453344|protein_coding|6/8|c.797A>G||||||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1A>G|||||2662|,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3A>G|||||332|,C|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431A>G|||||603|
22	51064659	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/8|c.902G>A|p.Arg301Gln|1295/2050|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/9|c.902G>A|p.Arg301Gln|1140/1895|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/8|c.896G>A|p.Arg299Gln|1302/2053|896/1524|299/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/9|c.896G>A|p.Arg299Gln|1197/1948|896/1524|299/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/9|c.902G>A|p.Arg301Gln|1173/1918|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/8|c.644G>A|p.Arg215Gln|906/1650|644/1272|215/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/9|c.902G>A|p.Arg301Gln|1084/1824|902/1530|301/509||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||2905|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||575|,T|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>A|||||360|
22	51064668	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|5/8|c.893G>T|p.Gly298Val|1286/2050|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|6/9|c.893G>T|p.Gly298Val|1131/1895|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|5/8|c.887G>T|p.Gly296Val|1293/2053|887/1524|296/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|6/9|c.887G>T|p.Gly296Val|1188/1948|887/1524|296/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|6/9|c.893G>T|p.Gly298Val|1164/1918|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|5/8|c.635G>T|p.Gly212Val|897/1650|635/1272|212/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|6/9|c.893G>T|p.Gly298Val|1075/1824|893/1530|298/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>T|||||2914|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>T|||||584|,A|downstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron||n.*1431G>T|||||351|
22	51065266	.	G	C	.	.	ANN=C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.680C>G|p.Ser227Cys|1073/2050|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.680C>G|p.Ser227Cys|918/1895|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.674C>G|p.Ser225Cys|1080/2053|674/1524|225/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.674C>G|p.Ser225Cys|975/1948|674/1524|225/507||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.680C>G|p.Ser227Cys|951/1918|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.422C>G|p.Ser141Cys|684/1650|422/1272|141/423||,C|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.680C>G|p.Ser227Cys|862/1824|680/1530|227/509||,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>G|||||3512|,C|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>G|||||1182|,C|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1184C>G||||||
22	51065287	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.659C>T|p.Pro220Leu|1052/2050|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.659C>T|p.Pro220Leu|897/1895|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.653C>T|p.Pro218Leu|1059/2053|653/1524|218/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.653C>T|p.Pro218Leu|954/1948|653/1524|218/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.659C>T|p.Pro220Leu|930/1918|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.401C>T|p.Pro134Leu|663/1650|401/1272|134/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.659C>T|p.Pro220Leu|841/1824|659/1530|220/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3533|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1203|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1163C>T||||||
22	51065341	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.605G>A|p.Arg202His|998/2050|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.605G>A|p.Arg202His|843/1895|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.599G>A|p.Arg200His|1005/2053|599/1524|200/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.599G>A|p.Arg200His|900/1948|599/1524|200/507||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.605G>A|p.Arg202His|876/1918|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.347G>A|p.Arg116His|609/1650|347/1272|116/423||,T|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.605G>A|p.Arg202His|787/1824|605/1530|202/509||,T|sequence_feature|LOW|ARSA|ENSG00000100299|helix|ENST00000453344|protein_coding|3/8|c.347G>A||||||,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>A|||||3587|,T|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>A|||||1257|,T|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1109G>A||||||
22	51065361	.	C	A	.	.	ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|3/8|c.585G>T|p.Trp195Cys|978/2050|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|4/9|c.585G>T|p.Trp195Cys|823/1895|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|3/8|c.579G>T|p.Trp193Cys|985/2053|579/1524|193/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|4/9|c.579G>T|p.Trp193Cys|880/1948|579/1524|193/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|4/9|c.585G>T|p.Trp195Cys|856/1918|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|3/8|c.327G>T|p.Trp109Cys|589/1650|327/1272|109/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|4/9|c.585G>T|p.Trp195Cys|767/1824|585/1530|195/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1G>T|||||3607|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3G>T|||||1277|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.1089G>T||||||
22	51065610	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000216124|protein_coding|2/8|c.449C>T|p.Pro150Leu|842/2050|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000356098|protein_coding|3/9|c.449C>T|p.Pro150Leu|687/1895|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547307|protein_coding|2/8|c.443C>T|p.Pro148Leu|849/2053|443/1524|148/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000547805|protein_coding|3/9|c.443C>T|p.Pro148Leu|744/1948|443/1524|148/507||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395621|protein_coding|3/9|c.449C>T|p.Pro150Leu|720/1918|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000453344|protein_coding|2/8|c.191C>T|p.Pro64Leu|453/1650|191/1272|64/423||,A|missense_variant|MODERATE|ARSA|ENSG00000100299|transcript|ENST00000395619|protein_coding|3/9|c.449C>T|p.Pro150Leu|631/1824|449/1530|150/509||,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000610191|processed_transcript||n.-1C>T|||||3856|,A|upstream_gene_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000608497|nonsense_mediated_decay||n.-3C>T|||||1526|,A|non_coding_exon_variant|MODIFIER|ARSA|ENSG00000100299|transcript|ENST00000551731|retained_intron|2/2|n.840C>T||||||
22	51117564	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/23|c.718C>T|p.His240Tyr|718/7145|718/5244|240/1747||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/23|c.718C>T|p.His240Tyr|945/7394|718/5181|240/1726||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/23|c.718C>T|p.His240Tyr|718/7130|718/5229|240/1742||
22	51117580	.	T	C	.	.	ANN=C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|6/23|c.734T>C|p.Ile245Thr|734/7145|734/5244|245/1747||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|6/23|c.734T>C|p.Ile245Thr|961/7394|734/5181|245/1726||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|6/23|c.734T>C|p.Ile245Thr|734/7130|734/5229|245/1742||
22	51133329	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|10/23|c.1157C>T|p.Ala386Val|1157/7145|1157/5244|386/1747||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|10/23|c.1157C>T|p.Ala386Val|1384/7394|1157/5181|386/1726||,T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|10/23|c.1157C>T|p.Ala386Val|1157/7130|1157/5229|386/1742||,T|upstream_gene_variant|MODIFIER|RNU6-409P|ENSG00000206841|transcript|ENST00000384114|snRNA||n.-1G>A|||||3538|
22	51143226	.	A	G	.	.	ANN=G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|16/23|c.1880A>G|p.Glu627Gly|1880/7145|1880/5244|627/1747||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|15/23|c.1790A>G|p.Glu597Gly|2017/7394|1790/5181|597/1726||,G|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|15/23|c.1835A>G|p.Glu612Gly|1835/7130|1835/5229|612/1742||
22	51143401	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/23|c.1954G>A|p.Val652Met|1954/7145|1954/5244|652/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/23|c.1864G>A|p.Val622Met|2091/7394|1864/5181|622/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/23|c.1909G>A|p.Val637Met|1909/7130|1909/5229|637/1742||
22	51143462	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|17/23|c.2015G>A|p.Arg672His|2015/7145|2015/5244|672/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|16/23|c.1925G>A|p.Arg642His|2152/7394|1925/5181|642/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|16/23|c.1970G>A|p.Arg657His|1970/7130|1970/5229|657/1742||
22	51144589	.	C	T	.	.	ANN=T|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|17/23|c.2122C>T|p.Arg708Trp|2122/7130|2122/5229|708/1742||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|18/22|c.2158+9C>T||||||,T|intron_variant|MODIFIER|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|17/22|c.2068+9C>T||||||
22	51153371	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|20/23|c.2209G>A|p.Ala737Thr|2209/7145|2209/5244|737/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|19/23|c.2119G>A|p.Ala707Thr|2346/7394|2119/5181|707/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|19/23|c.2167G>A|p.Ala723Thr|2167/7130|2167/5229|723/1742||
22	51159652	.	G	C	.	.	ANN=C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3439G>C|p.Val1147Leu|3439/7145|3439/5244|1147/1747||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3349G>C|p.Val1117Leu|3576/7394|3349/5181|1117/1726||,C|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3397G>C|p.Val1133Leu|3397/7130|3397/5229|1133/1742||
22	51159667	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3454G>A|p.Ala1152Thr|3454/7145|3454/5244|1152/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3364G>A|p.Ala1122Thr|3591/7394|3364/5181|1122/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3412G>A|p.Ala1138Thr|3412/7130|3412/5229|1138/1742||
22	51159778	.	G	A	.	.	ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3565G>A|p.Ala1189Thr|3565/7145|3565/5244|1189/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3475G>A|p.Ala1159Thr|3702/7394|3475/5181|1159/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3523G>A|p.Ala1175Thr|3523/7130|3523/5229|1175/1742||
22	51159802	.	C	A	.	.	ANN=A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000262795|protein_coding|22/23|c.3589C>A|p.Pro1197Thr|3589/7145|3589/5244|1197/1747||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000414786|protein_coding|21/23|c.3499C>A|p.Pro1167Thr|3726/7394|3499/5181|1167/1726||,A|missense_variant|MODERATE|SHANK3|ENSG00000251322|transcript|ENST00000445220|protein_coding|21/23|c.3547C>A|p.Pro1183Thr|3547/7130|3547/5229|1183/1742||
22	51176734	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|1/5|c.71C>T|p.Thr24Met|111/1433|71/1266|24/421||,T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|1/4|c.71C>T|p.Thr24Met|77/708|71/639|24/212||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||167|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||2287|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|1/3|n.111C>T||||||
22	51177751	.	G	A	.	.	ANN=A|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.130G>A|p.Val44Ile|170/1433|130/1266|44/421||,A|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.130G>A|p.Val44Ile|136/708|130/639|44/212||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.130G>A||||||,A|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.130G>A||||||,A|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1C>T|||||1184|,A|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1G>A|||||4821|,A|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284C>T|||||1270|,A|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.170G>A||||||
22	51177812	.	C	T	.	.	ANN=T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000216139|protein_coding|2/5|c.191C>T|p.Thr64Met|231/1433|191/1266|64/421||,T|missense_variant|MODERATE|ACR|ENSG00000100312|transcript|ENST00000529621|protein_coding|2/4|c.191C>T|p.Thr64Met|197/708|191/639|64/212||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|1/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|3/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|disulfide_bond:Interchain__between_light_and_heavy_chains_|ENST00000216139|protein_coding|2/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|3/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|5/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|2/5|c.191C>T||||||,T|sequence_feature|LOW|ACR|ENSG00000100312|domain:Peptidase_S1|ENST00000216139|protein_coding|4/5|c.191C>T||||||,T|upstream_gene_variant|MODIFIER|AC000036.4|ENSG00000225929|transcript|ENST00000449652|antisense||n.-1G>A|||||1245|,T|upstream_gene_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000527761|processed_transcript||n.-1C>T|||||4760|,T|downstream_gene_variant|MODIFIER|AC002056.5|ENSG00000254499|transcript|ENST00000532913|antisense||n.*284G>A|||||1209|,T|non_coding_exon_variant|MODIFIER|ACR|ENSG00000100312|transcript|ENST00000533930|retained_intron|2/3|n.231C>T||||||
